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
CCDC150	284992	broad.mit.edu	37	2	197594013	197594013	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:197594013C>T	ENST00000389175.4	+	23	2788	c.2653C>T	c.(2653-2655)Cta>Tta	p.L885L	CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Silent_p.L532L|CCDC150_ENST00000409270.1_Silent_p.L372L	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	885										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGAAAAAATACTAGAAAGTAA	0.408000													5	56					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129907130	129907130	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:129907130C>T	ENST00000368654.3	-	13	3349	c.2974G>A	c.(2974-2976)Gcc>Acc	p.A992T	MKI67_ENST00000368653.3_Missense_Mutation_p.A632T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	992					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGTGCCTTGGCATGATCTTGG	0.468000													18	1462					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184642661	184642661	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:184642661G>T	ENST00000287546.4	+	29	2637	c.2466G>T	c.(2464-2466)gaG>gaT	p.E822D	VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000446204.2_Missense_Mutation_p.E730D|VPS8_ENST00000437079.3_Missense_Mutation_p.E822D|VPS8_ENST00000436792.2_Missense_Mutation_p.E820D	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	822							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TTATGGTGGAGAATTCAGACT	0.398000													8	71					7.48243e-07	7.97097e-07	1	1	0
HOXA1	3198	broad.mit.edu	37	7	27134354	27134354	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:27134354G>T	ENST00000343060.4	-	2	774	c.713C>A	c.(712-714)aCc>aAc	p.T238N	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	238						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAGCTGCTTGGTAGTGAAGTT	0.567000													4	154					3.59834e-05	3.7813e-05	1	1	0
CORO1C	23603	broad.mit.edu	37	12	109095061	109095061	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:109095061G>A	ENST00000261401.3	-	2	206	c.34C>T	c.(34-36)Cat>Tat	p.H12Y	CORO1C_ENST00000420959.2_Missense_Mutation_p.H65Y|CORO1C_ENST00000549772.1_Missense_Mutation_p.H18Y|CORO1C_ENST00000541050.1_Missense_Mutation_p.H12Y|CORO1C_ENST00000549384.1_Intron	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	12					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CCAAATACATGCCGAAACTTG	0.443000													8	665					0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44593483	44593483	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:44593483C>A	ENST00000245121.5	+	8	796	c.602C>A	c.(601-603)cCt>cAt	p.P201H	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.P273H	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	273						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.P201H(1)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GTTGTGTATCCTATAAGGGTA	0.433000													10	190					2.27111e-07	2.4446e-07	1	1	0
KCNN3	3782	broad.mit.edu	37	1	154841769	154841769	+	Silent	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:154841769C>A	ENST00000271915.3	-	1	987	c.672G>T	c.(670-672)cgG>cgT	p.R224R		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	229						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGTTGTCCTCCCGGGAGGAGA	0.642000													31	172					2.80507e-11	3.11675e-11	1	1	0
EPHX1	2052	broad.mit.edu	37	1	226032237	226032237	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:226032237T>C	ENST00000366837.4	+	8	1275	c.1079T>C	c.(1078-1080)cTc>cCc	p.L360P	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.L360P	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	360					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.L360P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					AACGTCATGCTCTACTGGACA	0.572000													20	83					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20216183	20216183	+	Silent	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:20216183A>T	ENST00000412997.1	-	6	1191	c.840T>A	c.(838-840)acT>acA	p.T280T	SGOL1_ENST00000263753.4_Silent_p.T280T|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000421451.1_Silent_p.T280T|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000412868.1_Silent_p.T280T	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	280					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						gcttacttttAGTTTGTTCAG	0.308000													4	15					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104490136	104490136	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:104490136A>T	ENST00000229330.4	+	12	1770		c.e12-1		HCFC2_ENST00000550335.1_Splice_Site	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2						regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TTTAATTTTTAGTTGATGAAA	0.318000													5	55					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:14316410T>A	ENST00000545643.1	-	3	528		c.e3-2		RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2							endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TATCCAAAACTAAAGAAAAAA	0.398000													7	101					0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44950015	44950015	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:44950015G>T	ENST00000393461.2	+	2	263	c.210G>T	c.(208-210)agG>agT	p.R70S	WNT9B_ENST00000290015.2_Missense_Mutation_p.R70S			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	70					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCTGCCGGAGGGAGCCCGGCC	0.677000													11	94					1.08611e-07	1.17315e-07	1	1	0
ETS1	2113	broad.mit.edu	37	11	128359269	128359269	+	Missense_Mutation	SNP	C	C	T	rs79963544	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:128359269C>T	ENST00000392668.3	-	5	519	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	ETS1_ENST00000319397.5_Missense_Mutation_p.A107T|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000345075.4_Missense_Mutation_p.A107T|ETS1_ENST00000526145.1_Missense_Mutation_p.A107T|ETS1_ENST00000531611.1_Missense_Mutation_p.A107T	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	107					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.A107T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TTACCCAGGGCGCAGAGGGCT	0.493000													8	719					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643924	37643924	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:37643924T>C	ENST00000356958.4	-	5	1135	c.877A>G	c.(877-879)Act>Gct	p.T293A	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.T238A|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T238A|ZNF585A_ENST00000292841.5_Missense_Mutation_p.T238A			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCTCCAGTATGAATTCTT	0.438000													9	918					0	0	1	0	0
ZNF106	64397	broad.mit.edu	37	15	42742008	42742008	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:42742008A>T	ENST00000263805.4	-	2	2719	c.2393T>A	c.(2392-2394)gTa>gAa	p.V798E	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106																		TTTCTTGGTTACTTGCTGAAT	0.458000													8	295					0	0	1	0	0
TRAV2	28691	broad.mit.edu	37	14	22180791	22180791	+	RNA	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:22180791A>T	ENST00000390424.2	+	0	74																											TGTTTTCTGTAGTTGCAGAAA	0.418000													5	166					0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10929039	10929039	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:10929039G>A	ENST00000404371.2	-	11	1402	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P	PDIA6_ENST00000540494.1_Silent_p.P300P|PDIA6_ENST00000404824.2_Silent_p.P351P|PDIA6_ENST00000381611.4_Silent_p.P308P|PDIA6_ENST00000272227.3_Silent_p.P303P			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	303					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CAAGGATATGGGGCAGCACAG	0.453000													9	1038					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76100036	76100036	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:76100036C>G	ENST00000238667.4	+	4	1373	c.1017C>G	c.(1015-1017)taC>taG	p.Y339*	FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000555027.1_Nonsense_Mutation_p.Y54*|FLVCR2_ENST00000539311.1_Nonsense_Mutation_p.Y134*|FLVCR2_ENST00000553587.1_Nonsense_Mutation_p.Y87*|FLVCR2_ENST00000556856.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	339					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCTGGCACTACCCGGTAAGGG	0.483000													22	127					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52620073	52620073	+	Silent	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:52620073A>T	ENST00000399231.3	-	35	4854	c.4611T>A	c.(4609-4611)atT>atA	p.I1537I	MYO5A_ENST00000356338.6_Silent_p.I1510I|MYO5A_ENST00000399233.2_Silent_p.I1534I|MYO5A_ENST00000358212.6_Silent_p.I1562I|MYO5A_ENST00000553916.1_Silent_p.I1535I	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1537	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGATGCTGTTAATTGTTGATG	0.378000													12	1301					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58919627	58919627	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:58919627T>A	ENST00000528737.1	+	5	3304	c.486T>A	c.(484-486)agT>agA	p.S162R	FAM111A_ENST00000533703.1_Missense_Mutation_p.S162R|FAM111A_ENST00000420244.1_Missense_Mutation_p.S162R|FAM111A_ENST00000531147.1_Missense_Mutation_p.S162R|FAM111A_ENST00000361723.3_Missense_Mutation_p.S162R			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	162					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AAAGTAAAAGTAAGCAGAAGG	0.413000													4	178					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718022	142718022	+	Silent	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:142718022A>T	ENST00000381779.4	-	2	1128	c.903T>A	c.(901-903)acT>acA	p.T301T	SLITRK4_ENST00000356928.1_Silent_p.T301T|SLITRK4_ENST00000338017.4_Silent_p.T301T	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	301						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGGTTTAGTTACTAATC	0.453000													6	301					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44116128	44116128	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:44116128A>T	ENST00000242248.5	-	6	916	c.815T>A	c.(814-816)cTa>cAa	p.L272Q	POLM_ENST00000492971.1_5'UTR|POLM_ENST00000335195.6_Missense_Mutation_p.L272Q|POLM_ENST00000395831.3_Intron	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	272					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CTGTTGGGTTAGTTTCTGGGG	0.592000								DNA polymerases (catalytic subunits)					8	564					0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385656	33385656	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:33385656T>A	ENST00000537089.1	-	6	776	c.458A>T	c.(457-459)cAg>cTg	p.Q153L	AQP7_ENST00000541274.1_Silent_p.T113T|AQP7_ENST00000377425.4_Missense_Mutation_p.Q188L|AQP7_ENST00000539936.1_Missense_Mutation_p.Q245L			O14520	AQP7_HUMAN	aquaporin 7	245					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	p.Q245L(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCTGAAGACCTGTTTGCCCCA	0.597000													4	216					0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215440396	215440396	+	Splice_Site	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:215440396G>A	ENST00000312504.5	+	4	1323	c.520_splice	c.e4-1	p.G174_splice	AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_Splice_Site_p.V131_splice|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	174						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGTGTTTCAGGTCCAAACTGC	0.453000													11	1406					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67107007	67107007	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:67107007A>T	ENST00000284425.2	-	17	2381	c.2207T>A	c.(2206-2208)tTa>tAa	p.L736*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	736					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCTGTTTTTAATTTAGCATC	0.299000													4	97					0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107096763	107096763	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:107096763C>A	ENST00000261058.1	+	1	576	c.329C>A	c.(328-330)aCc>aAc	p.T110N		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	110										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GTCCTGGAAACCAGAATGAAT	0.378000													3	81					0.00909568	0.00918456	1	1	0
CPLX3	594855	broad.mit.edu	37	15	75122494	75122494	+	Silent	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:75122494C>A	ENST00000395018.4	+	3	433	c.276C>A	c.(274-276)atC>atA	p.I92I	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	92						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						AGAGCCAGATCCAGATGGCAG	0.612000													10	101					9.31168e-06	9.81844e-06	1	1	0
JPH3	57338	broad.mit.edu	37	16	87677910	87677910	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:87677910C>T	ENST00000284262.2	+	2	671	c.429C>T	c.(427-429)ggC>ggT	p.G143G		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	143	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGGGCTACGGCGTCCGGCAGA	0.682000													6	254					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106760502	106760502	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:106760502T>A	ENST00000228347.4	+	4	449		c.e4+2		POLR3B_ENST00000539066.1_Splice_Site	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B						innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTACTTAAAGTAAGGAACCAA	0.348000													5	178					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3102700	3102700	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:3102700G>A	ENST00000378398.3	+	2	131	c.49G>A	c.(49-51)Gtt>Att	p.V17I	PRDM16_ENST00000442529.2_Missense_Mutation_p.V17I|PRDM16_ENST00000514189.1_Missense_Mutation_p.V17I|PRDM16_ENST00000511072.1_Missense_Mutation_p.V17I|PRDM16_ENST00000270722.5_Missense_Mutation_p.V17I|PRDM16_ENST00000378391.2_Missense_Mutation_p.V17I|PRDM16_ENST00000441472.2_Missense_Mutation_p.V17I			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	17					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.V17I(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGACGGTGACGTTGTAAATAA	0.627000			T	EVI1	"""MDS, AML"""								19	48					0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7606369	7606369	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:7606369T>A	ENST00000342415.5	+	8	971	c.912T>A	c.(910-912)caT>caA	p.H304Q		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	304	Arg-rich.				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAAGCCCACATAAAAGAAAAA	0.428000													4	86					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:53077787T>A	ENST00000276480.7	-	12	1888		c.e12-2			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGCAAGAACTAAGCACAAAA	0.428000													14	969					0	0	1	0	0
CERS5	91012	broad.mit.edu	37	12	50537783	50537783	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:50537783C>T	ENST00000317551.6	-	2	379	c.255G>A	c.(253-255)caG>caA	p.Q85Q	CERS5_ENST00000422340.2_Silent_p.Q27Q	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	85					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGGGTTGGGCCTGATAAGGAC	0.428000													6	285					0	0	1	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925474	218925474	+	RNA	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:218925474G>A	ENST00000439871.1	-	0	906					NR_002712.1																						CATGATCGCAGCGGCACGATG	0.522000													5	278					0	0	1	0	0
CCL4L2	388372	broad.mit.edu	37	17	34641466	34641466	+	Missense_Mutation	SNP	G	G	A	rs148287175	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:34641466G>A	ENST00000394465.2	+	3	525	c.208G>A	c.(208-210)Ggc>Agc	p.G70S	TBC1D3H_ENST00000400684.4_Intron|CCL4L2_ENST00000482104.1_3'UTR|TBC1D3C_ENST00000308078.7_Intron|TBC1D3C_ENST00000451448.2_Intron|TBC1D3H_ENST00000535446.1_Intron|CCL4L2_ENST00000339270.6_Silent_p.E31E			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2	70					chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity			endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACCAAAAGAGGCAAGCAAGT	0.512000													7	226					0	0	1	0	0
MINPP1	9562	broad.mit.edu	37	10	89312005	89312005	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:89312005G>A	ENST00000371996.4	+	5	1275	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T	MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000536010.1_Missense_Mutation_p.A211T|MINPP1_ENST00000371994.4_3'UTR	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	412					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TGTACCTTATGCCTCGAACCT	0.393000													3	64					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3820765	3820765	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:3820765C>T	ENST00000262367.5	-	14	3495	c.2686G>A	c.(2686-2688)Ggg>Agg	p.G896R	CREBBP_ENST00000382070.3_Missense_Mutation_p.G858R	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	896					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGAGTCTGCCCGGAAGACGAC	0.652000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						3	94					0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19675807	19675807	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:19675807G>A	ENST00000251203.8	-	6	1146	c.860C>T	c.(859-861)gCt>gTt	p.A287V		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	287							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GGTATCCACAGCCGTTTTACC	0.527000													5	266					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39934334	39934334	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:39934334C>T	ENST00000564288.1	+	96	22596	c.21819C>T	c.(21817-21819)acC>acT	p.T7273T	MACF1_ENST00000372915.3_Silent_p.T7166T|MACF1_ENST00000567887.1_Silent_p.T7310T|MACF1_ENST00000289893.4_Silent_p.T5716T|MACF1_ENST00000539005.1_Silent_p.T5078T|MACF1_ENST00000317713.7_Silent_p.T5208T|MACF1_ENST00000545844.1_Silent_p.T5208T|MACF1_ENST00000361689.2_Silent_p.T5208T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7166	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.T5208T(1)|p.T5716T(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCGCAGCACCGTGATGGTTC	0.433000													3	159					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290456	62290456	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:62290456C>T	ENST00000378024.4	-	5	11707	c.11433G>A	c.(11431-11433)aaG>aaA	p.K3811K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3811					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATGCTGAACTTGGGCATTT	0.517000													6	381					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82355851	82355851	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:82355851A>G	ENST00000509081.1	-	11	1360	c.1139T>C	c.(1138-1140)aTt>aCt	p.I380T	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.I339T|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.I381T			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	381	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.I381T(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GAGGAAATAAATATCTTTGAT	0.373000													6	41					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48556346	48556346	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:48556346C>T	ENST00000435803.1	+	52	13690	c.13666C>T	c.(13666-13668)Ctg>Ttg	p.L4556L	ABCA13_ENST00000544596.1_Silent_p.L286L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4556					transport	integral to membrane	ATP binding|ATPase activity	p.L4556L(1)|p.L4501L(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGGATGTACCTGATGTCCAG	0.368000													153	395					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136687061	136687061	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:136687061C>A	ENST00000354570.3	-	10	1495	c.1085G>T	c.(1084-1086)cGg>cTg	p.R362L	MAP7_ENST00000432797.2_Missense_Mutation_p.R216L|MAP7_ENST00000454590.1_Missense_Mutation_p.R384L|MAP7_ENST00000544465.1_Missense_Mutation_p.R347L|MAP7_ENST00000438100.2_Missense_Mutation_p.R347L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	362	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GGATGGGGGCCGGACCTGAGC	0.582000													9	146					7.48243e-07	7.97097e-07	1	1	0
FLG	2312	broad.mit.edu	37	1	152284645	152284645	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:152284645G>A	ENST00000368799.1	-	3	2752	c.2717C>T	c.(2716-2718)tCc>tTc	p.S906F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	906	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGCCTGGAGCCGTCTCT	0.562000									Ichthyosis				16	233					0	0	1	0	0
CUL5	8065	broad.mit.edu	37	11	107974931	107974931	+	Silent	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:107974931A>G	ENST00000393094.2	+	19	2779	c.2163A>G	c.(2161-2163)caA>caG	p.Q721Q		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	721					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	p.Q721Q(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTATCATACAAATAATGAAAA	0.249000													12	10					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3424149	3424149	+	RNA	SNP	C	C	T	rs112841660		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:3424149C>T	ENST00000529482.1	+	0	808																											TCATAGAGGACGAAGACTTCT	0.562000													4	4					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35053585	35053585	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:35053585G>A	ENST00000360359.3	+	22	3313	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	1059	PID.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGGCCTTCGAAGTGGCCTA	0.567000													6	51					0	0	1	0	0
RNF24	11237	broad.mit.edu	37	20	3915641	3915641	+	Splice_Site	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:3915641T>C	ENST00000336095.5	-	5	559	c.308_splice	c.e5+1	p.K103_splice	RNF24_ENST00000432261.2_Splice_Site_p.K124_splice|RNF24_ENST00000545616.1_Splice_Site_p.K124_splice|RNF24_ENST00000358395.6_Splice_Site_p.K103_splice	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	103						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						CAATACTTACTTTCTGTGGAA	0.458000													3	204					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117079654	117079654	+	Missense_Mutation	SNP	A	A	T	rs471009		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:117079654A>T	ENST00000320934.3	-	13	2280	c.1650T>A	c.(1648-1650)agT>agA	p.S550R	PCSK7_ENST00000540028.1_Missense_Mutation_p.S191R	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	550	Homo B/P.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ACATCATGCCACTGGGGCAGA	0.607000			T	IGH@	MLCLS								4	69					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585026	158585026	+	Silent	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:158585026C>G	ENST00000368148.3	-	48	6948	c.6768G>C	c.(6766-6768)ctG>ctC	p.L2256L	SPTA1_ENST00000368147.3_Silent_p.L2253L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2256					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGTTGCTCCAGGTTGTGTT	0.532000													9	612					0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10961814	10961814	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:10961814G>T	ENST00000240691.2	-	1	953	c.861C>A	c.(859-861)agC>agA	p.S287R		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	287					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCCTCAACTTGCTATTTCCCA	0.383000													22	75					5.35356e-11	5.92715e-11	1	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156632326	156632326	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:156632326G>C	ENST00000296518.7	+	6	1218	c.1009G>C	c.(1009-1011)Ggg>Cgg	p.G337R	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.G79R|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.G337R|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.G337R|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.G337R|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.G337R|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.G337R			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	337					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.G337R(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GACGTTTAGCGGGATCATGAC	0.383000													14	96					0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33732798	33732798	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:33732798G>A	ENST00000540582.1	-	7	840	c.119C>T	c.(118-120)gCa>gTa	p.A40V	EDEM2_ENST00000374491.2_Missense_Mutation_p.A44V|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000541621.1_5'UTR|EDEM2_ENST00000374492.3_Missense_Mutation_p.A81V			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	81					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGTGTCCAGTGCATCAATTAG	0.428000													5	135					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53675989	53675989	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:53675989T>C	ENST00000371486.3	+	4	1158	c.643T>C	c.(643-645)Tcc>Ccc	p.S215P		NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	215					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CCTGGATATGTCCCAGTATTT	0.488000													5	287					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38138172	38138172	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:38138172G>A	ENST00000308059.6	+	15	2305	c.2284G>A	c.(2284-2286)Gcc>Acc	p.A762T	DLEC1_ENST00000452631.2_Missense_Mutation_p.A762T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A762T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	762					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGAGCCATATGCCCTCATCAT	0.512000													8	461					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46672371	46672371	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:46672371G>T	ENST00000274793.7	-	12	1448	c.1252C>A	c.(1252-1254)Cca>Aca	p.P418T	PLA2G7_ENST00000537365.1_Missense_Mutation_p.P418T	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	418					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTGGTCCCTGGAATAAGATTC	0.303000													6	78					1.6384e-10	1.80749e-10	1	1	0
INTS4P2	644619	broad.mit.edu	37	7	65159979	65159979	+	RNA	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:65159979A>T	ENST00000430126.2	+	0	1150																											GTGTTTGCTTAGTTACCAGGT	0.428000													3	29					0	0	1	0	0
CLDN4	1364	broad.mit.edu	37	7	73246086	73246086	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:73246086T>G	ENST00000435050.1	+	2	3235	c.555T>G	c.(553-555)tgT>tgG	p.C185W	CLDN4_ENST00000340958.2_Missense_Mutation_p.C185W|CLDN4_ENST00000431918.1_Missense_Mutation_p.C185W			O14493	CLD4_HUMAN	claudin 4	185					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	p.C185W(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GCTGCAACTGTCCACCCCGCA	0.652000													30	25					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	347010	347010	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:347010C>G	ENST00000400256.3	-	5	819	c.612G>C	c.(610-612)atG>atC	p.M204I		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	204					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGTTGAGGTTCATGATGACCA	0.502000													56	1438					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36450762	36450762	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:36450762T>A	ENST00000265748.2	+	7	1603	c.1382T>A	c.(1381-1383)cTa>cAa	p.L461Q	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.L461Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	461	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGCAAACAACTAGAAACCAAA	0.363000													4	59					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39757017	39757017	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:39757017T>A	ENST00000395670.3	-	7	1323		c.e7-2		KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGCCAACTAAAAGAAAGA	0.333000													4	72					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24820837	24820837	+	Missense_Mutation	SNP	G	G	T	rs139217308		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:24820837G>T	ENST00000376451.2	+	10	2470	c.2210G>T	c.(2209-2211)cGa>cTa	p.R737L	KIAA1217_ENST00000307544.6_Missense_Mutation_p.R737L|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R1054L|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1018L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R737L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1019L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R974L|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R737L			Q5T5P2	SKT_HUMAN	KIAA1217	1054					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCTCCTCGTCGAAGCTACCTG	0.557000													47	160					1.81118e-26	2.08724e-26	1	1	0
NNT	23530	broad.mit.edu	37	5	43677827	43677827	+	Splice_Site	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:43677827G>A	ENST00000264663.5	+	19	3016	c.2794_splice	c.e19-1	p.G932_splice	NNT_ENST00000512996.2_Splice_Site_p.G801_splice|NNT_ENST00000344920.4_Splice_Site_p.G932_splice	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	932					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	p.G932D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TTCCTTGCAGGCTATGGTCTC	0.398000													28	121					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971877	101971877	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:101971877C>G	ENST00000543253.1	+	5	2999	c.2080C>G	c.(2080-2082)Ctt>Gtt	p.L694V	GPRASP2_ENST00000332262.5_Missense_Mutation_p.L694V|GPRASP2_ENST00000535209.1_Missense_Mutation_p.L694V	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGTGGATTCCCTTGAGCAGCT	0.408000													93	46					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21962615	21962615	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:21962615T>A	ENST00000377072.3	+	11	1736	c.1388T>A	c.(1387-1389)gTa>gAa	p.V463E	MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E|MLLT10_ENST00000307729.7_Missense_Mutation_p.V463E|MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	463	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V463E(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGAAACTGTAAAGGAAAAG	0.398000			T	"""MLL, PICALM, CDK6"""	AL								6	273					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40588990	40588990	+	Silent	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:40588990A>G	ENST00000260402.3	-	14	1692	c.1443T>C	c.(1441-1443)gcT>gcC	p.A481A	PLCB2_ENST00000557821.1_Silent_p.A481A|PLCB2_ENST00000456256.2_Silent_p.A481A	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	481					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGCTGCCCTCAGCCTCCCCAC	0.602000													5	148					0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72094757	72094757	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:72094757G>C	ENST00000355906.5	+	7	1247	c.1189G>C	c.(1189-1191)Gac>Cac	p.D397H	HP_ENST00000398131.2_Missense_Mutation_p.D338H|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Missense_Mutation_p.D338H|HP_ENST00000565574.1_Missense_Mutation_p.D338H|HP_ENST00000562526.1_3'UTR	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	397	Peptidase S1.		D -> H (in dbSNP:rs12646).		cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TTCCATCCAGGACTGGGTTCA	0.527000													10	1016					0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69113057	69113057	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:69113057G>A	ENST00000465139.2	-	1	177	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	ANP32A_ENST00000560303.1_Missense_Mutation_p.R12W|SPESP1_ENST00000560188.1_Intron	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	12					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						GTCCTGTTCCGCAGCTCTAAA	0.557000													3	138					0	0	1	0	0
EAPP	55837	broad.mit.edu	37	14	34994015	34994015	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:34994015T>A	ENST00000250454.3	-	5	552		c.e5-2			NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein						negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CCATGGTAACTAGAACAGAAG	0.403000													5	181					0	0	1	0	0
PARVA	55742	broad.mit.edu	37	11	12499426	12499426	+	Silent	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:12499426T>C	ENST00000334956.8	+	4	793	c.450T>C	c.(448-450)gtT>gtC	p.V150V	PARVA_ENST00000550549.1_Silent_p.V110V|PARVA_ENST00000526746.1_3'UTR|PARVA_ENST00000538608.1_Silent_p.V57V|PARVA_ENST00000539723.1_Silent_p.V110V	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	110	CH 1.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		ATGTGTTGGTTGGAGAAAGAA	0.398000													3	190					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145119110	145119110	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:145119110C>T	ENST00000367545.3	+	63	9229	c.9229C>T	c.(9229-9231)Cca>Tca	p.P3077S	UTRN_ENST00000367526.4_Missense_Mutation_p.P632S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3077	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TAAAGAATGTCCAATTGTCGG	0.483000													6	238					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101540537	101540537	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:101540537G>T	ENST00000353234.4	-	7	1585	c.1538C>A	c.(1537-1539)cCt>cAt	p.P513H	ANKS6_ENST00000375018.1_Missense_Mutation_p.P513H|ANKS6_ENST00000375019.2_Missense_Mutation_p.P212H|ANKS6_ENST00000540940.1_Missense_Mutation_p.P318H			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	513										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGCCGCATCAGGGAGTGCAGA	0.552000													12	125					2.35188e-11	2.6226e-11	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173998409	173998409	+	Silent	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:173998409A>G	ENST00000457714.1	+	7	2217	c.1788A>G	c.(1786-1788)gaA>gaG	p.E596E	NLGN1_ENST00000361589.4_Silent_p.E596E|NLGN1_ENST00000401917.3_Silent_p.E636E|NLGN1_ENST00000545397.1_Silent_p.E596E	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	613					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GAGTTAAAGAACATTACAGAG	0.388000													3	140					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49781232	49781232	+	Missense_Mutation	SNP	G	G	A	rs142361918	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:49781232G>A	ENST00000492622.2	+	26	3603	c.3298G>A	c.(3298-3300)Gac>Aac	p.D1100N	FNDC3A_ENST00000541916.1_Missense_Mutation_p.D1100N|FNDC3A_ENST00000398316.3_Missense_Mutation_p.D1044N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1100	Fibronectin type-III 9.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CAAGGGTCCCGACTCTTCCTT	0.438000													5	161					0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161479818	161479818	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:161479818A>G	ENST00000271450.6	+	4	611	c.573A>G	c.(571-573)atA>atG	p.I191M	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.I190M	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	191	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAAACATAGGCTACACGC	0.512000													6	464					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	312	DUF6 2.					integral to membrane		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567000													5	141					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123297817	123297817	+	Splice_Site	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:123297817G>A	ENST00000253079.6	+	11	2196	c.1851_splice	c.e11-1	p.A618_splice	CCDC62_ENST00000392441.4_Splice_Site_p.A618_splice|CCDC62_ENST00000392440.2_Splice_Site_p.A379_splice|CCDC62_ENST00000537566.1_Splice_Site_p.A379_splice	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	618						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TTTCCTGTAGGCTTCAATTGT	0.453000													10	157					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124740168	124740168	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:124740168C>T	ENST00000397801.1	+	5	1066	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	ROBO3_ENST00000538940.1_Missense_Mutation_p.R270C	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	292	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TCTACGCTGGCGCAAGGAGGA	0.577000													3	95					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78247137	78247137	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:78247137G>A	ENST00000582970.1	+	3	338	c.195G>A	c.(193-195)ccG>ccA	p.P65P	RNF213_ENST00000456466.1_Silent_p.P65P|RNF213_ENST00000319921.4_Silent_p.P65P|RNF213_ENST00000508628.2_Silent_p.P65P	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	65										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)			GCTTGTTCCCGGGCTCAGACA	0.612000													5	212					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160242877	160242877	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:160242877A>T	ENST00000392783.2	-	22	3953	c.3458T>A	c.(3457-3459)aTa>aAa	p.I1153K	AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.I1117K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.I1119K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.I1053K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTATCCTGTTATTAGACCTGG	0.363000													4	93					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229683345	229683345	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:229683345G>A	ENST00000344517.4	-	3	864	c.822C>T	c.(820-822)cgC>cgT	p.R274R		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	274	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CTGATGAGAGGCGGTTAATCA	0.527000													5	340					0	0	1	0	0
WWOX	51741	broad.mit.edu	37	16	78466551	78466551	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:78466551G>A	ENST00000566780.1	+	8	1324	c.958G>A	c.(958-960)Gca>Aca	p.A320T	WWOX_ENST00000406884.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A320T|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	320	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CACGTCGAACGCAGTGCATCC	0.547000													8	625					0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1827293	1827293	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:1827293G>T	ENST00000302787.2	-	7	1494	c.1198C>A	c.(1198-1200)Cag>Aag	p.Q400K		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	400	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCACGCACCTGCTTCAGCTGA	0.652000													113	63					2.74189e-85	3.17159e-85	1	1	0
STRIP2	57464	broad.mit.edu	37	7	129096278	129096278	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:129096278A>T	ENST00000249344.2	+	9	874		c.e9-1		STRIP2_ENST00000435494.2_Splice_Site	NM_020704.2	NP_065755.1			striatin interacting protein 2																		TTTCTTCCTTAGTTTACCCTC	0.517000													6	243					0	0	1	0	0
RANBP10	57610	broad.mit.edu	37	16	67763619	67763619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:67763619G>A	ENST00000317506.3	-	9	1226	c.1111C>T	c.(1111-1113)Cga>Tga	p.R371*	RANBP10_ENST00000536251.1_Nonsense_Mutation_p.R142*|RANBP10_ENST00000448631.2_Nonsense_Mutation_p.R315*|RANBP10_ENST00000411657.2_Nonsense_Mutation_p.R254*|RANBP10_ENST00000602677.1_Nonsense_Mutation_p.R371*	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	371	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGCCATGTCGGGGACTGAGG	0.602000													4	44					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26958913	26958913	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:26958913G>A	ENST00000528896.2	-	22	4095	c.4021C>T	c.(4021-4023)Cag>Tag	p.Q1341*	KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.Q1198*|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.Q1198*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1341						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCCCGTTGCTGGGCAAATGAG	0.463000													6	509					0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78888963	78888963	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:78888963C>A	ENST00000326828.5	-	6	1885	c.1501G>T	c.(1501-1503)Gcc>Tcc	p.A501S	CHRNA3_ENST00000348639.3_Intron	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	501					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTTCCCTGGCCATCAGGGGT	0.498000													28	282					1.61788e-16	1.84391e-16	1	1	0
GCM1	8521	broad.mit.edu	37	6	52998989	52998989	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:52998989C>T	ENST00000259803.7	-	3	420	c.209G>A	c.(208-210)cGc>cAc	p.R70H		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	70						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTTGAGGATGCGGGAGTTGTG	0.587000													5	313					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44415569	44415569	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:44415569C>A	ENST00000372343.3	+	2	1227	c.565C>A	c.(565-567)Ctg>Atg	p.L189M		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	189					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCGCAAAGGCCTGGTGCGGAC	0.642000													6	105					0.0215528	0.0216225	1	1	0
MED16	10025	broad.mit.edu	37	19	868496	868496	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:868496G>A	ENST00000269814.4	-	14	2342	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	MED16_ENST00000312090.6_Silent_p.C820C|MED16_ENST00000395808.3_Silent_p.C801C|MED16_ENST00000589119.1_Silent_p.C801C|MED16_ENST00000325464.1_Silent_p.C801C			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	0					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACACAGCCGCACCTGCGGG	0.657000													3	28					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101196826	101196826	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:101196826A>G	ENST00000294728.2	+	6	1378	c.1277A>G	c.(1276-1278)aAg>aGg	p.K426R	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.K364R|VCAM1_ENST00000347652.2_Missense_Mutation_p.K334R	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	426	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTAAGCTGCAAGGTTCCTAGC	0.458000													3	78					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	127998975	127998975	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:127998975T>C	ENST00000324460.6	-	8	2064	c.1861A>G	c.(1861-1863)Aag>Gag	p.K621E		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	621					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	p.K621E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TCCAGTTCCTTCTTCTTAGCT	0.423000										Prostate(1;0.17)			15	94					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39826539	39826539	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:39826539G>A	ENST00000564288.1	+	48	13096	c.12319G>A	c.(12319-12321)Gcc>Acc	p.A4107T	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Missense_Mutation_p.A4112T|MACF1_ENST00000567887.1_Missense_Mutation_p.A4144T|MACF1_ENST00000289893.4_Missense_Mutation_p.A2547T|MACF1_ENST00000539005.1_Missense_Mutation_p.A2045T|MACF1_ENST00000317713.7_Missense_Mutation_p.A2045T|MACF1_ENST00000545844.1_Missense_Mutation_p.A2045T|MACF1_ENST00000361689.2_Missense_Mutation_p.A2045T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4112					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAAGCAATTGCCCAATCTCA	0.483000													5	182					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50136201	50136201	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:50136201C>T	ENST00000299192.7	+	14	1966	c.1775C>T	c.(1774-1776)aCc>aTc	p.T592I	HEATR3_ENST00000285767.4_Missense_Mutation_p.T506I|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	592							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGTTACCACCAAAGATCCT	0.408000													6	620					0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17963004	17963004	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:17963004G>T	ENST00000381254.2	+	14	2739	c.2525G>T	c.(2524-2526)aGc>aTc	p.S842I	GEN1_ENST00000317402.7_Missense_Mutation_p.S842I|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	842					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGTTGAGTAGCCCTAAGATA	0.363000								Homologous recombination					7	55					0.000274275	0.000284366	1	1	0
LRRC3B	116135	broad.mit.edu	37	3	26751205	26751205	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:26751205G>T	ENST00000396641.2	+	2	634	c.42G>T	c.(40-42)atG>atT	p.M14I	LRRC3B_ENST00000456208.2_Missense_Mutation_p.M14I|LRRC3B_ENST00000417744.1_Missense_Mutation_p.M14I	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	14						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CCCTCTCCATGTGTCTCCTCC	0.458000													14	871					9.16793e-09	1.00426e-08	1	1	0
ZNF417	147687	broad.mit.edu	37	19	58420544	58420544	+	Missense_Mutation	SNP	T	T	C	rs138596716		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:58420544T>C	ENST00000312026.5	-	3	1266	c.1102A>G	c.(1102-1104)Att>Gtt	p.I368V	ZNF417_ENST00000595559.1_Missense_Mutation_p.I367V|ZNF417_ENST00000536263.1_Missense_Mutation_p.I169V|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TGATGGTTAATAAAGCAGAAC	0.448000													437	299					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39084809	39084809	+	Silent	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:39084809C>A	ENST00000209718.3	-	5	1111	c.687G>T	c.(685-687)gtG>gtT	p.V229V	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Silent_p.V92V	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	229	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GACCTGTATCCACCTTCACAT	0.413000													6	294					0.00307968	0.00314046	1	1	0
COLEC12	81035	broad.mit.edu	37	18	347298	347298	+	Silent	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:347298G>T	ENST00000400256.3	-	5	531	c.324C>A	c.(322-324)ctC>ctA	p.L108L		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	108					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGAAGGTGGAGAGTTCTGAGT	0.438000													26	1022					3.5997e-14	4.05784e-14	1	1	0
TOX4	9878	broad.mit.edu	37	14	21955705	21955705	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:21955705C>T	ENST00000405508.1	+	4	447	c.171C>T	c.(169-171)ggC>ggT	p.G57G	TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000262709.3_Silent_p.G57G|TOX4_ENST00000448790.2_Silent_p.G34G			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	57						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		ATGTGGTTGGCCACTTTGATG	0.502000													4	223					0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35496172	35496172	+	Silent	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:35496172A>T	ENST00000357182.4	-	2	296	c.69T>A	c.(67-69)atT>atA	p.I23I	ZMYM6_ENST00000487874.1_Silent_p.I23I|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000317538.5_Silent_p.I23I|ZMYM6_ENST00000373340.2_Silent_p.I23I|ZMYM6_ENST00000373333.1_Silent_p.I23I	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	23					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GTTCTTCTTTAATTTTGTCCA	0.348000													6	131					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42163859	42163859	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:42163859A>T	ENST00000520810.1	+	7	663		c.e7-1		IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000520835.1_Splice_Site|IKBKB_ENST00000416505.2_Splice_Site|IKBKB_ENST00000519735.1_Splice_Site|IKBKB_ENST00000522147.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta						anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTTTTGTTTTAGTTAATACAC	0.438000													9	143					0	0	1	0	0
VMO1	284013	broad.mit.edu	37	17	4689310	4689310	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:4689310G>A	ENST00000328739.5	-	2	312	c.233C>T	c.(232-234)gCa>gTa	p.A78V	VMO1_ENST00000441199.2_Missense_Mutation_p.A78V|VMO1_ENST00000416307.2_Missense_Mutation_p.A78V|VMO1_ENST00000354194.4_Intron	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	78					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						CCCATTCAGTGCAGTGTCGTC	0.617000													35	1804					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193177001	193177001	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:193177001A>G	ENST00000342695.4	-	14	1865	c.1543T>C	c.(1543-1545)Ttt>Ctt	p.F515L	ATP13A4_ENST00000295548.3_Missense_Mutation_p.F515L|ATP13A4_ENST00000392443.3_Missense_Mutation_p.F496L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	515					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.F515L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCTGAGGCAAAGCTGTGAACT	0.517000													68	447					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875219	247875219	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:247875219A>G	ENST00000302084.2	-	1	886	c.839T>C	c.(838-840)gTg>gCg	p.V280A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGGAGTCACCACAGTGTTCAG	0.453000													6	441					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96141148	96141148	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:96141148C>T	ENST00000453304.1	-	8	1636	c.1288G>A	c.(1288-1290)Gca>Aca	p.A430T	UNC5C_ENST00000506749.1_Missense_Mutation_p.A449T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	430					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGTCTTGCTGCCTTGATGTTC	0.428000													8	196					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21667027	21667027	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:21667027T>C	ENST00000425654.2	+	20	3161	c.2681T>C	c.(2680-2682)cTa>cCa	p.L894P	CNKSR2_ENST00000379510.3_Missense_Mutation_p.L924P	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	924					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CTGTCACCACTAGGAGAACAT	0.378000													3	49					0	0	1	0	0
TMOD1	7111	broad.mit.edu	37	9	100286421	100286421	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:100286421A>T	ENST00000395211.2	+	2	88		c.e2-1		TMOD1_ENST00000259365.3_Splice_Site	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN	tropomodulin 1						muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TCTTTCTGGTAGGTATTACTC	0.453000													5	133					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180049692	180049692	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:180049692C>G	ENST00000367607.3	+	30	6438	c.6020C>G	c.(6019-6021)tCt>tGt	p.S2007C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2007						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAGCAGGAGTCTAGCAAAGGA	0.383000											OREG0004796	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	86	204					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158828645	158828645	+	Silent	SNP	G	G	A	rs146877374		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:158828645G>A	ENST00000262178.2	-	8	992	c.807C>T	c.(805-807)acC>acT	p.T269T	VIPR2_ENST00000377633.3_Silent_p.T253T|VIPR2_ENST00000402066.1_Silent_p.T410T	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	269					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GGACTCACCCGGTGTCTTCTA	0.592000													3	115					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48630554	48630554	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:48630554G>A	ENST00000328333.8	-	5	770	c.663C>T	c.(661-663)ggC>ggT	p.G221G	COL7A1_ENST00000454817.1_Silent_p.G221G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	221	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACAGGCACGCCACCAGCAG	0.582000													4	74					0	0	1	0	0
IGFL4	444882	broad.mit.edu	37	19	46543533	46543533	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:46543533C>T	ENST00000377697.1	-	3	265	c.212G>A	c.(211-213)tGc>tAc	p.C71Y	IGFL4_ENST00000601672.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	71						extracellular region		p.C71Y(1)		cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GTGCTGGAAGCAGGGCCAGAA	0.577000													5	65					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150502481	150502481	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:150502481G>A	ENST00000354546.5	-	16	1457	c.1230C>T	c.(1228-1230)ggC>ggT	p.G410G	ANXA6_ENST00000356496.5_Silent_p.G410G|ANXA6_ENST00000521512.1_Silent_p.G203G|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Silent_p.G378G	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	410						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTACCCGGCCAAAGTGAG	0.572000													5	390					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582840	179582840	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:179582840T>C	ENST00000589042.1	-	86	25117	c.24893A>G	c.(24892-24894)tAt>tGt	p.Y8298C	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Y7054C|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Y7981C|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7981	Ig-like 65.						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)			GTGTTCTTTATACCAAGAAAT	0.373000													7	284					0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133013392	133013392	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:133013392C>T	ENST00000367928.4	-	5	1171	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	386					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCACAGTGTGCAGTCCGTCAA	0.363000													7	404					0	0	1	0	0
USF2	7392	broad.mit.edu	37	19	35769606	35769606	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:35769606C>G	ENST00000222305.3	+	8	770	c.733C>G	c.(733-735)Cgg>Ggg	p.R245G	USF2_ENST00000595068.1_Missense_Mutation_p.R245G|USF2_ENST00000594064.1_Missense_Mutation_p.R243G|USF2_ENST00000600341.1_3'UTR|USF2_ENST00000379134.3_Missense_Mutation_p.R114G|USF2_ENST00000343550.5_Missense_Mutation_p.R178G	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	245	Poly-Arg.				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGCAGTGGAGCGGAGGCGGAG	0.597000													5	230					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7080334	7080334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:7080334G>A	ENST00000389658.3	-	2	277	c.184C>T	c.(184-186)Cga>Tga	p.R62*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	62	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.R62R(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGGGTTTCGGACGGGCCGA	0.552000													3	85					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:64389899A>T	ENST00000262043.3	+	3	584		c.e3-1		PHF3_ENST00000393387.1_Splice_Site|PHF3_ENST00000509330.1_Splice_Site			Q92576	PHF3_HUMAN	PHD finger protein 3						multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTTTTCTAGTTGTTGGTC	0.308000													4	46					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926846	130926846	+	Missense_Mutation	SNP	C	C	T	rs141970284		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:130926846C>T	ENST00000261655.4	-	8	1163	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	RIMBP2_ENST00000535703.1_Missense_Mutation_p.V242I|RIMBP2_ENST00000536002.1_Missense_Mutation_p.V242I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	334	Fibronectin type-III 1.					cell junction|synapse		p.V334I(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCACCAGGACGTTGTAGCTG	0.562000													14	508					0	0	1	0	0
RSU1	6251	broad.mit.edu	37	10	16824085	16824085	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:16824085T>A	ENST00000377921.3	-	2	411		c.e2-2		RSU1_ENST00000345264.5_Splice_Site|RSU1_ENST00000602389.1_Splice_Site|RSU1_ENST00000464074.2_Intron			Q15404	RSU1_HUMAN	Ras suppressor protein 1						cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		ATAAGGTAACTAAAAAGAAAA	0.358000													8	118					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7907283	7907283	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:7907283G>A	ENST00000254854.4	+	3	985	c.835G>A	c.(835-837)Gac>Aac	p.D279N		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	279					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CCTGCCCTTCGACACGATCCA	0.682000													3	66					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159830332	159830332	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:159830332T>C	ENST00000297151.4	-	16	2108	c.1721A>G	c.(1720-1722)cAg>cGg	p.Q574R		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	574					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTGGCCTCTGACGTTTCAT	0.448000													9	1211					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170134463	170134463	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:170134463T>A	ENST00000263816.3	-	13	1851		c.e13-2		LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2						hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATAAATAACTACAAAAGAAA	0.363000													4	40					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122820852	122820852	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:122820852T>A	ENST00000264811.5	-	9	2663		c.e9-2		TRPC3_ENST00000513531.1_Splice_Site|TRPC3_ENST00000379645.3_Splice_Site	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3						axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAGGTTTAACTAGGAAAAAAT	0.303000													4	105					0	0	1	0	0
RAD18	56852	broad.mit.edu	37	3	8944117	8944117	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:8944117A>T	ENST00000264926.2	-	10	1231	c.1115T>A	c.(1114-1116)gTa>gAa	p.V372E		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	372					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TGTTATTGTTACTGTTTTTTG	0.308000								Rad6 pathway					4	82					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541886	32541886	+	Silent	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:32541886A>T	ENST00000360538.2	-	3	2753	c.2637T>A	c.(2635-2637)acT>acA	p.T879T	TOPORS_ENST00000379858.1_Silent_p.T814T	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	879	Interaction with TOP1.|Interaction with UBE2I.|Lys-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		tATGGTGTTTAGTTGTATCAG	0.383000													6	317					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857569	9857569	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:9857569G>T	ENST00000396573.2	-	14	4141	c.3832C>A	c.(3832-3834)Caa>Aaa	p.Q1278K	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q1278K|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q1278K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1278					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Q1278K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTTTGTAATTGAAGGGCATTG	0.517000													13	89					6.31663e-08	6.84669e-08	1	1	0
ITPR1	3708	broad.mit.edu	37	3	4725389	4725389	+	Silent	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:4725389C>A	ENST00000354582.6	+	28	3755	c.3405C>A	c.(3403-3405)atC>atA	p.I1135I	ITPR1_ENST00000423119.2_Silent_p.I1126I|ITPR1_ENST00000456211.2_Silent_p.I1111I|ITPR1_ENST00000443694.2_Silent_p.I1120I|ITPR1_ENST00000357086.4_Silent_p.I1126I|ITPR1_ENST00000302640.8_Silent_p.I1120I|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1135					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)		TGAGGTCCATCGTGGAAAAGT	0.468000													7	306					8.12818e-05	8.45549e-05	1	1	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													3	37					0	0	1	0	0
GAS5	60674	broad.mit.edu	37	1	173833568	173833568	+	RNA	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:173833568C>G	ENST00000365524.1	-	0	15					NR_002746.1																						TTGGCAGAATCATTACATCAT	0.348000													4	99					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203816426	203816426	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:203816426C>A	ENST00000545588.1	+	12	4984	c.1157C>A	c.(1156-1158)tCa>tAa	p.S386*	ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S386*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S386*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S386*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S386*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	386							nucleic acid binding|protein binding|zinc ion binding	p.S386*(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGGACCTTCAAAAACTGAT	0.423000													37	36					6.57855e-14	7.38895e-14	1	1	0
MUC17	140453	broad.mit.edu	37	7	100676296	100676296	+	Silent	SNP	A	A	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:100676296A>C	ENST00000306151.4	+	3	1663	c.1599A>C	c.(1597-1599)acA>acC	p.T533T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	533	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTTTCAACAACTCCTGTTG	0.502000													10	488					0	0	1	0	0
WDR46	9277	broad.mit.edu	37	6	33247321	33247321	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:33247321C>T	ENST00000374617.4	-	14	2043	c.1687G>A	c.(1687-1689)Gca>Aca	p.A563T	B3GALT4_ENST00000606990.1_Intron	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	563										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						ACCAGGCTTGCCGTGGAGCTG	0.587000													5	201					0	0	1	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13703	13703	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrM:13703G>A	ENST00000361567.2	+	1	1367	c.1367G>A	c.(1366-1368)cGc>cAc	p.R456H				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	456				R -> G (in Ref. 1; CAA24036).	mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	CCCCATTAAACGCCTGGCAGC	0.473000													2	0					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24483490	24483490	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:24483490C>T	ENST00000398319.2	+	23	3734	c.3349C>T	c.(3349-3351)Ccc>Tcc	p.P1117S	CABIN1_ENST00000405822.2_Missense_Mutation_p.P1067S|CABIN1_ENST00000263119.5_Missense_Mutation_p.P1117S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1117					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGTGATGGGCCCATTTGGAA	0.562000													11	487					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147486670	147486670	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:147486670T>C	ENST00000359874.3	+	17	1623	c.1550T>C	c.(1549-1551)gTc>gCc	p.V517A	SPINK5_ENST00000398454.1_Missense_Mutation_p.V517A|SPINK5_ENST00000256084.7_Missense_Mutation_p.V517A	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	517	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATAATCCTGTCCGTGGCCCA	0.463000													10	859					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6590942	6590942	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:6590942C>T	ENST00000433363.2	-	11	1714	c.1481G>A	c.(1480-1482)tGt>tAt	p.C494Y	SLC13A5_ENST00000293800.6_Missense_Mutation_p.C477Y|SLC13A5_ENST00000381074.4_Missense_Mutation_p.C451Y|SLC13A5_ENST00000573648.1_Intron	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	494						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						ACTCAGGGTACAGGGCAGCAT	0.547000													6	383					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507521	155507521	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:155507521G>T	ENST00000302053.3	-	5	1138	c.1060C>A	c.(1060-1062)Cct>Act	p.P354T	FGA_ENST00000403106.3_Missense_Mutation_p.P354T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	354					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.P354T(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTACTACCAGGTCTAGGGCTC	0.557000													11	52					6.81908e-15	7.71501e-15	1	1	0
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3							cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303000									Hermansky-Pudlak syndrome				6	88					0	0	1	0	0
KIAA0020	9933	broad.mit.edu	37	9	2829881	2829881	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:2829881C>G	ENST00000397885.2	-	8	951	c.745G>C	c.(745-747)Gcg>Ccg	p.A249P	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	249	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GATGCTTCCGCATGCCGCAGC	0.443000													13	1234					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101216407	101216407	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:101216407G>A	ENST00000259455.2	-	7	1551	c.1092C>T	c.(1090-1092)gtC>gtT	p.V364V		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	364					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCTTGGCGATGACCCAGATGC	0.592000													5	329					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091373	74091373	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:74091373C>T	ENST00000443185.2	-	4	3014	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	899					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCTGTGTGGCCGCGCCATGTG	0.697000													4	7					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17750001	17750001	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:17750001C>A	ENST00000428389.2	-	26	3235	c.3236G>T	c.(3235-3237)cGa>cTa	p.R1079L	UNC13A_ENST00000552293.1_Missense_Mutation_p.R991L|UNC13A_ENST00000551649.1_Missense_Mutation_p.R991L|UNC13A_ENST00000550896.1_Missense_Mutation_p.R989L|UNC13A_ENST00000519716.2_Missense_Mutation_p.R991L|UNC13A_ENST00000252773.7_Missense_Mutation_p.R991L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	991					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTGGCTGGCTCGGGGCGGGCT	0.547000													21	54					8.58068e-18	9.81554e-18	1	1	0
SRRT	51593	broad.mit.edu	37	7	100479340	100479340	+	Silent	SNP	T	T	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:100479340T>G	ENST00000388793.4	+	4	532	c.312T>G	c.(310-312)ggT>ggG	p.G104G	SRRT_ENST00000457580.2_Silent_p.G104G|SRRT_ENST00000432932.1_Silent_p.G104G|SRRT_ENST00000347433.4_Silent_p.G104G	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	104					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.G104G(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTGGGGGGGGTGGGGGCCCAA	0.607000													10	138					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104314698	104314698	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:104314698T>C	ENST00000389120.3	+	13	1654	c.1564T>C	c.(1564-1566)Tcc>Ccc	p.S522P		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	522					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCTCCTGCAGTCCCAGTCTAG	0.493000													4	296					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:7172402A>T	ENST00000406697.1	+	9	1145		c.e9-1		C1S_ENST00000328916.3_Splice_Site|C1S_ENST00000402681.3_Splice_Site|C1S_ENST00000360817.5_Splice_Site			P09871	C1S_HUMAN	complement component 1, s subcomponent						complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTCTCTGTTAGTTAATTGCA	0.418000													31	294					0	0	1	0	0
HERPUD1	9709	broad.mit.edu	37	16	56969179	56969179	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:56969179G>A	ENST00000439977.2	+	2	377	c.180G>A	c.(178-180)ggG>ggA	p.G60G	HERPUD1_ENST00000300302.5_Silent_p.G60G|HERPUD1_ENST00000379792.2_Silent_p.G60G|HERPUD1_ENST00000344114.4_Silent_p.G60G|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	60	Ubiquitin-like.					endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TTTATTCTGGGAAGCTGTTGT	0.418000			T	ERG	prostate								9	42					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61188662	61188662	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:61188662G>T	ENST00000316752.6	-	10	1071	c.810C>A	c.(808-810)aaC>aaA	p.N270K	PUS10_ENST00000407787.1_Missense_Mutation_p.N270K	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	270					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CCTTTGGTGAGTTTGGAGGAC	0.348000													18	316					8.00594e-06	8.47045e-06	1	1	0
AIFM1	9131	broad.mit.edu	37	X	129270650	129270650	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:129270650T>C	ENST00000287295.3	-	11	1362	c.1132A>G	c.(1132-1134)Aag>Gag	p.K378E	AIFM1_ENST00000440263.1_Missense_Mutation_p.K26E|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.K374E|AIFM1_ENST00000346424.2_Missense_Mutation_p.K91E|AIFM1_ENST00000460436.2_Missense_Mutation_p.K39E	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	378	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						ATAAGTAACTTGCCACTGCTG	0.483000													7	626					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122667400	122667400	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:122667400T>G	ENST00000195173.4	-	3	584	c.281A>C	c.(280-282)gAg>gCg	p.E94A	SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000357599.3_Missense_Mutation_p.E94A|SEMA5B_ENST00000451055.2_Missense_Mutation_p.E148A			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	94					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGCTGCTGCTCACTGCTGGG	0.612000													5	245					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12885598	12885598	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:12885598A>T	ENST00000380659.3	+	2	41		c.e2-1		TLR7_ENST00000484204.1_3'UTR	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7						cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TCTTTCTCTTAGTTGATGCTA	0.388000													5	235					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374870	23374870	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:23374870T>A	ENST00000359890.3	-	6	597		c.e6-2		RBM23_ENST00000346528.5_Intron|RBM23_ENST00000399922.2_Splice_Site|RBM23_ENST00000542016.2_Splice_Site|RBM23_ENST00000555209.1_Intron	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23						mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TACCTATAACTAAAGAATAGA	0.398000													4	100					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28133022	28133022	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:28133022G>A	ENST00000304658.5	-	14	2328	c.1828C>T	c.(1828-1830)Cca>Tca	p.P610S	XPO6_ENST00000565698.1_Missense_Mutation_p.P596S	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	610					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AATACTGATGGCACAGCAGTT	0.393000													7	458					0	0	1	0	0
FDCSP	260436	broad.mit.edu	37	4	71099902	71099902	+	Nonstop_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:71099902T>A	ENST00000317987.5	+	4	368	c.256T>A	c.(256-258)Taa>Aaa	p.*86K		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	0						extracellular region											TAGCGAAAAGTAAACAAGAAG	0.358000													4	110					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851221	63851221	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:63851221A>C	ENST00000279873.7	+	10	2409	c.1999A>C	c.(1999-2001)Aac>Cac	p.N667H	ARID5B_ENST00000309334.5_Missense_Mutation_p.N424H	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	667					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.N667H(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGGGCCCATGAACGAGAACCA	0.527000													5	122					0	0	1	0	0
ASB8	140461	broad.mit.edu	37	12	48543559	48543559	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:48543559T>C	ENST00000317697.3	-	4	626	c.457A>G	c.(457-459)Aca>Gca	p.T153A	ASB8_ENST00000539528.1_3'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000536549.1_Missense_Mutation_p.T153A|ASB8_ENST00000537754.1_5'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	153					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						CTGAGCGGTGTATCATTGTTG	0.527000													9	564					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335855	57335855	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:57335855A>T	ENST00000326441.9	-	4	532	c.169T>A	c.(169-171)Ttt>Att	p.F57I	PEG3_ENST00000594706.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.F57I|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	57	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F57I(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCCCAACAAATTCCACATAG	0.502000													6	34					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806623	6806623	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:6806623G>A	ENST00000307401.4	+	1	376	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCCTTCATGGCCTATGACAG	0.552000													6	485					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079780	29079780	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:29079780A>T	ENST00000377169.1	+	1	113	c.113A>T	c.(112-114)tAc>tTc	p.Y38F		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTGATCTTCTACTTGATGACA	0.403000													6	305					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101535690	101535690	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:101535690A>T	ENST00000422132.1	+	4	1171	c.974A>T	c.(973-975)tAt>tTt	p.Y325F	NXPE3_ENST00000491511.1_Missense_Mutation_p.Y325F|NXPE3_ENST00000273347.5_Missense_Mutation_p.Y325F|NXPE3_ENST00000477909.1_Missense_Mutation_p.Y325F					neurexophilin and PC-esterase domain family, member 3																		CCTTCTGGGTATTATTATAAA	0.353000													5	131					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153134332	153134332	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:153134332C>A	ENST00000370060.1	-	12	1532	c.1343G>T	c.(1342-1344)tGc>tTc	p.C448F	L1CAM_ENST00000543994.1_Missense_Mutation_p.C450F|L1CAM_ENST00000538883.1_Missense_Mutation_p.C450F|L1CAM_ENST00000370057.3_Missense_Mutation_p.C448F|L1CAM_ENST00000361981.3_Missense_Mutation_p.C443F|L1CAM_ENST00000370055.1_Missense_Mutation_p.C443F|L1CAM_ENST00000361699.4_Missense_Mutation_p.C448F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	448	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGCCTTGCACAGAAGGTA	0.612000													3	71					0.004672	0.00473307	1	1	0
CEP192	55125	broad.mit.edu	37	18	13056591	13056591	+	Silent	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:13056591T>C	ENST00000506447.1	+	19	4082	c.4002T>C	c.(4000-4002)aaT>aaC	p.N1334N	CEP192_ENST00000325971.8_Silent_p.N738N|CEP192_ENST00000430049.2_Silent_p.N859N	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	929										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CATATTCTAATACCTTAAATC	0.458000													6	627					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113379013	113379013	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:113379013T>C	ENST00000316407.4	-	7	1926	c.1516A>G	c.(1516-1518)Atg>Gtg	p.M506V	KIAA2018_ENST00000478658.1_Missense_Mutation_p.M506V|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	506					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.M506V(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGTGGCTGCATAGGTAAAGAT	0.438000													31	47					0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44751243	44751243	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:44751243C>A	ENST00000260327.4	+	2	594	c.31C>A	c.(31-33)Cag>Aag	p.Q11K	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.Q11K|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.Q11K|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.Q11K	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	11							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		AGCTTCTCAGCAGTCAAATCA	0.363000													6	77					0.00116845	0.00120338	1	1	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129590	99129590	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:99129590A>T	ENST00000394170.2	+	7	2489	c.2238A>T	c.(2236-2238)caA>caT	p.Q746H	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q746H|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q746H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	746					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGCCCTATCAATGTGATATAT	0.408000													5	262					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33670590	33670590	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:33670590C>T	ENST00000354992.2	-	16	2665	c.2094G>A	c.(2092-2094)ctG>ctA	p.L698L	LARGE_ENST00000397394.2_Silent_p.L698L|LARGE_ENST00000452586.2_Silent_p.L497L|LARGE_ENST00000337431.2_Silent_p.L646L|LARGE_ENST00000437602.2_Silent_p.L649L|LARGE_ENST00000402320.1_Silent_p.L646L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	698					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGCGTTGGGCAGCACAATGA	0.512000											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	137					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40681788	40681788	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:40681788G>A	ENST00000416151.2	+	5	682	c.567G>A	c.(565-567)ttG>ttA	p.L189L	KNSTRN_ENST00000448395.2_Silent_p.L189L|KNSTRN_ENST00000249776.8_Silent_p.L189L	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		ACAAGCAGTTGCACCAGAAGT	0.488000													6	152					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64800132	64800132	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:64800132C>T	ENST00000413366.3	+	17	2022	c.1996C>T	c.(1996-1998)Ccc>Tcc	p.P666S		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	666	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GTTTGTGCACCCCATCTTACA	0.507000													10	41					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278167	114278167	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:114278167G>T	ENST00000357077.4	+	38	8446	c.8393G>T	c.(8392-8394)gGt>gTt	p.G2798V	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2765V|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2765					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTCCGACTGGTGATGATGTT	0.468000													29	294					2.09667e-21	2.40728e-21	1	1	0
CRB1	23418	broad.mit.edu	37	1	197390735	197390735	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:197390735G>A	ENST00000367400.3	+	6	1912	c.1777G>A	c.(1777-1779)Gcg>Acg	p.A593T	CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.A593T|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.A481T|CRB1_ENST00000535699.1_Missense_Mutation_p.A524T|CRB1_ENST00000544212.1_Missense_Mutation_p.A74T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	593	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.A593T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAAATGCATCGCGAAAGCTCC	0.468000													8	430					0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10468476	10468476	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:10468476G>A	ENST00000355285.4	+	2	423	c.69G>A	c.(67-69)gaG>gaA	p.E23E	APCDD1_ENST00000578882.1_Silent_p.E23E	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	23					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGCTGGGAGAGGGTTCTGCCC	0.502000													4	86					0	0	1	0	0
TMEM145	284339	broad.mit.edu	37	19	42819403	42819403	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:42819403A>T	ENST00000598766.1	+	7	641	c.641A>T	c.(640-642)tAc>tTc	p.Y214F	TMEM145_ENST00000301204.3_Missense_Mutation_p.Y190F			Q8NBT3	TM145_HUMAN	transmembrane protein 145	190						integral to membrane		p.Y190F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ctctcttGTTACTTTGGATGT	0.537000													6	199					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114948383	114948383	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:114948383T>A	ENST00000358465.2	-	15	2502		c.e15-2		TRIM33_ENST00000450349.2_Splice_Site|TRIM33_ENST00000476908.1_Splice_Site|TRIM33_ENST00000369543.2_Splice_Site	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGCTCAACTAAAACAAAAC	0.363000			T	RET	papillary thyroid								7	128					0	0	1	0	0
FGF7	2252	broad.mit.edu	37	15	49716573	49716573	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:49716573A>T	ENST00000267843.4	+	2	690	c.79A>T	c.(79-81)Act>Tct	p.T27S	FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560270.1_Missense_Mutation_p.T27S	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	27					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	TCTAGTGGGTACTATATCTTT	0.428000													4	136					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204802	9204802	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:9204802C>A	ENST00000429566.3	+	1	948	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTTGAGGAACAGAGACCTGA	0.522000													43	336					4.00472e-15	4.54748e-15	1	1	0
GATAD2B	57459	broad.mit.edu	37	1	153785834	153785834	+	Silent	SNP	A	A	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:153785834A>C	ENST00000368655.4	-	8	1554	c.1311T>G	c.(1309-1311)ggT>ggG	p.G437G		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	437	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATAGAATCTTACCATTCTTTT	0.473000													4	301					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184886	118184886	+	Missense_Mutation	SNP	C	C	T	rs139999213	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:118184886C>T	ENST00000427715.2	+	11	1363	c.929C>T	c.(928-930)cCc>cTc	p.P310L	SLC30A8_ENST00000456015.2_Missense_Mutation_p.P359L|SLC30A8_ENST00000521243.1_Missense_Mutation_p.P310L|SLC30A8_ENST00000519688.1_Missense_Mutation_p.P310L	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	359					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GACCAGGACCCCGACTGCCTT	0.488000													9	446					0	0	1	0	0
MLX	6945	broad.mit.edu	37	17	40720575	40720575	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:40720575C>T	ENST00000246912.4	+	3	382	c.329C>T	c.(328-330)aCa>aTa	p.T110I	MLX_ENST00000346833.4_Intron|MLX_ENST00000435881.2_Missense_Mutation_p.T56I	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	110	Helix-loop-helix motif.				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.T110I(1)		kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GTCCCCAACACAGGTAGGCAG	0.542000													5	262					0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45822688	45822688	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:45822688G>T	ENST00000177694.1	+	6	1775	c.1564G>T	c.(1564-1566)Gat>Tat	p.D522Y		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	522					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCTCCTTTTGATAAGGAAGC	0.502000													4	165					2.56e-06	2.71781e-06	1	1	0
CYP4F12	66002	broad.mit.edu	37	19	15794430	15794430	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:15794430G>A	ENST00000550308.1	+	7	1155	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	CYP4F12_ENST00000324632.9_Missense_Mutation_p.A259T	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.A259T(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTTCCACAGGGCCTGCCGCCT	0.552000													50	140					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131007746	131007746	+	Silent	SNP	A	A	T	rs75277328	by1000genomes	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:131007746A>T	ENST00000307968.7	-	13	2306	c.2307T>A	c.(2305-2307)acT>acA	p.T769T	FNIP1_ENST00000510461.1_Silent_p.T797T|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.T752T	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTGTTTGTTTAGTTTCTTGAT	0.443000													8	453					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53139989	53139989	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:53139989A>G	ENST00000542638.1	-	5	842	c.395T>C	c.(394-396)cTg>cCg	p.L132P	ELOVL5_ENST00000541407.1_Missense_Mutation_p.L159P|ELOVL5_ENST00000304434.6_Missense_Mutation_p.L132P|ELOVL5_ENST00000370918.4_Missense_Mutation_p.L122P			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	132					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					GTTCTTGCGCAGGATGAAGAA	0.488000													3	148					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912563	101912563	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:101912563G>A	ENST00000537097.1	+	6	4535	c.3722G>A	c.(3721-3723)tGt>tAt	p.C1241Y	GPRASP1_ENST00000361600.5_Missense_Mutation_p.C1241Y|GPRASP1_ENST00000444152.1_Missense_Mutation_p.C1241Y|GPRASP1_ENST00000415986.1_Missense_Mutation_p.C1241Y|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1241	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGTAAAGTGTGTGAGGAAACC	0.423000													6	243					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885340	12885340	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:12885340C>T	ENST00000535591.1	-	4	966	c.771G>A	c.(769-771)aaG>aaA	p.K257K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	257										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTGTGAGGACCTTTAACGAGG	0.493000													6	498					0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75938165	75938165	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:75938165G>A	ENST00000307428.7	+	2	786	c.574G>A	c.(574-576)Gca>Aca	p.A192T	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	192					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCTCCAACTGCACCAGAGTC	0.562000													13	1034					0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45822689	45822689	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:45822689A>T	ENST00000177694.1	+	6	1776	c.1565A>T	c.(1564-1566)gAt>gTt	p.D522V		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	522					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCTCCTTTTGATAAGGAAGCT	0.502000													4	162					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440547	179440547	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:179440547G>A	ENST00000589042.1	-	326	70536	c.70312C>T	c.(70312-70314)Cca>Tca	p.P23438S	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14498S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P14565S|TTN_ENST00000342992.6_Missense_Mutation_p.P20870S|TTN_ENST00000460472.2_Missense_Mutation_p.P14373S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P21797S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21797	Fibronectin type-III 70.						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)			TTGAGGACTGGGCCTGGCGTG	0.493000													8	422					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129343630	129343630	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:129343630A>T	ENST00000370978.4	-	16	2192	c.2039T>A	c.(2038-2040)cTc>cAc	p.L680H		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L680Y(1)|p.L680H(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGATTACCTGAGAGTTCCTGA	0.323000													10	65					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89711891	89711891	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:89711891G>A	ENST00000371953.3	+	6	1866	c.509G>A	c.(508-510)aGt>aAt	p.S170N		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	170	Phosphatase tensin-type.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.S170N(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.S170I(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTATTCCCAGTCAGAGGCGC	0.353000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			14	33					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41809886	41809886	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:41809886G>A	ENST00000392006.3	+	13	2155	c.1982G>A	c.(1981-1983)cGc>cAc	p.R661H	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R561H|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R661H|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R561H|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R561H|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R547H|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R572H	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	661	Gly-rich.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GGTTTCAACCGCAGCGGAGGT	0.552000													5	392					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563455	55563455	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:55563455C>T	ENST00000335605.1	+	1	424	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTCACAGAGGCTCTGTGCCCT	0.522000													5	49					0	0	1	0	0
TMED9	54732	broad.mit.edu	37	5	177021158	177021158	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:177021158C>T	ENST00000332598.6	+	4	487	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	TMED9_ENST00000507578.1_3'UTR	NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	144	GOLD.				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGGACATCCAGGTAGGTGA	0.507000													6	721					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172406	7172406	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:7172406A>T	ENST00000406697.1	+	9	1148	c.520A>T	c.(520-522)Aat>Tat	p.N174Y	C1S_ENST00000328916.3_Missense_Mutation_p.N174Y|C1S_ENST00000402681.3_Missense_Mutation_p.N7Y|C1S_ENST00000360817.5_Missense_Mutation_p.N174Y			P09871	C1S_HUMAN	complement component 1, s subcomponent	174					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTGTTAGTTAATTGCAGTGG	0.423000													13	327					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934518	28934518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:28934518C>T	ENST00000257192.4	+	15	2571	c.2359C>T	c.(2359-2361)Cag>Tag	p.Q787*	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Nonsense_Mutation_p.Q146*|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	787					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.Q787*(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTGCCTTCCTCAGGAAACAGA	0.483000													65	378					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63032904	63032904	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:63032904G>A	ENST00000561311.1	+	31	4191	c.3961G>A	c.(3961-3963)Gcc>Acc	p.A1321T	TLN2_ENST00000306829.6_Missense_Mutation_p.A1321T			Q9Y4G6	TLN2_HUMAN	talin 2	1321					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCTGTTAGCTGCCAAGTCTCT	0.507000													9	881					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9783816	9783816	+	Silent	SNP	C	C	T	rs2227839	by1000genomes	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:9783816C>T	ENST00000304374.2	+	1	559	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	55					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CATCTGGACCCTGCTGGGCAA	0.687000													4	50					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000581463.1_Intron|DHRS7B_ENST00000579303.1_Splice_Site	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							integral to membrane|peroxisomal membrane	binding|oxidoreductase activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						TATTTATTTTAGTTATGGACA	0.517000													10	221					0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22969285	22969285	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:22969285C>A	ENST00000356864.3	+	2	645	c.113C>A	c.(112-114)aCa>aAa	p.T38K	TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_Intron	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	38					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCCCAGCAGACAGTGGCCCCA	0.512000													19	218					1.64293e-13	1.83866e-13	1	1	0
ZNF468	90333	broad.mit.edu	37	19	53345260	53345260	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:53345260C>G	ENST00000595646.1	-	4	407	c.287G>C	c.(286-288)gGc>gCc	p.G96A	ZNF468_ENST00000396409.4_Missense_Mutation_p.G43A|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.G43A|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AAACTCGAAGCCATGAATGTC	0.428000													6	459					0	0	1	0	0
IKZF5	64376	broad.mit.edu	37	10	124753660	124753660	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:124753660G>A	ENST00000368886.5	-	5	1216	c.896C>T	c.(895-897)gCc>gTc	p.A299V	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TGCTGATACGGCAGAAACTAC	0.522000													4	251					0	0	1	0	0
JAM3	83700	broad.mit.edu	37	11	134014151	134014151	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:134014151G>A	ENST00000299106.4	+	4	431	c.272G>A	c.(271-273)cGt>cAt	p.R91H	JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Intron|JAM3_ENST00000529443.2_Missense_Mutation_p.R136H			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	91	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TTGGCGGGTCGTGCAGAAATA	0.488000													7	451					0	0	1	0	0
ZMAT2	153527	broad.mit.edu	37	5	140083501	140083501	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:140083501A>T	ENST00000274712.3	+	4	363		c.e4-1			NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2							nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCTGTTAGATATTACTG	0.368000													6	327					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95728781	95728781	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:95728781T>A	ENST00000311106.3	-	14	2423	c.2186A>T	c.(2185-2187)tAt>tTt	p.Y729F	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.Y682F	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	729					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTAGTGTTATAAAAAACATC	0.408000													10	922					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30138759	30138759	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:30138759T>C	ENST00000376694.4	+	6	1323	c.854T>C	c.(853-855)tTg>tCg	p.L285S	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	285	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						TCAGAAAACTTGGCGCATCAT	0.428000													6	115					0	0	1	0	0
LRR1	122769	broad.mit.edu	37	14	50074360	50074360	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:50074360C>A	ENST00000298288.6	+	3	849	c.525C>A	c.(523-525)tgC>tgA	p.C175*	LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	175										kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTATGCTTTGCTTAAAAAGCC	0.378000													4	97					5.9392e-07	6.37077e-07	1	1	0
ST8SIA2	8128	broad.mit.edu	37	15	92981692	92981692	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:92981692A>C	ENST00000268164.3	+	4	637	c.400A>C	c.(400-402)Aat>Cat	p.N134H	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.N113H	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	134					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CAGCACCATGAATGTGTCCCA	0.483000													6	403					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131733202	131733202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:131733202C>T	ENST00000372577.2	+	11	1099	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	360					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTACTTGACCCGATTGCTCCA	0.517000													5	318					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911546	88911546	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:88911546A>T	ENST00000263321.5	+	1	927	c.425A>T	c.(424-426)aAg>aTg	p.K142M	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	142			K -> N (in dbSNP:rs11545463).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ACTTTAGCAAAGCATACCATC	0.433000													7	596					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79735787	79735787	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:79735787G>C	ENST00000275034.4	-	8	862	c.695C>G	c.(694-696)gCt>gGt	p.A232G		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	232					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATAGTTTACAGCCATGTCTGA	0.438000													14	1123					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029550	219029550	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:219029550C>T	ENST00000295683.2	-	2	505	c.385G>A	c.(385-387)Gcc>Acc	p.A129T		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	129					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						CTGATGCAGGCCAACAGCAGG	0.547000													4	116					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20435393	20435393	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:20435393T>A	ENST00000331849.4	+	6	1068		c.e6+2			NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATCCTGAATGTAAGAGGAAAA	0.438000													7	205					0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971086	118971086	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:118971086C>T	ENST00000409993.2	-	6	2080	c.529G>A	c.(529-531)Gca>Aca	p.A177T	DPAGT1_ENST00000354202.4_Missense_Mutation_p.A177T|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A70T			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	177					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CAGAACACTGCCAGCAGCCCC	0.468000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	321					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160086803	160086803	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:160086803T>A	ENST00000263635.6	+	27	5103	c.4866T>A	c.(4864-4866)agT>agA	p.S1622R	TANC1_ENST00000454300.1_Missense_Mutation_p.S1516R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1622						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						CTTTACCAAGTAAGACGAAAA	0.602000													8	274					0	0	1	0	0
RCL1	10171	broad.mit.edu	37	9	4826861	4826861	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:4826861C>T	ENST00000381750.4	+	3	435	c.212C>T	c.(211-213)aCa>aTa	p.T71I	RCL1_ENST00000381732.3_Missense_Mutation_p.T71I	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	71					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	p.T71I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		GTTTAAGGAACAACCTTATAT	0.443000													9	255					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105298815	105298815	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:105298815C>T	ENST00000262903.4	-	3	464	c.188G>A	c.(187-189)cGt>cAt	p.R63H	HACE1_ENST00000369125.2_Missense_Mutation_p.R63H	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	63					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCTTTTCACACGTCCGAATGC	0.333000													10	717					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114968131	114968131	+	Silent	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:114968131A>T	ENST00000358465.2	-	9	1718	c.1635T>A	c.(1633-1635)acT>acA	p.T545T	TRIM33_ENST00000450349.2_Silent_p.T153T|TRIM33_ENST00000369543.2_Silent_p.T545T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	545	Poly-Thr.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTTGTTGTAGTTGGTACAG	0.428000			T	RET	papillary thyroid								8	520					0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32429660	32429660	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:32429660A>T	ENST00000282587.5	+	11	704	c.665_splice	c.e11-1	p.N223_splice	SLC30A6_ENST00000538303.1_Splice_Site_p.N194_splice|SLC30A6_ENST00000379343.2_Splice_Site_p.N263_splice|SLC30A6_ENST00000357055.3_Splice_Site_p.N26_splice|SLC30A6_ENST00000435660.1_Splice_Site_p.N223_splice|SLC30A6_ENST00000406369.1_Splice_Site_p.N149_splice	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	223						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCTTTTAGTAATTATTTTGC	0.343000													3	43					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TGGTTAAAACTAAATAACCAA	0.303000													3	42					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13214430	13214430	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:13214430T>A	ENST00000378694.1	+	3	479	c.404T>A	c.(403-405)gTa>gAa	p.V135E	MCM10_ENST00000378714.3_Missense_Mutation_p.V135E|MCM10_ENST00000484800.2_Missense_Mutation_p.V135E			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	135					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CAGCTAAAAGTAACAACAATT	0.378000													8	367					0	0	1	0	0
C20orf196	149840	broad.mit.edu	37	20	5843977	5843977	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:5843977G>A	ENST00000303142.6	+	3	573	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	162										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						TCTTACAGAGGCATTCCAGGG	0.507000													7	498					0	0	1	0	0
RALA	5898	broad.mit.edu	37	7	39729979	39729979	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:39729979A>T	ENST00000005257.2	+	3	494		c.e3-1		RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)						actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						TATCTTTTCTAGTTTGTGGAG	0.358000													5	216					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370208	35370208	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:35370208G>A	ENST00000373347.1	-	3	1045	c.777C>T	c.(775-777)ggC>ggT	p.G259G	DLGAP3_ENST00000235180.4_Silent_p.G259G			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	259					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AACTCCACCAGCCTGTGGACT	0.652000													4	231					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133858024	133858024	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:133858024A>T	ENST00000395386.2	+	21	3210		c.e21-1		PHF20L1_ENST00000395390.2_Splice_Site|PHF20L1_ENST00000220847.7_Splice_Site	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1								nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCTCTCTTTTAGTTCTGGAAA	0.413000													7	72					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495567	6495567	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:6495567C>T	ENST00000264071.2	-	4	1314	c.943G>A	c.(943-945)Gcc>Acc	p.A315T	TUBB4A_ENST00000540257.1_Missense_Mutation_p.A315T			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	315					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.A315T(1)									CGGAACACGGCGGCCACGGTC	0.647000													5	111					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	188					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTAGTTGTTACATTATATGC	0.348000			T	ETV1	prostate								9	182					0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131565556	131565556	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:131565556C>T	ENST00000372648.5	+	8	721	c.571C>T	c.(571-573)Cca>Tca	p.P191S	TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000539497.1_Missense_Mutation_p.P10S|TBC1D13_ENST00000466056.1_3'UTR	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	191	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						GAACTCTGTGCCATCATCCCT	0.557000													6	316					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53588783	53588783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:53588783G>A	ENST00000342160.3	-	54	7898	c.7441C>T	c.(7441-7443)Cga>Tga	p.R2481*	HUWE1_ENST00000262854.6_Nonsense_Mutation_p.R2481*			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2481	Asp-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CGCTCAAATCGGACCAAGGGA	0.478000													6	174					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25283576	25283576	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:25283576G>C	ENST00000218548.6	+	18	2919	c.2586G>C	c.(2584-2586)aaG>aaC	p.K862N	ATP12A_ENST00000381946.3_Missense_Mutation_p.K856N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	856					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ACAAGAATAAGGACAGGCTGG	0.562000													32	35					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:88967931A>T	ENST00000237596.2	+	6	1523	c.1457A>T	c.(1456-1458)tAc>tTc	p.Y486F	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	486						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TTTATCTTTTACTATGTGGTG	0.383000													4	109					0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34843708	34843708	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:34843708G>T	ENST00000299505.6	+	14	3934	c.3061G>T	c.(3061-3063)Gcc>Tcc	p.A1021S	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	1021										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCCAGTGTGGGCCGCAACCAA	0.652000													6	56					8.12818e-05	8.45549e-05	1	1	0
ZNF157	7712	broad.mit.edu	37	X	47271968	47271968	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:47271968G>A	ENST00000377073.3	+	4	582	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	166					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGAATGTCATGAATGTGGGAA	0.393000													10	94					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101764897	101764897	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:101764897A>T	ENST00000261637.4	+	51	6923	c.6749A>T	c.(6748-6750)aAg>aTg	p.K2250M		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2250					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						AAAGTATCCAAGTTGGCAGTC	0.473000													5	248					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29116293	29116293	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:29116293G>C	ENST00000261590.8	+	11	1761	c.1552G>C	c.(1552-1554)Gag>Cag	p.E518Q		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	518					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.E518Q(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGTTACTGCAGAGGACCTGGA	0.468000													47	128					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52824839	52824839	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:52824839T>G	ENST00000273283.2	+	20	2420	c.2396T>G	c.(2395-2397)tTg>tGg	p.L799W	ITIH1_ENST00000405128.3_Missense_Mutation_p.L165W|ITIH1_ENST00000540715.1_Missense_Mutation_p.L657W|ITIH1_ENST00000537050.1_Missense_Mutation_p.L511W|ITIH1_ENST00000542827.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	799	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAGGTTGTTTTGCACCGAGTG	0.612000													10	727					0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45974674	45974674	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:45974674A>T	ENST00000260324.7	+	7	1250		c.e7-1		SQRDL_ENST00000568606.1_Splice_Site	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)								oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CTTTGTGTGTAGTATGAAATG	0.453000													6	332					0	0	1	0	0
SMAD5	4090	broad.mit.edu	37	5	135508242	135508242	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:135508242T>A	ENST00000545279.1	+	6	1255	c.895T>A	c.(895-897)Ttc>Atc	p.F299I	SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Missense_Mutation_p.F299I	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	299	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTAGATGGATTCACAGATCC	0.348000													4	261					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123843652	123843652	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:123843652C>T	ENST00000369005.1	+	4	1977	c.1637C>T	c.(1636-1638)cCa>cTa	p.P546L	TACC2_ENST00000515603.1_Missense_Mutation_p.P546L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.P546L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P546L|TACC2_ENST00000334433.3_Missense_Mutation_p.P546L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	546	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCAGAGGGCCACCGGGGCCA	0.597000													3	23					0	0	1	0	0
EFCAB2	84288	broad.mit.edu	37	1	245222709	245222709	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:245222709G>C	ENST00000366522.2	+	4	681	c.540G>C	c.(538-540)agG>agC	p.R180S	EFCAB2_ENST00000447569.2_Missense_Mutation_p.R44S|EFCAB2_ENST00000487845.1_3'UTR|EFCAB2_ENST00000366523.1_Missense_Mutation_p.R44S			Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	180	EF-hand 1.						calcium ion binding	p.R44S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			CAATTATCAGGTCATTAGGAT	0.418000													11	134					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42608328	42608328	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:42608328A>T	ENST00000359486.3	-	1	3120	c.2984T>A	c.(2983-2985)gTt>gAt	p.V995D	TCF20_ENST00000335626.4_Missense_Mutation_p.V995D	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	995					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCGACCACCAACTCTGCCAGG	0.597000													16	82					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34814686	34814686	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:34814686A>T	ENST00000265109.3	+	12	1139		c.e12-1		RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000506376.1_Splice_Site|RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14							cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTTCTTTTTTAGTTGAGTGAT	0.368000													5	46					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84812514	84812514	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:84812514C>T	ENST00000219473.7	+	14	2336	c.2223C>T	c.(2221-2223)caC>caT	p.H741H	USP10_ENST00000570191.1_Silent_p.H745H	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	741					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TCTACCATCACGGCAACAGTG	0.572000													5	265					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81650576	81650576	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:81650576G>A	ENST00000558726.1	-	7	792	c.657C>T	c.(655-657)atC>atT	p.I219I	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Silent_p.I219I|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	219						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CAGCTCTCCCGATCTTCCTCT	0.493000													9	1055					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101083837	101083837	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:101083837T>A	ENST00000394095.2	-	10	1372		c.e10-2		SENP7_ENST00000314261.7_Splice_Site|SENP7_ENST00000394094.2_Splice_Site|SENP7_ENST00000394091.1_Splice_Site|SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000358203.3_Splice_Site	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7						proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAACAACAACTAAAACGGAAA	0.333000													2	1					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140732084	140732084	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:140732084G>T	ENST00000523390.1	+	1	2257	c.2257G>T	c.(2257-2259)Gcc>Tcc	p.A753S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTATGTATTGCCTCTCATTC	0.512000													9	450					0.00136819	0.00140444	1	1	0
SYK	6850	broad.mit.edu	37	9	93607832	93607832	+	Silent	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:93607832T>C	ENST00000375754.4	+	3	682	c.534T>C	c.(532-534)tcT>tcC	p.S178S	SYK_ENST00000375747.1_Silent_p.S178S|SYK_ENST00000375751.4_Silent_p.S178S|SYK_ENST00000375746.1_Silent_p.S178S	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	178	SH2 2.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GGGAAGAATCTGAGCAAATTG	0.498000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								3	127					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129343631	129343631	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:129343631G>A	ENST00000370978.4	-	16	2191	c.2038C>T	c.(2038-2040)Ctc>Ttc	p.L680F		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L680Y(1)|p.L680F(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GATTACCTGAGAGTTCCTGAA	0.323000													10	65					0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22759300	22759300	+	Silent	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:22759300C>A	ENST00000454584.2	+	5	764	c.459C>A	c.(457-459)ggC>ggA	p.G153G	GAS2_ENST00000433790.1_Silent_p.G153G|GAS2_ENST00000278187.3_Silent_p.G153G	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	153	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TAGAGCTTGGCCGGATTGCAG	0.473000													9	351					4.68919e-08	5.10052e-08	1	1	0
PRKD2	25865	broad.mit.edu	37	19	47204057	47204057	+	Splice_Site	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:47204057T>C	ENST00000433867.1	-	8	1597	c.1121_splice	c.e8+1	p.S374_splice	PRKD2_ENST00000595515.1_Splice_Site_p.S374_splice|PRKD2_ENST00000291281.4_Splice_Site_p.S374_splice|PRKD2_ENST00000600194.1_Splice_Site_p.S217_splice|PRKD2_ENST00000601806.1_Splice_Site_p.S217_splice	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	374					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGTGTATACCTCTGGGCCTTG	0.552000													3	176					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117840383	117840383	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:117840383C>T	ENST00000350763.4	-	7	2924	c.2513G>A	c.(2512-2514)gGc>gAc	p.G838D	TNC_ENST00000423613.2_Missense_Mutation_p.G838D|TNC_ENST00000346706.3_Missense_Mutation_p.G838D|TNC_ENST00000341037.4_Missense_Mutation_p.G838D|TNC_ENST00000340094.3_Missense_Mutation_p.G838D|TNC_ENST00000537320.1_Missense_Mutation_p.G838D|TNC_ENST00000535648.1_Missense_Mutation_p.G838D|TNC_ENST00000542877.1_Missense_Mutation_p.G838D|TNC_ENST00000345230.3_Missense_Mutation_p.G838D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	838	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTCTTTGATGCCGTAGGTCAG	0.562000													20	1523					0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120651648	120651648	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:120651648G>A	ENST00000397506.3	-	8	1995	c.942C>T	c.(940-942)tgC>tgT	p.C314C	PXN_ENST00000228307.7_Silent_p.C502C|PXN_ENST00000424649.2_Silent_p.C468C|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000267257.7_Silent_p.C516C|PXN_ENST00000458477.2_Silent_p.C335C|PXN_ENST00000536957.1_Silent_p.C500C			P49023	PAXI_HUMAN	paxillin	502					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTTACCCGGCACACAAAGC	0.607000													3	40					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88799246	88799246	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:88799246G>A	ENST00000394480.1	-	3	460	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	NTRK3_ENST00000558676.1_Missense_Mutation_p.R47W|NTRK3_ENST00000317501.3_Missense_Mutation_p.R47W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R47W|NTRK3_ENST00000557856.1_Missense_Mutation_p.R47W|NTRK3_ENST00000540489.2_Missense_Mutation_p.R47W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R47W|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000360948.2_Missense_Mutation_p.R47W	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	47					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCGTCCGGCCGCCGGCAATTG	0.557000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			3	28					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61633050	61633050	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:61633050A>T	ENST00000398571.2	-	3	421	c.345T>A	c.(343-345)agT>agA	p.S115R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	115					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTCTTTCTGTACTTCCTTCAT	0.328000													6	214					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711084	58711084	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:58711084G>C	ENST00000300079.5	+	2	143	c.93G>C	c.(91-93)agG>agC	p.R31S	GLYATL1_ENST00000317391.4_5'UTR|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	0						mitochondrion	glycine N-acyltransferase activity	p.R31S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	aacacggaaggtacctgcagg	0.458000													5	51					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21151890	21151890	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:21151890A>T	ENST00000261383.3	-	5	662	c.663T>A	c.(661-663)agT>agA	p.S221R	DNAH3_ENST00000415178.1_Missense_Mutation_p.S221R|DNAH3_ENST00000575491.1_5'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	221	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)		TCTTTTCTTTACTTTCCATTT	0.483000													5	236					0	0	1	0	0
NPL	80896	broad.mit.edu	37	1	182794914	182794914	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:182794914A>T	ENST00000367554.3	+	10	999		c.e10-1		NPL_ENST00000367552.2_Splice_Site|NPL_ENST00000367555.1_Splice_Site|NPL_ENST00000367553.1_Splice_Site|NPL_ENST00000258317.2_Splice_Site|NPL_ENST00000463899.1_Splice_Site	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)						carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						GTTCTTTTCTAGTTTTGTATC	0.338000													16	479					0	0	1	0	0
TREM1	54210	broad.mit.edu	37	6	41250305	41250305	+	Silent	SNP	A	A	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:41250305A>G	ENST00000591620.1	-	2	260	c.234T>C	c.(232-234)caT>caC	p.H78H	TREM1_ENST00000244709.4_Silent_p.H78H|TREM1_ENST00000589614.1_Silent_p.H78H|TREM1_ENST00000334475.6_Silent_p.H78H	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	78	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	CTTGGACTGGATGGGAATTCT	0.493000													6	108					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157178080	157178080	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:157178080C>A	ENST00000362010.2	-	4	726	c.419G>T	c.(418-420)gGc>gTc	p.G140V	VEPH1_ENST00000392833.2_Missense_Mutation_p.G140V|VEPH1_ENST00000494677.1_Missense_Mutation_p.G140V|VEPH1_ENST00000537559.1_Missense_Mutation_p.G140V|VEPH1_ENST00000468233.1_Missense_Mutation_p.G140V|VEPH1_ENST00000543418.1_Missense_Mutation_p.G140V|VEPH1_ENST00000392832.2_Missense_Mutation_p.G140V	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	140						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTCCTTGTTGCCTCTGTGGAG	0.448000													30	342					4.02929e-09	4.42936e-09	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73205320	73205320	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:73205320G>A	ENST00000286657.4	-	5	788	c.752C>T	c.(751-753)gCg>gTg	p.A251V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	251					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.A251V(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTTTCTCCCGCGTGTCTGCG	0.498000													7	268					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149200058	149200058	+	Silent	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:149200058G>A	ENST00000309241.5	+	2	173	c.141G>A	c.(139-141)ctG>ctA	p.L47L	PPARGC1B_ENST00000360453.4_Silent_p.L47L|PPARGC1B_ENST00000394320.3_Silent_p.L47L|PPARGC1B_ENST00000403750.1_Silent_p.L22L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	47	Abolishes DNA transcriptional activity when missing.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTCCCAGCTGGATGCCAGCG	0.582000													7	460					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31864479	31864479	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:31864479C>T	ENST00000395728.3	-	2	402	c.403G>A	c.(403-405)Ggg>Agg	p.G135R	EHMT2_ENST00000375528.4_Missense_Mutation_p.G135R|EHMT2_ENST00000375530.4_Missense_Mutation_p.G78R|EHMT2_ENST00000375537.4_Missense_Mutation_p.G78R			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	78					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GTGTCAGCCCCCTCATCACCA	0.617000													3	96					0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72610086	72610086	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:72610086C>T	ENST00000392619.1	-	3	591	c.556G>A	c.(556-558)Gag>Aag	p.E186K	CD300E_ENST00000328630.3_Missense_Mutation_p.E159K|CD300E_ENST00000426295.2_Missense_Mutation_p.E200K	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	159						integral to membrane|plasma membrane	receptor activity	p.E200K(1)|p.E159K(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCAACACCTCCCCGGTGCTG	0.612000													19	88					0	0	1	0	0
TUBA1C	84790	broad.mit.edu	37	12	49663651	49663651	+	Silent	SNP	T	T	C	rs139840621	by1000genomes	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:49663651T>C	ENST00000301072.6	+	3	542	c.267T>C	c.(265-267)ccT>ccC	p.P89P	TUBA1C_ENST00000541364.1_Silent_p.P159P|TUBA1C_ENST00000549183.1_Silent_p.P89P|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	89					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						TCTTCCACCCTGAGCAACTCA	0.557000													12	1689					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132440131	132440131	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:132440131G>A	ENST00000370828.3	-	5	1453	c.929C>T	c.(928-930)tCg>tTg	p.S310L	GPC4_ENST00000535467.1_Missense_Mutation_p.S240L	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	310					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ATCCATGACCGATTCAATGTT	0.418000													4	226					0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119155805	119155805	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:119155805C>T	ENST00000319172.5	-	7	1365	c.945G>A	c.(943-945)atG>atA	p.M315I		NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	315						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ATGACCAGCGCATGTCATAGT	0.453000													7	640					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152418678	152418678	+	Silent	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:152418678A>T	ENST00000397345.3	-	121	19144	c.18942T>A	c.(18940-18942)gtT>gtA	p.V6314V	NEB_ENST00000172853.10_Silent_p.V4613V|NEB_ENST00000427231.2_Silent_p.V6314V|NEB_ENST00000603639.1_Silent_p.V6314V|NEB_ENST00000409198.1_Silent_p.V4613V|NEB_ENST00000604864.1_Silent_p.V6314V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6319					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGTATCCCAAACGTAGCAAC	0.428000													8	583					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18390735	18390735	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:18390735A>T	ENST00000338745.6	-	11	3953	c.2219T>A	c.(2218-2220)cTt>cAt	p.L740H	SATB1_ENST00000454909.2_Missense_Mutation_p.L740H|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.L772H	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	740					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CACTGAAAAAAGGGTGTTAGT	0.378000													4	99					0	0	1	0	0
TSPAN33	340348	broad.mit.edu	37	7	128806690	128806690	+	Silent	SNP	C	C	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:128806690C>T	ENST00000289407.4	+	6	640	c.531C>T	c.(529-531)aaC>aaT	p.N177N		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	177						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CAGAAGACAACCCCAGTCGAG	0.522000													11	1208					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321257	79321257	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:79321257T>C	ENST00000428286.1	-	8	6056	c.4856A>G	c.(4855-4857)gAg>gGg	p.E1619G	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1978G			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1978					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACTATTTTCCTCTGCGTGAGT	0.438000													5	337					0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72914297	72914297	+	Splice_Site	SNP	T	T	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:72914297T>A	ENST00000322342.3	-	2	499		c.e2-2		ZADH2_ENST00000537114.2_Splice_Site	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2							peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CCAACAAATCTAAAAGAAAAC	0.428000													8	289					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10356638	10356638	+	Splice_Site	SNP	A	A	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:10356638A>T	ENST00000377086.1	+	20	1979		c.e20-1		KIF1B_ENST00000377083.1_Splice_Site|KIF1B_ENST00000377093.4_Splice_Site|KIF1B_ENST00000263934.6_Splice_Site|KIF1B_ENST00000377081.1_Splice_Site			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGTTCCTCTTAGTTATCGTGA	0.433000													5	127					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													2	5					0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215440508	215440508	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:215440508T>G	ENST00000312504.5	+	4	1435	c.633T>G	c.(631-633)tgT>tgG	p.C211W	AC107218.3_ENST00000412896.1_RNA|VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	211						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CTGCTCAGTGTTCGAAACGTG	0.473000													13	2035					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21936093	21936094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:21936093_21936094insG	ENST00000542643.2	-	16	1347_1348	c.1045_1046insC	c.(1045-1047)cccfs	p.P349fs	RAP1GAP_ENST00000374761.2_Frame_Shift_Ins_p.P380fs|RAP1GAP_ENST00000374763.2_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000374765.4_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000290101.4_Frame_Shift_Ins_p.P413fs	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	349	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GGGGTCCGGGAGGGGGGGTCCA	0.634													15	1343	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	369	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													13	462	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)gggfs	p.G310fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	310	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGACCACCTCGGGGGGCTTTG	0.500													10	596	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32673442	32673443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:32673442_32673443insG	ENST00000537469.1	+	5	1447_1448	c.1400_1401insG	c.(1399-1401)tggfs	p.W467fs	IQCC_ENST00000291358.6_Frame_Shift_Ins_p.W387fs	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	387										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGGTACCTTGGGGGGGCCAG	0.550													10	79	---	---	---	---					
KIAA1522	57648	broad.mit.edu	37	1	33233494	33233495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:33233494_33233495insC	ENST00000401073.2	+	2	412_413	c.342_343insC	c.(340-345)cgccccfs	p.RP114fs	KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	55			S -> P (in dbSNP:rs3737994).							breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGTGGGCGACCCCCCCACCT	0.614													7	135	---	---	---	---					
CSMD2	114784	broad.mit.edu	37	1	34180227	34180228	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:34180227_34180228insC	ENST00000373381.4	-	21	3541_3542	c.3365_3366insG	c.(3364-3366)gagfs	p.E1122fs		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1082	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCGCCGTCTGCCCCCCAGGCA	0.599													10	751	---	---	---	---					
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:36935322_36935323insG	ENST00000373103.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)ccgcgcfs	p.R469fs	CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	469	Fibronectin type-III 4.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTGCTCGCGCTGGGGGGGCCCA	0.634													11	233	---	---	---	---					
ST3GAL3	6487	broad.mit.edu	37	1	44386217	44386218	+	Frame_Shift_Ins	INS	-	-	G	rs137939894		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:44386217_44386218insG	ENST00000262915.3	+	11	1270_1271	c.1093_1094insG	c.(1093-1095)gggfs	p.G365fs	ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000347631.2_Frame_Shift_Ins_p.G311fs|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000351035.3_Frame_Shift_Ins_p.G334fs|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000372375.2_Frame_Shift_Ins_p.G350fs|ST3GAL3_ENST00000372372.2_Frame_Shift_Ins_p.G334fs|ST3GAL3_ENST00000361746.4_Frame_Shift_Ins_p.G365fs|ST3GAL3_ENST00000335430.6_Frame_Shift_Ins_p.AG217fs|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372368.2_Frame_Shift_Ins_p.G350fs|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000332628.6_Frame_Shift_Ins_p.G265fs|ST3GAL3_ENST00000372369.1_Frame_Shift_Ins_p.G266fs|ST3GAL3_ENST00000372374.2_Frame_Shift_Ins_p.G265fs|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000361392.4_Frame_Shift_Ins_p.G296fs|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000361400.4_Frame_Shift_Ins_p.G280fs	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	296					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	p.R365Q(1)		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)				CCTCATGGGCCGGGGGGTGAGA	0.604													7	167	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)tatfs	p.Y69fs	PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCTTGAAATATCCCCCCAGTAC	0.381													7	943	---	---	---	---					
LRP8	7804	broad.mit.edu	37	1	53728210	53728211	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:53728210_53728211insC	ENST00000306052.6	-	11	1782_1783	c.1681_1682insG	c.(1681-1683)ccafs	p.P561fs	LRP8_ENST00000465675.1_Frame_Shift_Ins_p.P114fs|LRP8_ENST00000354412.3_Frame_Shift_Ins_p.P432fs|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.P391fs|LRP8_ENST00000371454.2_Frame_Shift_Ins_p.P561fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	561					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTTGGCCTGGTCCCCCCAGTCA	0.515													7	1150	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													36	671	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													10	194	---	---	---	---					
INADL	10207	broad.mit.edu	37	1	62253579	62253580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:62253579_62253580insC	ENST00000371158.2	+	8	1117_1118	c.1003_1004insC	c.(1003-1005)cccfs	p.P335fs	INADL_ENST00000316485.6_Frame_Shift_Ins_p.P335fs	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	335					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CATTTCAGTCACCCCCCCTGCC	0.505													13	279	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:65325832_65325833insG	ENST00000342505.4	-	9	1537_1538	c.1289_1290insC	c.(1288-1290)cttfs	p.L430fs		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	430					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)		GGACGATCAACGGGGGGGCCAC	0.540			Mis		ALL								14	361	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													9	189	---	---	---	---					
LRRC8C	84230	broad.mit.edu	37	1	90179646	90179647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:90179646_90179647insC	ENST00000370454.4	+	3	1772_1773	c.1517_1518insC	c.(1516-1518)cccfs	p.P506fs	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	506						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATGAGGGAACTCCCCCCCTGGA	0.500													12	162	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													17	331	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													35	434	---	---	---	---					
MAGI3	260425	broad.mit.edu	37	1	114216006	114216007	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:114216006_114216007insG	ENST00000369615.1	+	19	3170_3171	c.3108_3109insG	c.(3106-3111)cgggggfs	p.RG1036fs	MAGI3_ENST00000369611.4_Frame_Shift_Ins_p.RG1036fs|MAGI3_ENST00000369617.4_Frame_Shift_Ins_p.RG1061fs|MAGI3_ENST00000307546.9_Frame_Shift_Ins_p.RG1036fs	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1061					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		TCAGCCTCCGAGGGGGGAAGGA	0.490													8	535	---	---	---	---					
NBPF10	100132406	broad.mit.edu	37	1	145297684	145297685	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:145297684_145297685insC	ENST00000342960.5	+	4	594_595	c.559_560insC	c.(559-561)cccfs	p.P187fs	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	187										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGAATCATCTGCCCCCAGGTAA	0.436													9	1884	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	542					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554													36	1025	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													21	1116	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584150	145584151	+	Frame_Shift_Ins	INS	-	-	G	rs34574009		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:145584150_145584151insG	ENST00000393045.2	+	11	1391_1392	c.1301_1302insG	c.(1300-1302)cggfs	p.R434fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.R399fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	434					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCCCAGTCCAGGGGGGAGATC	0.495													8	675	---	---	---	---					
SF3B4	10262	broad.mit.edu	37	1	149895561	149895562	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:149895561_149895562insG	ENST00000271628.8	-	6	1731_1732	c.1147_1148insC	c.(1147-1149)tggfs	p.W383fs		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	383						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.H383fs*>43(1)|p.H383fs*>42(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AGTGTATCCATGGGGGGGCATC	0.624													11	111	---	---	---	---					
TARS2	80222	broad.mit.edu	37	1	150471073	150471074	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:150471073_150471074insG	ENST00000369064.3	+	11	1368_1369	c.1334_1335insG	c.(1333-1335)cggfs	p.R445fs	TARS2_ENST00000606933.1_Frame_Shift_Ins_p.R363fs|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.R315fs	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	445					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCTGGTGGTCTGGGGGGACTGA	0.609													14	954	---	---	---	---					
SETDB1	9869	broad.mit.edu	37	1	150917623	150917624	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:150917623_150917624insG	ENST00000368962.2	+	9	1305_1306	c.1179_1180insG	c.(1177-1182)ggggggfs	p.GG393fs	SETDB1_ENST00000368969.4_Intron|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000271640.5_Intron	NM_001243491.1	NP_001230420.1	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	0	Tudor 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAGGTTGGTGGGGGGGGAAC	0.475													21	202	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													24	720	---	---	---	---					
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:153317810_153317811insC	ENST00000368739.3	-	4	533_534	c.175_176insG	c.(175-177)agafs	p.R59fs	PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589													12	1388	---	---	---	---					
DENND4B	9909	broad.mit.edu	37	1	153916546	153916547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:153916546_153916547insG	ENST00000361217.4	-	2	722_723	c.304_305insC	c.(304-306)cgtfs	p.R102fs		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	102	MABP.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCTCAACGAGGGGGGGCTTG	0.634													7	175	---	---	---	---					
SLC39A1	27173	broad.mit.edu	37	1	153934780	153934781	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:153934780_153934781insC	ENST00000368623.3	-	2	992_993	c.233_234insG	c.(232-234)ggtfs	p.G78fs	SLC39A1_ENST00000368621.1_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000310483.6_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000356205.4_Frame_Shift_Ins_p.G78fs|SLC39A1_ENST00000537590.1_Intron			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	78						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CCAAAAAGACGCCCCCCGCGAA	0.614													12	197	---	---	---	---					
IL6R	3570	broad.mit.edu	37	1	154401729	154401730	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:154401729_154401730insG	ENST00000368485.3	+	2	580_581	c.143_144insG	c.(142-144)cggfs	p.R48fs	IL6R_ENST00000344086.4_Frame_Shift_Ins_p.R48fs	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	48	Ig-like C2-type.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	p.P48P(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGACCTGCCCGGGGGTAGAGC	0.639													7	507	---	---	---	---					
RUSC1	23623	broad.mit.edu	37	1	155297993	155297994	+	Frame_Shift_Ins	INS	-	-	G	rs149617084		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:155297993_155297994insG	ENST00000368352.5	+	9	2618_2619	c.2467_2468insG	c.(2467-2469)gggfs	p.G823fs	RUSC1_ENST00000368347.4_Frame_Shift_Ins_p.G413fs|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Frame_Shift_Ins_p.G354fs|RUSC1_ENST00000368354.3_Frame_Shift_Ins_p.G717fs|RUSC1_ENST00000368349.4_Frame_Shift_Ins_p.G354fs	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	823						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCTTGTGAAGCGGGGGGCACCT	0.564													9	484	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694022	156694023	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:156694022_156694023insG	ENST00000313146.6	-	2	1647_1648	c.865_866insC	c.(865-867)caafs	p.Q289fs	ISG20L2_ENST00000472824.1_5'UTR|ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.Q289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCGGTTGAGGGGGGGGATA	0.559													15	166	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:156708444_156708445insG	ENST00000368211.4	-	2	190_191	c.52_53insC	c.(52-54)ttafs	p.L18fs	MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	18					translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATAGCGGTAATGGGGGGGCAGA	0.574													15	391	---	---	---	---					
ARHGEF11	9826	broad.mit.edu	37	1	156918292	156918293	+	Splice_Site	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:156918292_156918293insG	ENST00000368194.3	-	23	2965		c.e23-2		ARHGEF11_ENST00000361409.2_Splice_Site|ARHGEF11_ENST00000315174.8_Splice_Site	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGCGTGAACTGGGGGGAAGGG	0.569													8	451	---	---	---	---					
KIRREL	55243	broad.mit.edu	37	1	158058202	158058203	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:158058202_158058203insC	ENST00000368172.1	+	4	408_409	c.396_397insC	c.(394-399)aaccccfs	p.NP132fs	KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs|KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	334	Ig-like C2-type 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGTTGGGAATCCCCCCCTCAC	0.455													10	313	---	---	---	---					
CCDC19	25790	broad.mit.edu	37	1	159860345	159860346	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:159860345_159860346insT	ENST00000368099.4	-	3	260_261	c.196_197insA	c.(196-198)tctfs	p.S66fs	CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	66						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGCAGTGAGAGTTTTTTGAAGG	0.540													9	992	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:175096158_175096159insC	ENST00000239462.4	+	13	3095_3096	c.2982_2983insC	c.(2980-2985)acccccfs	p.TP994fs		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	994	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGACCTGGACGCCCCCCTCTGC	0.505													9	999	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													20	388	---	---	---	---					
ABL2	27	broad.mit.edu	37	1	179084038	179084039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:179084038_179084039insG	ENST00000502732.1	-	9	1738_1739	c.1535_1536insC	c.(1534-1536)caafs	p.Q512fs	ABL2_ENST00000507173.1_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000504405.1_Frame_Shift_Ins_p.Q476fs|ABL2_ENST00000344730.3_Frame_Shift_Ins_p.Q497fs|ABL2_ENST00000367623.4_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000512653.1_Frame_Shift_Ins_p.Q497fs|ABL2_ENST00000408940.3_Frame_Shift_Ins_p.Q476fs|ABL2_ENST00000392043.3_Frame_Shift_Ins_p.Q491fs|ABL2_ENST00000511413.1_Frame_Shift_Ins_p.Q512fs	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	512	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CATAAACCTTAGGGGGGCATCC	0.386			T	ETV6	AML								9	409	---	---	---	---					
TDRD5	163589	broad.mit.edu	37	1	179620101	179620102	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:179620101_179620102insT	ENST00000444136.1	+	12	2150_2151	c.1900_1901insT	c.(1900-1902)tttfs	p.F634fs	TDRD5_ENST00000294848.8_Frame_Shift_Ins_p.F634fs|TDRD5_ENST00000367614.1_Frame_Shift_Ins_p.F634fs	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	634					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AATCCTTAACATTTTTTTGTGT	0.411													9	540	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGATGCAGAGCCCCCCGAGAT	0.525													18	794	---	---	---	---					
LRRN2	10446	broad.mit.edu	37	1	204588926	204588927	+	Frame_Shift_Ins	INS	-	-	G	rs35463653	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:204588926_204588927insG	ENST00000367175.1	-	1	2406_2407	c.194_195insC	c.(193-195)cgcfs	p.R65fs	LRRN2_ENST00000367177.3_Frame_Shift_Ins_p.R65fs|LRRN2_ENST00000367176.3_Frame_Shift_Ins_p.R65fs			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	65	LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CGGGGAGTGCCGGGGGGACTGC	0.634													9	566	---	---	---	---					
LRRN2	10446	broad.mit.edu	37	1	204589028	204589029	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:204589028_204589029insG	ENST00000367175.1	-	1	2304_2305	c.92_93insC	c.(91-93)ccafs	p.P31fs	LRRN2_ENST00000367177.3_Frame_Shift_Ins_p.P31fs|LRRN2_ENST00000367176.3_Frame_Shift_Ins_p.P31fs|LRRN2_ENST00000496057.1_5'UTR			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	31	LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGCACACTGAGGGGGGCAGGG	0.649													7	281	---	---	---	---					
NFASC	23114	broad.mit.edu	37	1	204924032	204924033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:204924032_204924033insC	ENST00000367172.4	+	7	816_817	c.488_489insC	c.(487-489)accfs	p.T163fs	NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs			O94856	NFASC_HUMAN	neurofascin	163	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.P159fs*12(1)|p.P165fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAGTGCAACCCCCCGCCTG	0.559													15	1283	---	---	---	---					
RBBP5	5929	broad.mit.edu	37	1	205065949	205065950	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:205065949_205065950insG	ENST00000264515.6	-	12	1397_1398	c.1256_1257insC	c.(1255-1257)cccfs	p.P419fs	RBBP5_ENST00000367164.1_Frame_Shift_Ins_p.P419fs	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	419					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCATCCGGTGGGGGGCCGTA	0.505													10	1047	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													21	393	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208315786	208315787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:208315786_208315787insG	ENST00000367033.3	-	4	2150_2151	c.1393_1394insC	c.(1393-1395)tggfs	p.W465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GACCCCACCATGGGGGGGACCG	0.594													9	1295	---	---	---	---					
SERTAD4	56256	broad.mit.edu	37	1	210411418	210411419	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:210411418_210411419insC	ENST00000367012.3	+	2	343_344	c.113_114insC	c.(112-114)accfs	p.T38fs	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	38							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GGAGGCCCAAGCCCCCCAGGGC	0.619													8	739	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	215821895	215821896	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:215821895_215821896insG	ENST00000366943.2	-	66	14942_14943	c.14556_14557insC	c.(14554-14559)cctgttfs	p.V4853fs	USH2A_ENST00000307340.3_Frame_Shift_Ins_p.V4853fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4853	Fibronectin type-III 34.				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)		TTGGGGAACATGGGGGGACTCC	0.540										HNSCC(13;0.011)			8	507	---	---	---	---					
TRIM17	51127	broad.mit.edu	37	1	228596934	228596935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:228596934_228596935insG	ENST00000366697.2	-	5	1777_1778	c.821_822insC	c.(820-822)cacfs	p.H274fs	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	274					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGGGTCTGGTTGGGGGGGCAAC	0.579													17	545	---	---	---	---					
ACTA1	58	broad.mit.edu	37	1	229567546	229567547	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:229567546_229567547insC	ENST00000366684.3	-	6	1013_1014	c.911_912insG	c.(910-912)gacfs	p.D304fs	ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	304					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	ACATCGTGGTGCCCCCCGACAT	0.589													8	273	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													11	895	---	---	---	---					
MAP10	54627	broad.mit.edu	37	1	232940911	232940912	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr1:232940911_232940912insA	ENST00000418460.1	+	1	269_270	c.142_143insA	c.(142-144)aaafs	p.K48fs		NM_019090.2	NP_061963.2			microtubule-associated protein 10																		AACCATTACCCAAAAAACTCAC	0.371													7	980	---	---	---	---					
DNMT3A	1788	broad.mit.edu	37	2	25523008	25523009	+	Splice_Site	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:25523008_25523009insG	ENST00000264709.3	-	3	513_514	c.177_splice	c.e3+1	p.R59_splice	DNMT3A_ENST00000406659.3_Splice_Site_p.R59_splice|DNMT3A_ENST00000321117.5_Splice_Site_p.R59_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	59					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACTCACCGGGGGGTGCTT	0.649			"""Mis, F, N, S"""		AML								26	843	---	---	---	---					
GPR113	165082	broad.mit.edu	37	2	26534412	26534413	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:26534412_26534413insC	ENST00000333478.6	-	8	2168_2169	c.1586_1587insG	c.(1585-1587)gtgfs	p.V529fs	GPR113_ENST00000541401.1_Frame_Shift_Ins_p.V331fs|GPR113_ENST00000311519.1_Frame_Shift_Ins_p.V728fs|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Frame_Shift_Ins_p.V659fs	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	728					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G529fs*46(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTGGACCAACCCCCCCTGCC	0.614													21	587	---	---	---	---					
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:74480126_74480127insG	ENST00000394019.2	-	15	1639_1640	c.1242_1243insC	c.(1240-1245)ccagaafs	p.E415fs	SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000357822.5_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000346834.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000423644.1_Frame_Shift_Ins_p.E415fs|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	415						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCACCTTCTTGGGGGGCTCAA	0.475													16	940	---	---	---	---					
CNGA3	1261	broad.mit.edu	37	2	99012743	99012744	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:99012743_99012744insC	ENST00000393504.1	+	8	1527_1528	c.1110_1111insC	c.(1108-1113)ccccccfs	p.PP370fs	CNGA3_ENST00000409937.1_Frame_Shift_Ins_p.PP374fs|CNGA3_ENST00000272602.2_Frame_Shift_Ins_p.PP370fs|CNGA3_ENST00000436404.2_Frame_Shift_Ins_p.PP352fs	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	370					signal transduction|visual perception	integral to membrane	cGMP binding	p.V373fs*1(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTGAGACCCCACCCCCCGTGAA	0.515													7	451	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													10	366	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102644748	102644749	+	Frame_Shift_Ins	INS	-	-	G	rs145225100		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:102644748_102644749insG	ENST00000332549.3	+	9	1320_1321	c.1091_1092insG	c.(1090-1092)tggfs	p.W364fs	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.W364fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	364					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TTCTTGGTTTTGGGGGGAATAT	0.515													8	353	---	---	---	---					
AMMECR1L	83607	broad.mit.edu	37	2	128628473	128628474	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:128628473_128628474insG	ENST00000272647.5	-	5	807_808	c.547_548insC	c.(547-549)gacfs	p.D183fs	AMMECR1L_ENST00000393001.1_Frame_Shift_Ins_p.D183fs	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	183	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CTCTCGGGTCAGGGGGGGAAAT	0.540													21	498	---	---	---	---					
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:128774049_128774050insG	ENST00000357702.5	-	4	629_630	c.498_499insC	c.(496-501)ccaggtfs	p.G167fs	SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.530													8	451	---	---	---	---					
NR4A2	4929	broad.mit.edu	37	2	157186373	157186374	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:157186373_157186374insG	ENST00000339562.4	-	3	687_688	c.325_326insC	c.(325-327)gtcfs	p.V109fs	NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.V120fs|NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.V109fs|NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.V46fs|NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.V46fs|NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.V109fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	109	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Q109fs*3(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTCCTCAGACTGGGGGGGCAGG	0.604													18	246	---	---	---	---					
CSRNP3	80034	broad.mit.edu	37	2	166532949	166532950	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:166532949_166532950insA	ENST00000314499.7	+	6	912_913	c.536_537insA	c.(535-537)aaafs	p.K179fs	CSRNP3_ENST00000342316.4_Frame_Shift_Ins_p.K179fs|CSRNP3_ENST00000409420.1_Frame_Shift_Ins_p.K211fs	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	179					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CCTTTGCCAACAAAAAAACGAA	0.480													9	1205	---	---	---	---					
B3GALT1	8708	broad.mit.edu	37	2	168725850	168725851	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:168725850_168725851insG	ENST00000305861.1	+	2	652_653	c.301_302insG	c.(301-303)gggfs	p.G101fs	AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000392690.2_Frame_Shift_Ins_p.G101fs|AC016723.4_ENST00000436982.2_RNA	NM_020981.3	NP_066191.1	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	101					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.D103fs*10(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAGAGAGACGTGGGGGGATGAG	0.475													8	245	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				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						GCGCCTCCAATCCCCCCCACAT	0.465													11	223	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179594285	179594286	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:179594285_179594286insG	ENST00000589042.1	-	64	18821_18822	c.18597_18598insC	c.(18595-18600)ccccttfs	p.L6200fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Frame_Shift_Ins_p.L5883fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Frame_Shift_Ins_p.L4956fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5883	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGATAAAGGTGGGGGGTTCTA	0.460													8	901	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cctfs	p.P206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CGTCGGCAGGTGGGGGGGCATG	0.619													7	197	---	---	---	---					
FAM117B	150864	broad.mit.edu	37	2	203621968	203621969	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:203621968_203621969insC	ENST00000303116.6	+	6	1147_1148	c.405_406insC	c.(403-408)ccccccfs	p.PP135fs	FAM117B_ENST00000392238.2_Frame_Shift_Ins_p.PP379fs	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	379										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ATCGTGCTCCACCCCCCCTTGT	0.485													7	202	---	---	---	---					
ICOS	29851	broad.mit.edu	37	2	204820471	204820472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:204820471_204820472insG	ENST00000316386.6	+	2	238_239	c.171_172insG	c.(169-174)aaggggfs	p.KG57fs	ICOS_ENST00000435193.1_Frame_Shift_Ins_p.KG57fs	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	57	Ig-like V-type.				immune response|T cell costimulation	extracellular region		p.Q60fs*8(1)		breast(1)|large_intestine(1)|lung(4)	6						AGTTGCTGAAAGGGGGGCAAAT	0.386													7	361	---	---	---	---					
GPR1	2825	broad.mit.edu	37	2	207041591	207041592	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:207041591_207041592insA	ENST00000407325.2	-	3	742_743	c.380_381insT	c.(379-381)tctfs	p.S127fs	GPR1_ENST00000437420.1_Frame_Shift_Ins_p.S127fs	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	127						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TCACTGTCAGGAAAAAAACACT	0.455													9	735	---	---	---	---					
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:218940309_218940310insG	ENST00000374155.3	+	8	1564_1565	c.1154_1155insG	c.(1153-1155)tggfs	p.W385fs	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594													7	219	---	---	---	---					
GMPPA	29926	broad.mit.edu	37	2	220366589	220366590	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:220366589_220366590insC	ENST00000358215.3	+	5	628_629	c.259_260insC	c.(259-261)cccfs	p.P87fs	GMPPA_ENST00000341142.3_Frame_Shift_Ins_p.P87fs|GMPPA_ENST00000313597.5_Frame_Shift_Ins_p.P87fs|GMPPA_ENST00000373908.1_Frame_Shift_Ins_p.P87fs|GMPPA_ENST00000373917.3_Frame_Shift_Ins_p.P87fs|AC053503.11_ENST00000429882.1_RNA	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	87					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GCAGGAATTTGCCCCCCTAGGC	0.594													7	321	---	---	---	---					
ASIC4	55515	broad.mit.edu	37	2	220379872	220379873	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:220379872_220379873insC	ENST00000358078.4	+	1	821_822	c.807_808insC	c.(805-810)ctccccfs	p.LP269fs	ASIC4_ENST00000347842.3_Frame_Shift_Ins_p.LP269fs|AC053503.11_ENST00000429882.1_RNA			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	269						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TGACAGGGCTGCCCCCCAAAGA	0.639													8	307	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													29	587	---	---	---	---					
TADA3	10474	broad.mit.edu	37	3	9831566	9831567	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:9831566_9831567insG	ENST00000343450.2	-	3	835_836	c.288_289insC	c.(286-291)ccaacafs	p.T97fs	TADA3_ENST00000301964.2_Frame_Shift_Ins_p.T97fs|TADA3_ENST00000492635.1_5'UTR|TADA3_ENST00000440161.1_Frame_Shift_Ins_p.T97fs	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	97					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TTCCCATGTTTGGGGGGAGCTC	0.540													10	623	---	---	---	---					
CIDEC	63924	broad.mit.edu	37	3	9908868	9908869	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:9908868_9908869insG	ENST00000336832.2	-	6	805_806	c.666_667insC	c.(664-669)ccagggfs	p.G223fs	CIDEC_ENST00000455015.1_Frame_Shift_Ins_p.G149fs|CIDEC_ENST00000430427.1_Frame_Shift_Ins_p.G233fs|CIDEC_ENST00000383817.1_Frame_Shift_Ins_p.R107fs|CIDEC_ENST00000443115.1_Frame_Shift_Ins_p.R107fs|CIDEC_ENST00000423850.1_Frame_Shift_Ins_p.G149fs	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	223					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GCCTTGCCCTTGGGGGGCTGCC	0.604													7	641	---	---	---	---					
VHL	7428	broad.mit.edu	37	3	10188296	10188296	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:10188296delA	ENST00000256474.2	+	2	1279	c.439delA	c.(439-441)ttfs	p.I147fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	147	Involved in binding to CCT complex.		I -> T (in pheochromocytoma).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.I147fs*12(4)|p.A149fs*25(4)|p.I147fs*27(2)|p.I147fs*13(1)|p.I147fs*25(1)|p.I147fs*26(1)|p.I147_F148del(1)|p.P146fs*23(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGGACAGCCTATTTTTGCCAA	0.418		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				12	437	---	---	---	---					
TOP2B	7155	broad.mit.edu	37	3	25678721	25678721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:25678721delT	ENST00000435706.2	-	6	810	c.609delA	c.(607-609)aafs	p.K203fs	TOP2B_ENST00000264331.4_Frame_Shift_Del_p.K208fs			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	208					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TAAAACTGTGTTTGTATTCTT	0.308													2	4	---	---	---	---					
NKTR	4820	broad.mit.edu	37	3	42679486	42679486	+	Frame_Shift_Del	DEL	A	A	-	rs150528581	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:42679486delA	ENST00000232978.8	+	13	2478	c.2290delA	c.(2290-2292)aafs	p.K765fs	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	765	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ATCCAGTGGGAAAAAAAATAG	0.378													7	125	---	---	---	---					
COL7A1	1294	broad.mit.edu	37	3	48605038	48605039	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:48605038_48605039insC	ENST00000328333.8	-	108	8121_8122	c.8014_8015insG	c.(8014-8016)cccfs	p.P2672fs	COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.P2640fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2672	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTGCCAGGGGCCCCCGACTGG	0.639													7	105	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													8	130	---	---	---	---					
ADAMTS9	56999	broad.mit.edu	37	3	64532502	64532503	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:64532502_64532503insG	ENST00000498707.1	-	32	5337_5338	c.4995_4996insC	c.(4993-4998)ccgtgtfs	p.C1666fs	ADAMTS9_ENST00000295903.4_Frame_Shift_Ins_p.C1638fs	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1666	TSP type-1 14.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGGTGAACACTGGGGGGCTGCG	0.535													7	859	---	---	---	---					
PLCXD2	257068	broad.mit.edu	37	3	111394208	111394209	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:111394208_111394209insC	ENST00000393934.3	+	1	686_687	c.116_117insC	c.(115-117)cccfs	p.P39fs	PLCXD2_ENST00000477665.1_Frame_Shift_Ins_p.P39fs	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	39					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATGGCCTCGCTCCCCCCTCACC	0.545													7	415	---	---	---	---					
PLA1A	51365	broad.mit.edu	37	3	119328374	119328375	+	Frame_Shift_Ins	INS	-	-	G	rs57578038		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:119328374_119328375insG	ENST00000273371.4	+	4	585_586	c.513_514insG	c.(511-516)gtggggfs	p.VG171fs	PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000495992.1_Frame_Shift_Ins_p.VG155fs|PLA1A_ENST00000494440.1_Frame_Shift_Ins_p.VG155fs	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	171					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCCCACGTTGGGGGCATGGT	0.574													7	993	---	---	---	---					
LOC100507291	100507291	broad.mit.edu	37	3	139212981	139212982	+	RNA	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:139212981_139212982insC	ENST00000515247.1	+	0	317																											GATGACCAAGGCCCCCCCTTGT	0.530													16	258	---	---	---	---					
IGSF10	285313	broad.mit.edu	37	3	151155577	151155578	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:151155577_151155578insT	ENST00000282466.3	-	6	6770_6771	c.6771_6772insA	c.(6769-6774)aaacttfs	p.L2258fs	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2258	Ig-like C2-type 9.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGTCAAAGTGTTTTTTGGAAT	0.416													15	1430	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)catfs	p.H253fs	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTAGGATGGCCCCCCGCAAG	0.515													9	577	---	---	---	---					
HTR3C	170572	broad.mit.edu	37	3	183777416	183777417	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:183777416_183777417insC	ENST00000318351.1	+	7	947_948	c.913_914insC	c.(913-915)cccfs	p.P305fs		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	305						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGCCAGTGGCACCCCCCTCATC	0.584													8	1188	---	---	---	---					
PSMD2	5708	broad.mit.edu	37	3	184026622	184026623	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:184026622_184026623insC	ENST00000310118.4	+	21	3229_3230	c.2671_2672insC	c.(2671-2673)cccfs	p.P891fs	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Frame_Shift_Ins_p.P732fs|PSMD2_ENST00000439383.1_Frame_Shift_Ins_p.P761fs	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	891					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TCTTCCTGTTACCCCCATTCTG	0.520											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	2055	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195397992	195397993	+	RNA	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr3:195397992_195397993insT	ENST00000445430.1	+	0	919																											TAAATGTGTGGTTTTTTGCAGG	0.391													10	1549	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-684)gccfs	p.A228fs	FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525													14	691	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)agafs	p.R491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505													13	421	---	---	---	---					
PCDH10	57575	broad.mit.edu	37	4	134071648	134071649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr4:134071648_134071649insC	ENST00000264360.4	+	1	1179_1180	c.353_354insC	c.(352-354)accfs	p.T118fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	118	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S121fs*13(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTAATGACAACCCCCCCTCTT	0.604													7	155	---	---	---	---					
PLEKHG4B	153478	broad.mit.edu	37	5	163105	163106	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:163105_163106insC	ENST00000283426.6	+	11	1900_1901	c.1850_1851insC	c.(1849-1851)accfs	p.T617fs		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	617					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTTGCCCAGAGCCCCCCAAAGC	0.668													2	4	---	---	---	---					
MYO10	4651	broad.mit.edu	37	5	16694605	16694606	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:16694605_16694606insC	ENST00000513610.1	-	27	4128_4129	c.3674_3675insG	c.(3673-3675)gtcfs	p.V1225fs	MYO10_ENST00000505695.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000274203.9_Frame_Shift_Ins_p.V582fs|MYO10_ENST00000515803.1_Frame_Shift_Ins_p.V564fs|MYO10_ENST00000427430.2_Frame_Shift_Ins_p.V582fs	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1225	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.S1226fs*25(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCGTGGAGGAGCCCCCCCCTTT	0.564													19	233	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:31799656_31799657insG	ENST00000438447.1	+	2	689_690	c.301_302insG	c.(301-303)gggfs	p.G101fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.G101fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	101	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAAAGCGCAGGGGGGGCAAG	0.574													10	230	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													9	444	---	---	---	---					
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:38407191_38407192insG	ENST00000322350.5	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)gggfs	p.G364fs	EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545													7	157	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.500													14	561	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:41181559_41181560insC	ENST00000263413.3	-	7	1092_1093	c.828_829insG	c.(826-831)gggctcfs	p.L277fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	277	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGAAAGAGCTCCCCCCCTGAC	0.376													11	148	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													15	300	---	---	---	---					
ENC1	8507	broad.mit.edu	37	5	73931125	73931126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:73931125_73931126insC	ENST00000302351.4	-	2	2315_2316	c.1185_1186insG	c.(1183-1188)ggacacfs	p.H396fs	ENC1_ENST00000537006.1_Frame_Shift_Ins_p.H396fs|ENC1_ENST00000510316.1_Frame_Shift_Ins_p.H323fs	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	396					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GCGGCCGTGTGCCCCCCAACCA	0.599													9	403	---	---	---	---					
EDIL3	10085	broad.mit.edu	37	5	83360606	83360607	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:83360606_83360607insG	ENST00000296591.5	-	8	1282_1283	c.864_865insC	c.(862-867)cctaaafs	p.K289fs	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Frame_Shift_Ins_p.K279fs	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	289	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGAGCTTTTATGGGGGGTGTGA	0.391													7	1075	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													10	146	---	---	---	---					
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)cccfs	p.P280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	1855	---	---	---	---					
KDM3B	51780	broad.mit.edu	37	5	137727193	137727194	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:137727193_137727194insC	ENST00000314358.5	+	8	2072_2073	c.1872_1873insC	c.(1870-1875)caccccfs	p.HP624fs	KDM3B_ENST00000394866.1_Frame_Shift_Ins_p.HP280fs|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	624					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TATTTTTACAGCCCCCCAAATT	0.505													8	311	---	---	---	---					
PCDHGC4	56098	broad.mit.edu	37	5	140865128	140865129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:140865128_140865129insC	ENST00000306593.1	+	1	388_389	c.388_389insC	c.(388-390)cccfs	p.P130fs	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGATCACGCCCCCCGTTTT	0.574													7	355	---	---	---	---					
FCHSD1	89848	broad.mit.edu	37	5	141024642	141024643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:141024642_141024643insG	ENST00000435817.2	-	14	1434_1435	c.1384_1385insC	c.(1384-1386)agcfs	p.S462fs	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.S388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.S386fs	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	462									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAGGGCTTGGGGGGCAGGC	0.589													8	206	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													23	877	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)cccfs	p.P743fs	ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs|ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGTCAGTGGGTGGGGGGCTCAC	0.564													11	919	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													19	469	---	---	---	---					
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs144353509		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:141694153_141694154insG	ENST00000344120.4	-	3	775_776	c.589_590insC	c.(589-591)gacfs	p.D197fs	SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGCA	0.609									Testicular Cancer, Familial Clustering of				10	620	---	---	---	---					
LARS	51520	broad.mit.edu	37	5	145547778	145547779	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:145547778_145547779insG	ENST00000394434.2	-	5	510_511	c.344_345insC	c.(343-345)cgafs	p.R115fs	LARS_ENST00000545646.1_Intron|LARS_ENST00000274562.9_Frame_Shift_Ins_p.R88fs|LARS_ENST00000510191.1_Frame_Shift_Ins_p.R61fs|LARS_ENST00000511505.1_Intron	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	115					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTGGAAAATCAGGGGGGCAACC	0.347													8	264	---	---	---	---					
PPARGC1B	133522	broad.mit.edu	37	5	149212764	149212765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:149212764_149212765insC	ENST00000309241.5	+	5	1160_1161	c.1128_1129insC	c.(1126-1131)agccccfs	p.SP376fs	PPARGC1B_ENST00000360453.4_Frame_Shift_Ins_p.SP337fs|PPARGC1B_ENST00000394320.3_Frame_Shift_Ins_p.SP376fs|PPARGC1B_ENST00000403750.1_Frame_Shift_Ins_p.SP312fs	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	376					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAAGGCCCAGGCCCCCCAAAGA	0.629													11	816	---	---	---	---					
SLC6A7	6534	broad.mit.edu	37	5	149580754	149580755	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:149580754_149580755insC	ENST00000230671.2	+	6	1197_1198	c.826_827insC	c.(826-828)cccfs	p.P276fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.P276fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	276						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTTCTATCTCACCCCCCAGTTC	0.634													9	713	---	---	---	---					
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(907-912)ttggggfs	p.LG303fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	303						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569													11	926	---	---	---	---					
TCOF1	6949	broad.mit.edu	37	5	149755743	149755744	+	Frame_Shift_Ins	INS	-	-	C	rs2071240	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:149755743_149755744insC	ENST00000451292.1	+	13	2100_2101	c.1992_1993insC	c.(1990-1995)caccccfs	p.HP664fs	TCOF1_ENST00000504761.2_Frame_Shift_Ins_p.HP664fs|TCOF1_ENST00000394269.3_Frame_Shift_Ins_p.HP664fs|TCOF1_ENST00000445265.2_Frame_Shift_Ins_p.HP587fs|TCOF1_ENST00000513346.1_Frame_Shift_Ins_p.HP664fs|TCOF1_ENST00000323668.7_Frame_Shift_Ins_p.HP587fs|TCOF1_ENST00000377797.3_Frame_Shift_Ins_p.HP664fs|TCOF1_ENST00000439160.2_Frame_Shift_Ins_p.HP664fs			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	664					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGCACCCAAGCCCCCCGGAA	0.584													10	497	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1738-1743)ccggggfs	p.PG580fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	657							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCGGCACCCAGGGGGGGACCG	0.550													11	1356	---	---	---	---					
ADAM19	8728	broad.mit.edu	37	5	156946934	156946935	+	Frame_Shift_Ins	INS	-	-	G	rs141344301		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:156946934_156946935insG	ENST00000257527.4	-	6	590_591	c.512_513insC	c.(511-513)cggfs	p.R171fs	ADAM19_ENST00000517905.1_Frame_Shift_Ins_p.R171fs|ADAM19_ENST00000394020.1_Frame_Shift_Ins_p.R173fs|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	171					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACAGTTTCCCGGGGGCGGCTT	0.559													8	673	---	---	---	---					
SLIT3	6586	broad.mit.edu	37	5	168250317	168250319	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:168250317_168250319delTGT	ENST00000519560.1	-	7	994_996	c.575_577delACA	c.(574-579)atc>a	p.NI192del	SLIT3_ENST00000404867.3_In_Frame_Del_p.NI192del|SLIT3_ENST00000332966.8_In_Frame_Del_p.NI192del	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	192					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGCGACTGATGTTGTTGTTGTT	0.537													7	1718	---	---	---	---					
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)ccagatfs	p.D274fs	KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	274							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579													9	580	---	---	---	---					
TRIM7	81786	broad.mit.edu	37	5	180630518	180630519	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr5:180630518_180630519insG	ENST00000334421.5	-	2	826_827	c.644_645insC	c.(643-645)ctgfs	p.L215fs	TRIM7_ENST00000422067.2_5'UTR|TRIM7_ENST00000393315.1_Intron|TRIM7_ENST00000361809.3_Intron|TRIM7_ENST00000274773.7_Intron	NM_033342.2	NP_203128.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	0						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TAATGTCCCACGGGGGGCCTGC	0.559													10	597	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(307-312)ctccccfs	p.LP103fs	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	237						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584													15	514	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													7	235	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30573780	30573780	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:30573780delG	ENST00000376511.2	-	10	1325	c.773delC	c.(772-774)ctfs	p.P258fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	258	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CTTCTCTGCAGGGGGAGTGGC	0.522													9	2090	---	---	---	---					
HLA-B	3106	broad.mit.edu	37	6	31323362	31323363	+	Frame_Shift_Ins	INS	-	-	G	rs77061046		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:31323362_31323363insG	ENST00000412585.2	-	4	654_655	c.626_627insC	c.(625-627)caafs	p.Q209fs		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CGTGTGTCTTTGGGGGGTCTGA	0.579									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				9	321	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31617054	31617055	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:31617054_31617055insG	ENST00000404765.2	-	4	633_634	c.344_345insC	c.(343-345)cggfs	p.R115fs	BAG6_ENST00000439687.2_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.R115fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.R115fs			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	115					apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.P115fs*53(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCCGAGTACCAGGGGGGGATCC	0.594													7	521	---	---	---	---					
ZBTB22	9278	broad.mit.edu	37	6	33283579	33283580	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:33283579_33283580insC	ENST00000431845.2	-	2	1265_1266	c.1114_1115insG	c.(1114-1116)ggafs	p.G372fs	ZBTB22_ENST00000418724.1_Frame_Shift_Ins_p.G372fs	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GACCTGCTCCTCCCCCTTGTCT	0.599													7	672	---	---	---	---					
PHF1	5252	broad.mit.edu	37	6	33383636	33383637	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:33383636_33383637insC	ENST00000374516.3	+	15	1736_1737	c.1465_1466insC	c.(1465-1467)cccfs	p.P489fs	PHF1_ENST00000374512.3_Frame_Shift_Ins_p.VP453fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	489					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A489V(1)|p.H491fs*3(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCTAAAAGTGCCCCCCACTCG	0.530													8	623	---	---	---	---					
ZBTB9	221504	broad.mit.edu	37	6	33423711	33423712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:33423711_33423712insC	ENST00000395064.2	+	2	1102_1103	c.834_835insC	c.(832-837)ctccccfs	p.LP278fs		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	278	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CTCCTGCACTGCCCCCCAAAAT	0.564													8	398	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)cccfs	p.P308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.540			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	384	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42237200	42237201	+	Frame_Shift_Ins	INS	-	-	C	rs138805200	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:42237200_42237201insC	ENST00000541110.1	-	5	696_697	c.128_129insG	c.(127-129)gggfs	p.G43fs	TRERF1_ENST00000372922.4_Frame_Shift_Ins_p.G43fs|TRERF1_ENST00000372917.4_Frame_Shift_Ins_p.G43fs|TRERF1_ENST00000354325.2_Frame_Shift_Ins_p.G43fs|TRERF1_ENST00000340840.2_Frame_Shift_Ins_p.G43fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	43					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATCCATTCCGCCCCCTGTAAC	0.564													8	344	---	---	---	---					
DLK2	65989	broad.mit.edu	37	6	43418590	43418591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:43418590_43418591insG	ENST00000357338.3	-	6	1538_1539	c.838_839insC	c.(838-840)cagfs	p.Q280fs	DLK2_ENST00000414245.1_Frame_Shift_Ins_p.Q274fs|DLK2_ENST00000372485.1_Frame_Shift_Ins_p.Q274fs|DLK2_ENST00000372488.3_Frame_Shift_Ins_p.Q280fs	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	280						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCCTGCGCTGTGGGGGGCTGGC	0.644													9	353	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													14	427	---	---	---	---					
MDN1	23195	broad.mit.edu	37	6	90372572	90372574	+	In_Frame_Del	DEL	TCA	TCA	-	rs36040566	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:90372572_90372574delTCA	ENST00000369393.3	-	86	14464_14466	c.14349_14351delTGA	c.(14347-14352)gag>ga	p.DE4783del	MDN1_ENST00000428876.1_In_Frame_Del_p.DE4783del			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4783			D -> E (in dbSNP:rs36040566).		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)		atcttcctcctcatcATCATCAC	0.458													7	1728	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													20	516	---	---	---	---					
IPCEF1	26034	broad.mit.edu	37	6	154481012	154481013	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr6:154481012_154481013insG	ENST00000265198.4	-	12	1419_1420	c.1264_1265insC	c.(1264-1266)ggafs	p.G422fs	IPCEF1_ENST00000367220.4_Frame_Shift_Ins_p.G423fs|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Frame_Shift_Ins_p.G423fs|IPCEF1_ENST00000519344.1_Frame_Shift_Ins_p.G394fs	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						CTTGAGTTCCTGGGGGGTGTCA	0.460													7	424	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2404085	2404086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:2404085_2404086insG	ENST00000360876.4	+	6	1134_1135	c.1078_1079insG	c.(1078-1080)gggfs	p.G360fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	360	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATTGCTCTATGGGGGGGAGAG	0.475													10	275	---	---	---	---					
ABCB5	340273	broad.mit.edu	37	7	20785034	20785034	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:20785034delC	ENST00000404938.2	+	26	4054	c.3402delC	c.(3400-3402)atfs	p.I1134fs	ABCB5_ENST00000258738.6_Frame_Shift_Del_p.I689fs	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	689					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGCAAATATCCATTCTTTTA	0.428													26	392	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													12	288	---	---	---	---					
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(571-576)gtccccfs	p.VP191fs	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs|GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	191					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAGGACCGTGCCCCCCGACTT	0.564													12	479	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								11	124	---	---	---	---					
LAMB1	3912	broad.mit.edu	37	7	107613473	107613473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:107613473delG	ENST00000393561.1	-	11	1782	c.1598delC	c.(1597-1599)cafs	p.P533fs	LAMB1_ENST00000222399.6_Frame_Shift_Del_p.P509fs|LAMB1_ENST00000393560.1_Frame_Shift_Del_p.P509fs			P07942	LAMB1_HUMAN	laminin, beta 1	509	Laminin EGF-like 5; truncated.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAGTCACATGGTCGACATCC	0.453													11	542	---	---	---	---					
GRM8	2918	broad.mit.edu	37	7	126173277	126173278	+	Frame_Shift_Ins	INS	-	-	G	rs77499554		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:126173277_126173278insG	ENST00000339582.2	-	9	2966_2967	c.2158_2159insC	c.(2158-2160)catfs	p.H720fs	GRM8_ENST00000444921.2_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Frame_Shift_Ins_p.H720fs			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	720					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AATGATGATGTGGGGGGGATCC	0.505										HNSCC(24;0.065)			14	140	---	---	---	---					
AKR1B1	231	broad.mit.edu	37	7	134133160	134133161	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:134133160_134133161insG	ENST00000285930.4	-	6	716_717	c.637_638insC	c.(637-639)cggfs	p.R213fs		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	213					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	AGGAGAGCCGAGGGGGCTGTAG	0.505													15	2635	---	---	---	---					
KIAA1549	57670	broad.mit.edu	37	7	138603455	138603456	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:138603455_138603456insC	ENST00000440172.1	-	2	964_965	c.916_917insG	c.(916-918)ggtfs	p.G306fs	KIAA1549_ENST00000242365.4_Frame_Shift_Ins_p.G256fs|KIAA1549_ENST00000422774.1_Frame_Shift_Ins_p.G306fs	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	306						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGTGAGACCTCCCCCAAGGAG	0.520			O	BRAF	pilocytic astrocytoma								7	600	---	---	---	---					
ADCK2	90956	broad.mit.edu	37	7	140394593	140394594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:140394593_140394594insC	ENST00000072869.4	+	8	2049_2050	c.1871_1872insC	c.(1870-1872)tccfs	p.S624fs	NDUFB2_ENST00000482954.1_Intron|ADCK2_ENST00000476491.1_Intron	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	624						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GGCCCAGTGTGCCCCCCGTGAT	0.619													13	972	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													8	879	---	---	---	---					
TMEM139	135932	broad.mit.edu	37	7	142983604	142983605	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:142983604_142983605insC	ENST00000359333.3	+	3	846_847	c.333_334insC	c.(331-336)ccccccfs	p.PP111fs	TMEM139_ENST00000409102.1_Frame_Shift_Ins_p.PP111fs|TMEM139_ENST00000409244.1_Frame_Shift_Ins_p.PP111fs|TMEM139_ENST00000410004.1_Frame_Shift_Ins_p.PP111fs|AC073342.12_ENST00000427392.1_RNA|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409541.1_Frame_Shift_Ins_p.PP111fs	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	111						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					TGGACCAACCACCCCCCTACAG	0.574													8	334	---	---	---	---					
ZNF398	57541	broad.mit.edu	37	7	148876152	148876153	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:148876152_148876153insC	ENST00000420008.2	+	6	1463_1464	c.675_676insC	c.(673-678)acccccfs	p.TP225fs	ZNF398_ENST00000426851.2_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000491174.1_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000475153.1_Frame_Shift_Ins_p.TP396fs|ZNF398_ENST00000540950.1_Frame_Shift_Ins_p.TP401fs|ZNF398_ENST00000483892.1_Frame_Shift_Ins_p.TP225fs|ZNF398_ENST00000335901.4_Frame_Shift_Ins_p.TP225fs	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	396					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CCAGCGAGACACCCCCCACCTG	0.589													17	830	---	---	---	---					
AGAP3	116988	broad.mit.edu	37	7	150814456	150814457	+	Splice_Site	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr7:150814456_150814457insG	ENST00000397238.2	+	4	478		c.e4-1		AGAP3_ENST00000463381.1_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3						regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTCTGTCCTAGGGGGGCGGTT	0.579													8	280	---	---	---	---					
XKR6	286046	broad.mit.edu	37	8	10755815	10755816	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:10755815_10755816insG	ENST00000416569.2	-	3	1598_1599	c.1572_1573insC	c.(1570-1575)ccatgtfs	p.C525fs	XKR6_ENST00000304437.2_Frame_Shift_Ins_p.C246fs	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	525						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GGCTCAACATCGGGGGGCAAAG	0.609													8	270	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													8	451	---	---	---	---					
SLC18A1	6570	broad.mit.edu	37	8	20004787	20004788	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:20004787_20004788insG	ENST00000440926.1	-	16	1915_1916	c.1445_1446insC	c.(1444-1446)cgcfs	p.R482fs	SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000437980.1_Intron	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	482					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CTTCCTTTGCCGGGGGGCTCCG	0.500													11	448	---	---	---	---					
DMTN	2039	broad.mit.edu	37	8	21926551	21926552	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:21926551_21926552insC	ENST00000358242.3	+	5	767_768	c.274_275insC	c.(274-276)cccfs	p.P92fs	DMTN_ENST00000443491.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000432128.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000523782.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000265800.5_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000415253.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000519907.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000523266.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000381470.3_Frame_Shift_Ins_p.P92fs					dematin actin binding protein																		CAAATCCACATCCCCCCCACCA	0.604													9	295	---	---	---	---					
FBXO16	157574	broad.mit.edu	37	8	28340937	28340938	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:28340937_28340938insT	ENST00000380254.2	-	2	174_175	c.26_27insA	c.(25-27)aacfs	p.N9fs	FBXO16_ENST00000346498.2_Frame_Shift_Ins_p.N9fs|FBXO16_ENST00000517436.1_Intron|FBXO16_ENST00000519471.2_Frame_Shift_Ins_p.N9fs|FBXO16_ENST00000518734.1_Frame_Shift_Ins_p.N9fs	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	9										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GACCATCTGTGTTTTTTGGAGG	0.396													11	1171	---	---	---	---					
INTS9	55756	broad.mit.edu	37	8	28633353	28633354	+	Frame_Shift_Ins	INS	-	-	G	rs148560235		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:28633353_28633354insG	ENST00000416984.2	-	13	1781_1782	c.1422_1423insC	c.(1420-1425)ccccatfs	p.H475fs	INTS9_ENST00000397363.4_Frame_Shift_Ins_p.H390fs|INTS9_ENST00000521777.1_Frame_Shift_Ins_p.H472fs|INTS9_ENST00000521022.1_Frame_Shift_Ins_p.H496fs	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	496					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TAGGACATGGCGGGGGGCTGGC	0.619													9	363	---	---	---	---					
TEX15	56154	broad.mit.edu	37	8	30695260	30695261	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:30695260_30695261insT	ENST00000256246.2	-	3	7464_7465	c.7390_7391insA	c.(7390-7392)tgtfs	p.C2464fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2464										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCCATGTACACTTTTTTGGTCA	0.361													11	860	---	---	---	---					
GOT1L1	137362	broad.mit.edu	37	8	37793280	37793281	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:37793280_37793281insG	ENST00000307599.4	-	7	969_970	c.870_871insC	c.(868-873)ccacacfs	p.H291fs	GOT1L1_ENST00000518826.1_Frame_Shift_Ins_p.H32fs	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	291					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCACCCGTGTTGGGGGGGTTTA	0.609													13	250	---	---	---	---					
POTEA	340441	broad.mit.edu	37	8	43211888	43211889	+	RNA	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:43211888_43211889insC	ENST00000522175.2	+	0	1224							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCACCTTGTTTCCCCCCGATGC	0.381													8	117	---	---	---	---					
PXDNL	137902	broad.mit.edu	37	8	52359602	52359603	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:52359602_52359603insC	ENST00000356297.4	-	12	1586_1587	c.1486_1487insG	c.(1486-1488)gaafs	p.E496fs	PXDNL_ENST00000543296.1_Frame_Shift_Ins_p.E496fs	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	496	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACCTTTTTCACCCCCAACGAA	0.450													8	931	---	---	---	---					
ZFHX4	79776	broad.mit.edu	37	8	77617546	77617547	+	Frame_Shift_Ins	INS	-	-	G	rs13252403		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:77617546_77617547insG	ENST00000521891.2	+	2	1671_1672	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	ZFHX4_ENST00000050961.6_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Frame_Shift_Ins_p.R408fs|ZFHX4_ENST00000518282.1_Frame_Shift_Ins_p.R408fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	408						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)			17	187	---	---	---	---					
MIR1208	100302281	broad.mit.edu	37	8	129162432	129162433	+	RNA	INS	-	-	G	rs2648841	by1000genomes	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:129162432_129162433insG	ENST00000408334.1	+	0	71_72					NR_031613.1																						ACCACTGTGGTGGGGGGGAGTG	0.564													13	258	---	---	---	---					
ASAP1	50807	broad.mit.edu	37	8	131073124	131073125	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:131073124_131073125insG	ENST00000357668.1	-	27	2919_2920	c.2892_2893insC	c.(2890-2895)ccaaccfs	p.T965fs	ASAP1_ENST00000518721.1_Frame_Shift_Ins_p.T965fs			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	965	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGCTGTGGTTTGGGGGGCAGTT	0.599													9	484	---	---	---	---					
MROH5	389690	broad.mit.edu	37	8	142477454	142477463	+	RNA	DEL	CCTGGCCCTT	CCTGGCCCTT	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr8:142477454_142477463delCCTGGCCCTT	ENST00000430863.1	-	0	2403					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CCCTCCGCCCcctggcccttcctggccctt	0.671													7	10	---	---	---	---					
TEK	7010	broad.mit.edu	37	9	27204925	27204926	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:27204925_27204926insG	ENST00000380036.4	+	14	2668_2669	c.2226_2227insG	c.(2224-2229)ggggggfs	p.GG742fs	TEK_ENST00000519097.1_Frame_Shift_Ins_p.GG595fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.GG699fs	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	742					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CGGACCTCGGAGGGGGGAAGAT	0.510													7	501	---	---	---	---					
TLE1	7088	broad.mit.edu	37	9	84208131	84208132	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:84208131_84208132insG	ENST00000376499.3	-	15	2453_2454	c.1389_1390insC	c.(1387-1392)ccacgcfs	p.R464fs		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	464				DA -> TP (in Ref. 1; AAA61192).	negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ATGAGGGCGTCGGGGGGAAAAG	0.564													8	166	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:95649123_95649124insC	ENST00000473204.1	+	0	2259																											GCAATCTAGCACCCCCCAAAAG	0.540													14	287	---	---	---	---					
CCDC180	100499483	broad.mit.edu	37	9	100082417	100082418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:100082417_100082418insC	ENST00000375202.2	+	25	2573_2574	c.1221_1222insC	c.(1219-1224)ctccccfs	p.LP407fs	CCDC180_ENST00000529487.1_Frame_Shift_Ins_p.LP407fs|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Frame_Shift_Ins_p.LP506fs|CCDC180_ENST00000357054.1_Frame_Shift_Ins_p.LP546fs|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Frame_Shift_Ins_p.LP404fs					coiled-coil domain containing 180																		GTGACCTCCTGCCCCCCAGTTA	0.505													8	590	---	---	---	---					
CORO2A	7464	broad.mit.edu	37	9	100888849	100888850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:100888849_100888850insG	ENST00000343933.5	-	11	1684_1685	c.1427_1428insC	c.(1426-1428)cccfs	p.P476fs	CORO2A_ENST00000375077.4_Frame_Shift_Ins_p.P476fs	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	476					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTGTCTTTGGTGGGGGGCATTC	0.559													8	555	---	---	---	---					
PAPPA	5069	broad.mit.edu	37	9	118982329	118982330	+	Frame_Shift_Ins	INS	-	-	C	rs34371232	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:118982329_118982330insC	ENST00000328252.3	+	5	2401_2402	c.2032_2033insC	c.(2032-2034)cccfs	p.P678fs	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	678					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTTGCCCTCGCCCCCCAAGTT	0.574													31	1217	---	---	---	---					
SPTAN1	6709	broad.mit.edu	37	9	131370516	131370517	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:131370516_131370517insA	ENST00000358161.5	+	34	4565_4566	c.4452_4453insA	c.(4450-4455)ataaaafs	p.IK1484fs	SPTAN1_ENST00000372731.4_Frame_Shift_Ins_p.IK1484fs|SPTAN1_ENST00000372739.3_Frame_Shift_Ins_p.IK1484fs			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1484					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGCTCTGATCAAAAAACATGA	0.495													7	851	---	---	---	---					
CEL	1056	broad.mit.edu	37	9	135941981	135941982	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr9:135941981_135941982insG	ENST00000372080.4	+	5	628_629	c.612_613insG	c.(610-615)ttggggfs	p.LG204fs	CEL_ENST00000351304.7_Frame_Shift_Ins_p.LG201fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	201					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCGCGGCCTTCGGGGGGGACCC	0.639													8	303	---	---	---	---					
TUBAL3	79861	broad.mit.edu	37	10	5442908	5442909	+	Frame_Shift_Ins	INS	-	-	T	rs34911632		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:5442908_5442909insT	ENST00000380419.3	-	2	182_183	c.145_146insA	c.(145-147)ggafs	p.G49fs	TUBAL3_ENST00000479328.1_Frame_Shift_Ins_p.G9fs	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	49					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TGTGTGCTCCATTTTTGCATTT	0.480													9	1818	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8006928	8006929	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:8006928_8006929insC	ENST00000344293.5	+	3	1661_1662	c.1455_1456insC	c.(1453-1458)atccccfs	p.IP485fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	485					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCAAATATGCCCCCCAACTT	0.490													7	176	---	---	---	---					
NUDT5	11164	broad.mit.edu	37	10	12219814	12219815	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:12219814_12219815insC	ENST00000491614.1	-	5	661_662	c.266_267insG	c.(265-267)gtafs	p.V89fs	NUDT5_ENST00000378940.3_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000537776.1_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Frame_Shift_Ins_p.V102fs|NUDT5_ENST00000378927.3_Frame_Shift_Ins_p.V89fs			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	89	Nudix hydrolase.				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CTATGCAGTAGCCCCCCATTGG	0.520													9	1435	---	---	---	---					
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:13696451_13696452insG	ENST00000357447.2	-	23	3382_3383	c.3014_3015insC	c.(3013-3015)cagfs	p.Q1005fs	FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs|FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535													12	322	---	---	---	---					
GPR158	57512	broad.mit.edu	37	10	25887424	25887425	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:25887424_25887425insC	ENST00000376351.3	+	11	3228_3229	c.2869_2870insC	c.(2869-2871)cccfs	p.P957fs	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	957						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TAAAGATCCTGCCCCCCAAAAC	0.446													7	179	---	---	---	---					
PARD3	56288	broad.mit.edu	37	10	34400165	34400166	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:34400165_34400166insG	ENST00000374789.3	-	25	4327_4328	c.4002_4003insC	c.(4000-4005)ccccccfs	p.PP1334fs	PARD3_ENST00000374790.3_Frame_Shift_Ins_p.PP1274fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.PP1318fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.PP1297fs|PARD3_ENST00000374794.3_Frame_Shift_Ins_p.PP1222fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.PP1244fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.PP1288fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.PP1331fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1334					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGAGAAGGGGAGGGGGGCACAT	0.579													7	559	---	---	---	---					
FAM21EP	100421577	broad.mit.edu	37	10	51821327	51821328	+	RNA	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:51821327_51821328insG	ENST00000456967.1	-	0	1306_1307					NR_038275.1																						TCGGTCAGCTTGGGGGGTGCGA	0.520													8	370	---	---	---	---					
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:85972096_85972097insC	ENST00000372117.3	+	15	1818_1819	c.1715_1716insC	c.(1714-1716)cccfs	p.P572fs	CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs|CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	572	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GTCAATGACCACCCCCCTCAGT	0.510													8	655	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)ccaatgfs	p.M382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.490													15	1920	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	591					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431													16	328	---	---	---	---					
PSD	5662	broad.mit.edu	37	10	104176573	104176574	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr10:104176573_104176574insG	ENST00000020673.5	-	2	748_749	c.222_223insC	c.(220-225)cccaccfs	p.T75fs	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Frame_Shift_Ins_p.T75fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	75	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	p.S75fs*127(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACACGGGGTGAGGGGGGGCCAC	0.668													7	64	---	---	---	---					
CARS	833	broad.mit.edu	37	11	3023250	3023251	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:3023250_3023251insG	ENST00000397114.3	-	22	2407_2408	c.2031_2032insC	c.(2029-2034)ccgtgafs	p.*678fs	CARS_ENST00000397111.5_Frame_Shift_Ins_p.*688fs|CARS_ENST00000278224.9_Frame_Shift_Ins_p.*688fs|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000380525.4_Frame_Shift_Ins_p.*771fs|CARS_ENST00000401769.3_Frame_Shift_Ins_p.*701fs			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	688					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	AACATCTCACTGGGGGGAATCT	0.495			T	ALK	ALCL								18	786	---	---	---	---					
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:4409705delT	ENST00000254436.7	-	4	672	c.560delA	c.(559-561)acfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483													8	624	---	---	---	---					
OR56B1	387748	broad.mit.edu	37	11	5758618	5758619	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:5758618_5758619insC	ENST00000317121.3	+	1	938_939	c.872_873insC	c.(871-873)accfs	p.T291fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CACAACATCATCCCCCCTTCCC	0.406													7	1506	---	---	---	---					
CYB5R2	51700	broad.mit.edu	37	11	7689747	7689748	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:7689747_7689748insT	ENST00000533558.1	-	6	989_990	c.433_434insA	c.(433-435)actfs	p.T145fs	CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.T145fs|CYB5R2_ENST00000528585.1_5'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	145					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATCGGCCAGTGTTTTTTTAGGC	0.520													10	1810	---	---	---	---					
SCUBE2	57758	broad.mit.edu	37	11	9048995	9048996	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:9048995_9048996insG	ENST00000457346.2	-	20	2690_2691	c.2616_2617insC	c.(2614-2619)ccagcgfs	p.A873fs	SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000309263.3_Frame_Shift_Ins_p.A844fs|SCUBE2_ENST00000520467.1_Frame_Shift_Ins_p.A816fs|RP11-467K18.2_ENST00000531592.1_RNA			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	844	CUB.					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATGCGGCGCTTGGGGGGTGGGT	0.569													7	235	---	---	---	---					
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)ccgcgafs	p.R788fs	EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs|EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	788	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.S788R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTCATCGCTGGGGGGGTTTA	0.406													8	97	---	---	---	---					
HPS5	11234	broad.mit.edu	37	11	18303689	18303690	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:18303689_18303690insG	ENST00000396253.3	-	21	3256_3257	c.2794_2795insC	c.(2794-2796)ggafs	p.G932fs	HPS5_ENST00000349215.3_Frame_Shift_Ins_p.G1046fs|HPS5_ENST00000537258.1_Frame_Shift_Ins_p.G153fs|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Frame_Shift_Ins_p.G932fs	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1046						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGTGACTCCTGGGGGGCTGGC	0.554									Hermansky-Pudlak syndrome				11	793	---	---	---	---					
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:31812316_31812317insG	ENST00000419022.1	-	13	1634_1635	c.1166_1167insC	c.(1165-1167)ccafs	p.P389fs	PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				7	148	---	---	---	---					
GYLTL1B	120071	broad.mit.edu	37	11	45948372	45948373	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:45948372_45948373insC	ENST00000531526.1	+	10	1386_1387	c.1275_1276insC	c.(1273-1278)ccccccfs	p.PP425fs	GYLTL1B_ENST00000529052.1_Frame_Shift_Ins_p.PP394fs|GYLTL1B_ENST00000389968.3_Frame_Shift_Ins_p.PP152fs|GYLTL1B_ENST00000401752.1_Frame_Shift_Ins_p.PP425fs|GYLTL1B_ENST00000325468.5_Frame_Shift_Ins_p.PP425fs|GYLTL1B_ENST00000536139.1_Frame_Shift_Ins_p.PP394fs	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	425					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.R428fs*68(1)		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)		ATGAACCGCCACCCCCCCGGCC	0.649													8	79	---	---	---	---					
LRP4	4038	broad.mit.edu	37	11	46880747	46880748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:46880747_46880748insC	ENST00000378623.1	-	38	5746_5747	c.5504_5505insG	c.(5503-5505)gctfs	p.A1835fs	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1835					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCCGGAGGAGGCCCCCCCGTGA	0.564													15	245	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(748-753)atccccfs	p.IP250fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.480													9	927	---	---	---	---					
OR4C11	219429	broad.mit.edu	37	11	55371070	55371071	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:55371070_55371071insG	ENST00000302231.4	-	1	803_804	c.779_780insC	c.(778-780)cacfs	p.H260fs		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGAAAGTGGTCGGGGGGCGTGT	0.436													7	285	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													8	263	---	---	---	---					
ZDHHC5	25921	broad.mit.edu	37	11	57464257	57464258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:57464257_57464258insC	ENST00000287169.3	+	10	2396_2397	c.1034_1035insC	c.(1033-1035)accfs	p.T345fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	345						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACAC	0.515													7	398	---	---	---	---					
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(382-387)aaccccfs	p.NP128fs	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	128	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421													13	588	---	---	---	---					
PATL1	219988	broad.mit.edu	37	11	59425145	59425146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:59425145_59425146insG	ENST00000300146.9	-	5	562_563	c.478_479insC	c.(478-480)gggfs	p.G160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601).	cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TTCTGGACCCTGGGGGGGCCTC	0.455													7	301	---	---	---	---					
MS4A15	219995	broad.mit.edu	37	11	60531345	60531346	+	Frame_Shift_Ins	INS	-	-	G	rs1032939	by1000genomes	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:60531345_60531346insG	ENST00000405633.3	+	2	218_219	c.139_140insG	c.(139-141)gggfs	p.G47fs	MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Frame_Shift_Ins_p.G47fs	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	47			L -> R (in dbSNP:rs1032939).			integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						GGAGCCACCGCTGGGGGCACAG	0.604													13	275	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61093159	61093160	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:61093159_61093160insC	ENST00000301764.7	-	6	1082_1083	c.685_686insG	c.(685-687)catfs	p.H229fs	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	229	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AATGATGATGGCCCCCCCAAAG	0.490								Nucleotide excision repair (NER)					7	76	---	---	---	---					
SLC22A24	283238	broad.mit.edu	37	11	62902231	62902231	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:62902231delC	ENST00000417740.1	-	2	853	c.412delG	c.(412-414)tafs	p.V138fs	SLC22A24_ENST00000326192.5_Frame_Shift_Del_p.V138fs	NM_001136506.2	NP_001129978.2			solute carrier family 22, member 24											kidney(1)|stomach(1)	2						GATTCACATACCAGGTCCCAC	0.423													2	4	---	---	---	---					
RASGRP2	10235	broad.mit.edu	37	11	64507637	64507638	+	Splice_Site	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:64507637_64507638insG	ENST00000377494.1	-	5	1294		c.e5-2		RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGGTAGGGCTGGGGGGGCAGG	0.569													25	510	---	---	---	---					
RAB1B	81876	broad.mit.edu	37	11	66039887	66039888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:66039887_66039888insG	ENST00000311481.6	+	4	382_383	c.235_236insG	c.(235-237)gggfs	p.G79fs	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Intron	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579													7	322	---	---	---	---					
DPP3	10072	broad.mit.edu	37	11	66272154	66272155	+	Frame_Shift_Ins	INS	-	-	C	rs142447712		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:66272154_66272155insC	ENST00000532677.1	+	17	2408_2409	c.2007_2008insC	c.(2005-2010)gcccccfs	p.AP669fs	DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	650					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCACTGATGCGCCCCCCGAGTG	0.579													13	305	---	---	---	---					
CCS	9973	broad.mit.edu	37	11	66366957	66366958	+	Frame_Shift_Ins	INS	-	-	G	rs61731811	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:66366957_66366958insG	ENST00000533244.1	+	4	719_720	c.278_279insG	c.(277-279)cggfs	p.R93fs	CCS_ENST00000310190.4_Frame_Shift_Ins_p.R74fs	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	93	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GTGGCCATCCTGGGGGGGCCTG	0.644													10	152	---	---	---	---					
FAT3	120114	broad.mit.edu	37	11	92569775	92569776	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:92569775_92569776insT	ENST00000298047.6	+	15	10147_10148	c.10130_10131insT	c.(10129-10131)cttfs	p.L3377fs	FAT3_ENST00000409404.2_Frame_Shift_Ins_p.L3377fs|FAT3_ENST00000525166.1_Frame_Shift_Ins_p.L3227fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3377	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGACAGATTCATTTTTCCATTG	0.416										TCGA Ovarian(4;0.039)			9	1154	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													17	946	---	---	---	---					
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:116733010_116733011insC	ENST00000375300.1	-	16	1997_1998	c.1992_1993insG	c.(1990-1995)ggagatfs	p.D665fs	SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.500													10	817	---	---	---	---					
OR8D4	338662	broad.mit.edu	37	11	123777516	123777516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:123777516delC	ENST00000321355.2	+	1	408	c.378delC	c.(376-378)atfs	p.I126fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ACGTGGCCATCTGCAGCCCAC	0.502													23	293	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													7	274	---	---	---	---					
FOXM1	2305	broad.mit.edu	37	12	2968087	2968088	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:2968087_2968088insG	ENST00000342628.2	-	10	2235_2236	c.2122_2123insC	c.(2122-2124)tgafs	p.*708fs	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Frame_Shift_Ins_p.*670fs|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.*655fs	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CGGTGATTCAAGGGGGGGAGCA	0.579													8	167	---	---	---	---					
KCNA6	3742	broad.mit.edu	37	12	4920505	4920506	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:4920505_4920506insG	ENST00000433855.1	+	1	2164_2165	c.1298_1299insG	c.(1297-1299)gggfs	p.G433fs	KCNA6_ENST00000280684.3_Frame_Shift_Ins_p.G433fs	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	433						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCCATGACTGTGGGGGGAAAGA	0.574										HNSCC(72;0.22)			8	439	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6153463	6153464	+	Frame_Shift_Ins	INS	-	-	G	rs137990643	by1000genomes	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:6153463_6153464insG	ENST00000261405.5	-	18	2689_2690	c.2435_2436insC	c.(2434-2436)cggfs	p.R812fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	812	E1.|TIL 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCACCATGCCCGGGGGGCAGAG	0.594													15	429	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													15	353	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13128321	13128322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:13128321_13128322insC	ENST00000014930.4	-	4	648_649	c.490_491insG	c.(490-492)catfs	p.H164fs	RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000545914.1_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	164					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GAAGTAGATGTCCCCCCGGTAG	0.579													10	357	---	---	---	---					
WBP11	51729	broad.mit.edu	37	12	14940365	14940366	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:14940365_14940366insG	ENST00000261167.2	-	12	1792_1793	c.1559_1560insC	c.(1558-1560)cggfs	p.R520fs	WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	520	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	p.G521fs*28(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GGAACAGCCCAGGGGGGGCAGG	0.550													26	401	---	---	---	---					
KRT79	338785	broad.mit.edu	37	12	53215777	53215778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:53215777_53215778insC	ENST00000330553.5	-	9	1520_1521	c.1486_1487insG	c.(1486-1488)cacfs	p.H496fs		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	496	Tail.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACCCTTGGTGGCCCCCCCACTC	0.619													13	254	---	---	---	---					
GPR84	53831	broad.mit.edu	37	12	54757553	54757554	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:54757553_54757554insC	ENST00000551809.1	-	1	717_718	c.82_83insG	c.(82-84)ggtfs	p.G28fs	RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Frame_Shift_Ins_p.G28fs|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	28						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V28G(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AGCCACCACCACCCCCCAGCTA	0.564													13	594	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													15	1552	---	---	---	---					
ERBB3	2065	broad.mit.edu	37	12	56481362	56481363	+	Splice_Site	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:56481362_56481363insC	ENST00000267101.3	+	5	989_990	c.547_splice	c.e5-1	p.CP183_splice	ERBB3_ENST00000415288.2_Splice_Site_p.CP124_splice|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	183					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCCAACCAGGTCCCCCCTGTCA	0.520													11	641	---	---	---	---					
NAB2	4665	broad.mit.edu	37	12	57485596	57485597	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:57485596_57485597insG	ENST00000300131.3	+	2	1150_1151	c.772_773insG	c.(772-774)gggfs	p.G258fs	NAB2_ENST00000357680.4_Frame_Shift_Ins_p.G258fs|NAB2_ENST00000342556.6_Frame_Shift_Ins_p.G258fs|NAB2_ENST00000554718.1_3'UTR	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	258				PR -> Q (in Ref. 6 and 7).	cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAGCTTCCCAAGGGGGGATGCT	0.574													7	667	---	---	---	---					
R3HDM2	22864	broad.mit.edu	37	12	57648749	57648750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:57648749_57648750insC	ENST00000402412.1	-	24	3169_3170	c.2779_2780insG	c.(2779-2781)caafs	p.Q927fs	R3HDM2_ENST00000347140.3_Frame_Shift_Ins_p.Q913fs|R3HDM2_ENST00000358907.2_Frame_Shift_Ins_p.Q913fs|R3HDM2_ENST00000393811.2_Frame_Shift_Ins_p.Q640fs|R3HDM2_ENST00000413953.2_Intron|R3HDM2_ENST00000403821.2_Frame_Shift_Ins_p.Q947fs|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Frame_Shift_Ins_p.Q608fs			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	913						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCCACTGTTGTCCCCCCCACCC	0.634													16	253	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													33	629	---	---	---	---					
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)cgafs	p.R200fs	DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.500													13	229	---	---	---	---					
TBK1	29110	broad.mit.edu	37	12	64889371	64889371	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:64889371delC	ENST00000331710.5	+	14	1969	c.1630delC	c.(1630-1632)cgfs	p.P544fs		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	544					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AGGCACTCATCCGAAAGACAG	0.403													9	346	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			30	753	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													8	153	---	---	---	---					
MYL2	4633	broad.mit.edu	37	12	111348950	111348951	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:111348950_111348951insG	ENST00000228841.8	-	7	478_479	c.431_432insC	c.(430-432)cgafs	p.R144fs	MYL2_ENST00000548438.1_Frame_Shift_Ins_p.R130fs	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	144	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CAGTCACGTCAGGGGGGAAGGC	0.624													8	764	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:112600859_112600860insG	ENST00000550722.1	-	75	13063_13064	c.12668_12669insC	c.(12667-12669)cgafs	p.R4223fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGTGCCATCTGGGGGGGCGAT	0.629													10	247	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:120800902_120800903insC	ENST00000257552.2	-	6	433_434	c.345_346insG	c.(343-348)ggtgtcfs	p.V116fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	116	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACCGACAGCCCCCCCACAA	0.564													17	488	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121132754	121132755	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:121132754_121132755insG	ENST00000228506.3	+	3	970_971	c.542_543insG	c.(541-543)cggfs	p.R181fs	MLEC_ENST00000412616.2_Intron	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	181					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						CTGAGTGTCCAGGGGGAGGTGT	0.485													7	985	---	---	---	---					
HNF1A	6927	broad.mit.edu	37	12	121432117	121432118	+	Frame_Shift_Ins	INS	-	-	C	rs56348580	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr12:121432117_121432118insC	ENST00000257555.6	+	4	1090_1091	c.864_865insC	c.(862-867)ggccccfs	p.GP288fs	HNF1A_ENST00000544413.1_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000543427.1_Frame_Shift_Ins_p.GP171fs|HNF1A_ENST00000402929.1_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000400024.2_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000541395.1_Frame_Shift_Ins_p.GP288fs|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	288					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGTACAGCGGGCCCCCCCCAGG	0.663									Hepatic Adenoma, Familial Clustering of				11	33	---	---	---	---					
DCLK1	9201	broad.mit.edu	37	13	36397007	36397008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:36397007_36397008insC	ENST00000255448.4	-	11	1623_1624	c.1412_1413insG	c.(1411-1413)ggafs	p.G471fs	DCLK1_ENST00000360631.3_Frame_Shift_Ins_p.G471fs|DCLK1_ENST00000379893.1_Frame_Shift_Ins_p.G164fs	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	471	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CAAAAAGGTCTCCCCCCTGAGA	0.520													9	662	---	---	---	---					
LMO7	4008	broad.mit.edu	37	13	76375005	76375006	+	Frame_Shift_Ins	INS	-	-	G	rs74596180	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:76375005_76375006insG	ENST00000357063.3	+	8	2064_2065	c.804_805insG	c.(802-807)agggggfs	p.RG268fs	LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000341547.4_Frame_Shift_Ins_p.RG268fs|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000377534.3_Frame_Shift_Ins_p.RG268fs|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Frame_Shift_Ins_p.RG177fs			Q8WWI1	LMO7_HUMAN	LIM domain 7	268						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCACGTTGAGAGGGGGGCGTGA	0.450													8	565	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88327657	88327658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:88327657_88327658insC	ENST00000325089.6	+	2	233_234	c.14_15insC	c.(13-15)tccfs	p.S5fs	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	5						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CACACTTGCTGCCCCCCAGTAA	0.436													18	833	---	---	---	---					
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:97928603_97928604insC	ENST00000345429.6	+	2	895_896	c.114_115insC	c.(112-117)caccccfs	p.HP38fs	MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs	NM_144778.3	NP_659002.1	Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	38					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			AATTTGCTCATCCCCCCAAAAG	0.411													8	404	---	---	---	---					
STK24	8428	broad.mit.edu	37	13	99114124	99114125	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:99114124_99114125insC	ENST00000397517.2	-	8	1032_1033	c.956_957insG	c.(955-957)gagfs	p.E319fs	STK24_ENST00000376547.3_Frame_Shift_Ins_p.E331fs|STK24_ENST00000539966.1_Frame_Shift_Ins_p.E300fs	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	331					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CAGAATCACTGCCCCCCGAGGC	0.535													16	781	---	---	---	---					
FAM155A	728215	broad.mit.edu	37	13	108518349	108518350	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr13:108518349_108518350insC	ENST00000375915.2	-	1	733_734	c.595_596insG	c.(595-597)ggcfs	p.G199fs		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	199						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCCCCCGGCCGCCCCCCGACTC	0.624													7	198	---	---	---	---					
RNASE10	338879	broad.mit.edu	37	14	20979115	20979116	+	Frame_Shift_Ins	INS	-	-	G	rs148975319		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:20979115_20979116insG	ENST00000430083.1	+	2	973_974	c.569_570insG	c.(568-570)aggfs	p.R190fs	RNASE10_ENST00000328444.5_Frame_Shift_Ins_p.R162fs			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	162						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		TGTGAGCTCAAGGGGGGAAAAT	0.480													12	518	---	---	---	---					
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:21546603_21546604insG	ENST00000298694.4	+	10	2329_2330	c.2202_2203insG	c.(2200-2205)gaggggfs	p.EG734fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	734					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCAGAGGGATGGGGGGGCCAT	0.629													38	827	---	---	---	---					
ARHGEF40	55701	broad.mit.edu	37	14	21556191	21556192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:21556191_21556192insC	ENST00000298694.4	+	22	4579_4580	c.4452_4453insC	c.(4450-4455)caccccfs	p.HP1484fs	ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.HP1436fs			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1484					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCAGCCTGCAACCCCCCCACCC	0.574													7	261	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:21820849_21820850insG	ENST00000216297.2	-	26	3464_3465	c.3126_3127insC	c.(3124-3129)ccagaafs	p.E1043fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	1043					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCTTTTTCTTGGGGGGTGCAG	0.480													13	689	---	---	---	---					
CHD8	57680	broad.mit.edu	37	14	21884031	21884031	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:21884031delT	ENST00000399982.2	-	5	1816	c.1752delA	c.(1750-1752)aafs	p.K584fs	CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	584					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTCTGTATATTTTTTTCGCT	0.398													7	219	---	---	---	---					
OR4E2	26686	broad.mit.edu	37	14	22133745	22133746	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:22133745_22133746insG	ENST00000408935.1	+	1	449_450	c.449_450insG	c.(448-450)tggfs	p.W150fs		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GCTCTCTGGTTGGGGGGTACTG	0.480													9	603	---	---	---	---					
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:22192097_22192098insC	ENST00000390425.2	+	0	138_139																											GCTGGAAAGGACCCCCCCAATC	0.574													12	389	---	---	---	---					
RBM23	55147	broad.mit.edu	37	14	23371029	23371030	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:23371029_23371030insG	ENST00000359890.3	-	13	1504_1505	c.1309_1310insC	c.(1309-1311)gacfs	p.D437fs	RBM23_ENST00000555209.1_Frame_Shift_Ins_p.D187fs|RBM23_ENST00000399922.2_Frame_Shift_Ins_p.D421fs|RBM23_ENST00000542016.2_Frame_Shift_Ins_p.D267fs|RBM23_ENST00000346528.5_Frame_Shift_Ins_p.D403fs	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	437					mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		TCACATGGTCTGGGGGGTAAAG	0.505													7	408	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23549377	23549378	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:23549377_23549378insG	ENST00000262710.1	-	6	1667_1668	c.1340_1341insC	c.(1339-1341)ggtfs	p.G447fs	ACIN1_ENST00000457657.1_Frame_Shift_Ins_p.G407fs|ACIN1_ENST00000605057.1_Frame_Shift_Ins_p.G389fs|ACIN1_ENST00000555053.1_Frame_Shift_Ins_p.G447fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	447			A -> P (in dbSNP:rs941719).		apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GAATGAGGACAGCGGGGGCTGG	0.500													9	287	---	---	---	---					
EFS	10278	broad.mit.edu	37	14	23829230	23829231	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:23829230_23829231insG	ENST00000216733.3	-	4	1063_1064	c.456_457insC	c.(454-459)ccccgcfs	p.R153fs	EFS_ENST00000429593.2_Frame_Shift_Ins_p.R60fs|EFS_ENST00000351354.3_Frame_Shift_Ins_p.R60fs	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	153	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CGGAGGGCGGTGGGGGGCACAT	0.634													7	219	---	---	---	---					
C14orf28	122525	broad.mit.edu	37	14	45369723	45369724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:45369723_45369724insG	ENST00000325192.3	+	2	360_361	c.85_86insG	c.(85-87)gggfs	p.G29fs	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Frame_Shift_Ins_p.G29fs	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	29										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TGTTCTTCCTTGGGGGGGTGTT	0.376													8	98	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													14	378	---	---	---	---					
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)gggfs	p.G317fs	GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GATGGACATCTGGGGGGGAGAG	0.470													7	116	---	---	---	---					
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cgafs	p.R239fs	MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000440435.2_3'UTR	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.450													8	918	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493551	77493552	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:77493551_77493552insC	ENST00000238647.3	-	1	1482_1483	c.584_585insG	c.(583-585)gccfs	p.A195fs		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	195	Gly/Pro-rich.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						AGCCGTTTGGGCCCCCCAGGCC	0.693													2	4	---	---	---	---					
EML1	2009	broad.mit.edu	37	14	100367333	100367334	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:100367333_100367334insT	ENST00000262233.6	+	9	1104_1105	c.965_966insT	c.(964-966)gttfs	p.V322fs	EML1_ENST00000327921.9_Frame_Shift_Ins_p.V310fs|EML1_ENST00000334192.4_Frame_Shift_Ins_p.V341fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	322						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ATTGGAATAGGTTTTTTTGACC	0.431													7	792	---	---	---	---					
IGHG2	3501	broad.mit.edu	37	14	106110246	106110247	+	RNA	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr14:106110246_106110247insG	ENST00000390545.2	-	0	370_371																											CCTTGGGTTTTGGGGGGAAGAG	0.619													14	625	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													25	794	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25304699	25304700	+	RNA	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:25304699_25304700insC	ENST00000549804.2	+	0	98				SNHG14_ENST00000384733.1_RNA																							CGATGATGAGTCCCCCCAAAAA	0.515													7	472	---	---	---	---					
THBS1	7057	broad.mit.edu	37	15	39881488	39881489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:39881488_39881489insC	ENST00000260356.5	+	12	2024_2025	c.1859_1860insC	c.(1858-1860)tccfs	p.S620fs		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	620	EGF-like 2; calcium-binding (Potential).				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGCCTGCCCTGCCCCCCACGCT	0.569													17	605	---	---	---	---					
BMF	90427	broad.mit.edu	37	15	40396470	40396471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:40396470_40396471insG	ENST00000354670.4	-	4	597_598	c.363_364insC	c.(361-366)ccaaggfs	p.R122fs	BMF_ENST00000559701.1_Intron|BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Frame_Shift_Ins_p.R122fs|BMF_ENST00000397573.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561360.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561282.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000220446.4_Intron	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	122					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CACTGCCCTTCGGGGGGCTGCT	0.569													10	395	---	---	---	---					
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccgcafs	p.A204fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	359	---	---	---	---					
CHST14	113189	broad.mit.edu	37	15	40764439	40764440	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:40764439_40764440insC	ENST00000306243.5	+	1	1280_1281	c.1027_1028insC	c.(1027-1029)cccfs	p.P343fs	CHST14_ENST00000559991.1_Frame_Shift_Ins_p.P318fs	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	343					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		CTTGTGCAGTGCCCCCCGGGCC	0.619													11	294	---	---	---	---					
TTBK2	146057	broad.mit.edu	37	15	43044487	43044488	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:43044487_43044488insT	ENST00000267890.6	-	14	3064_3065	c.2956_2957insA	c.(2956-2958)acafs	p.T986fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	986					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CTTGAATTGTCTTTTTTCCACC	0.450													10	918	---	---	---	---					
TTBK2	146057	broad.mit.edu	37	15	43044816	43044817	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:43044816_43044817insT	ENST00000267890.6	-	14	2735_2736	c.2627_2628insA	c.(2626-2628)aaafs	p.K876fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	876					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TAGATATCTTATTTTTTTGCAT	0.406													8	784	---	---	---	---					
STRC	161497	broad.mit.edu	37	15	43893733	43893734	+	Frame_Shift_Ins	INS	-	-	G	rs74643365	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:43893733_43893734insG	ENST00000450892.2	-	24	4638_4639	c.4561_4562insC	c.(4561-4563)gggfs	p.G1521fs	STRC_ENST00000541030.1_Frame_Shift_Ins_p.G748fs	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1521					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACGAAATCCCCGGGGGGGACCC	0.530													8	223	---	---	---	---					
DUOX1	53905	broad.mit.edu	37	15	45457005	45457006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:45457005_45457006insC	ENST00000321429.4	+	35	4969_4970	c.4562_4563insC	c.(4561-4563)gccfs	p.A1521fs	DUOX1_ENST00000389037.3_Frame_Shift_Ins_p.A1521fs|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1521					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	p.G1524fs*26(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TTTAGCTGTGGCCCCCCTGGCA	0.545													12	475	---	---	---	---					
PRTG	283659	broad.mit.edu	37	15	55912218	55912219	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:55912218_55912219insG	ENST00000389286.4	-	20	3491_3492	c.3444_3445insC	c.(3442-3447)ccacctfs	p.P1149fs		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1149					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCAGAGGTTGGGGGGTGTGG	0.490													9	302	---	---	---	---					
HERC1	8925	broad.mit.edu	37	15	63918305	63918306	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:63918305_63918306insG	ENST00000443617.2	-	71	13240_13241	c.13153_13154insC	c.(13153-13155)gtafs	p.V4385fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4385					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCATACTGGGGGGGCACT	0.559													30	413	---	---	---	---					
LCTL	197021	broad.mit.edu	37	15	66850185	66850186	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:66850185_66850186insC	ENST00000341509.5	-	8	927_928	c.796_797insG	c.(796-798)accfs	p.T266fs	LCTL_ENST00000537670.1_Frame_Shift_Ins_p.T93fs	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	266					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCCACAGGTTCCCCCCAGTCA	0.525													9	583	---	---	---	---					
LARP6	55323	broad.mit.edu	37	15	71125256	71125257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:71125256_71125257insG	ENST00000299213.8	-	3	680_681	c.610_611insC	c.(610-612)gaafs	p.E204fs		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	204					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCATTCTTCTGGGGGGTGGCC	0.545													15	733	---	---	---	---					
FURIN	5045	broad.mit.edu	37	15	91424956	91424957	+	Frame_Shift_Ins	INS	-	-	G	rs35641241	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:91424956_91424957insG	ENST00000268171.3	+	16	2512_2513	c.2233_2234insG	c.(2233-2235)gggfs	p.G745fs		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	745					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.R745L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CTTTAGTTTTCGGGGGGTGAAG	0.619													9	496	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93540529	93540530	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr15:93540529_93540530insG	ENST00000394196.4	+	30	4849_4850	c.3781_3782insG	c.(3781-3783)gggfs	p.G1261fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.G1261fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1261					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGATGTAGAGTGGGGGGTGGAA	0.411													15	470	---	---	---	---					
SLX4	84464	broad.mit.edu	37	16	3634840	3634841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:3634840_3634841insG	ENST00000294008.3	-	13	5308_5309	c.4668_4669insC	c.(4666-4671)ccaagtfs	p.S1557fs		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1557	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGGGCACTTTGGGGGGCAAGT	0.500								Direct reversal of damage					17	1278	---	---	---	---					
MGRN1	23295	broad.mit.edu	37	16	4701982	4701983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:4701982_4701983insC	ENST00000399577.5	+	3	319_320	c.226_227insC	c.(226-228)cccfs	p.P76fs	MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.P76fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.P76fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.P76fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.P76fs	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	76					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CGTCACTCCTGCCCCCCACGAG	0.619													9	565	---	---	---	---					
ALG1	56052	broad.mit.edu	37	16	5125390	5125391	+	Splice_Site	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:5125390_5125391insC	ENST00000588623.1	+	5	1159_1160	c.57_splice	c.e5-1	p.T20_splice	ALG1_ENST00000544428.1_Splice_Site_p.T20_splice|ALG1_ENST00000262374.5_Splice_Site_p.T131_splice			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	131					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CTTTCCTAGAACCCCCCAGGTC	0.490													9	1059	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													20	1485	---	---	---	---					
IL21R	50615	broad.mit.edu	37	16	27460060	27460061	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:27460060_27460061insG	ENST00000337929.3	+	9	1546_1547	c.1073_1074insG	c.(1072-1074)tggfs	p.W358fs	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Frame_Shift_Ins_p.W358fs|IL21R_ENST00000395755.1_Frame_Shift_Ins_p.W358fs|IL21R_ENST00000395754.4_Frame_Shift_Ins_p.W358fs	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	358					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCCCAGAACTCGGGGGGCTCAG	0.624			T	BCL6	NHL								10	310	---	---	---	---					
GTF3C1	2975	broad.mit.edu	37	16	27499709	27499710	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:27499709_27499710insC	ENST00000356183.4	-	23	3553_3554	c.3538_3539insG	c.(3538-3540)agcfs	p.S1180fs	GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.S1180fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1180						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TACTCTTGCTTCCCCCCAAATA	0.550													17	571	---	---	---	---					
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)ccatgcfs	p.C504fs	SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	504	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGATGGCATTGGGGGGCCCAG	0.604													12	1187	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:30100077_30100078insC	ENST00000553607.1	-	4	1397_1398	c.704_705insG	c.(703-705)gatfs	p.D235fs	TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs			O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629													21	407	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3730-3735)gcggggfs	p.AG1244fs	SRCAP_ENST00000395059.2_Intron|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1244	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614													7	364	---	---	---	---					
PRSS36	146547	broad.mit.edu	37	16	31150581	31150582	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:31150581_31150582insG	ENST00000268281.4	-	15	2503_2504	c.2445_2446insC	c.(2443-2448)ccgtggfs	p.W816fs	PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.W713fs|PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.W811fs	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	816					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGGGAGCCACTGGGGGGCAGGA	0.634													7	294	---	---	---	---					
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:31422532_31422533insG	ENST00000389202.2	+	13	1541_1542	c.1492_1493insG	c.(1492-1494)gggfs	p.G498fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	498					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCCTTGCCTAGGGGGGTGAGT	0.629													7	554	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-114)tccfs	p.S38fs		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													13	514	---	---	---	---					
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1224)gccfs	p.A408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													9	278	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67290903	67290904	+	Frame_Shift_Ins	INS	-	-	G	rs35182421		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:67290903_67290904insG	ENST00000299798.11	+	7	1287_1288	c.1222_1223insG	c.(1222-1224)gggfs	p.G408fs		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	408					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R408W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGGGGGCCTGCGGGGGGCTGTG	0.559													7	405	---	---	---	---					
NPIPB15	440348	broad.mit.edu	37	16	74423894	74423895	+	Splice_Site	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:74423894_74423895insC	ENST00000429990.1	+	6	704_705	c.606_splice	c.e6-1	p.T203_splice						nuclear pore complex interacting protein family, member B15																		CTTTTTCAGATCCCCCCTTCTG	0.455													9	1048	---	---	---	---					
TLDC1	57707	broad.mit.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:84514302_84514303insC	ENST00000343629.6	-	7	1271_1272	c.1089_1090insG	c.(1087-1092)ggagcafs	p.A364fs	TLDC1_ENST00000535580.1_Frame_Shift_Ins_p.A337fs	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		TAATTGTGCTGCCCCCCCATAC	0.550													9	141	---	---	---	---					
ACSF3	197322	broad.mit.edu	37	16	89167125	89167125	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr16:89167125delG	ENST00000317447.4	+	3	413	c.36delG	c.(34-36)ctfs	p.L12fs	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Frame_Shift_Del_p.L12fs	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	12					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TCCGGCGCCTGGGCTGCGCCT	0.677													11	12	---	---	---	---					
ITGAE	3682	broad.mit.edu	37	17	3661032	3661033	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:3661032_3661033insG	ENST00000263087.4	-	9	1085_1086	c.987_988insC	c.(985-990)ccaaatfs	p.N330fs		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	330	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CCCTGCATTTTGGGGGAGTTGA	0.594													8	1435	---	---	---	---					
PLD2	5338	broad.mit.edu	37	17	4719138	4719139	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:4719138_4719139insG	ENST00000263088.6	+	14	1495_1496	c.1364_1365insG	c.(1363-1365)cggfs	p.R455fs	PLD2_ENST00000572940.1_Frame_Shift_Ins_p.R455fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	455	Catalytic.|PLD phosphodiesterase 1.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GTAGCATTCCTGGGGGGACTGG	0.594											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	743	---	---	---	---					
WSCD1	23302	broad.mit.edu	37	17	6012978	6012979	+	Frame_Shift_Ins	INS	-	-	C	rs41314099	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:6012978_6012979insC	ENST00000574946.1	+	6	1291_1292	c.901_902insC	c.(901-903)cccfs	p.P301fs	WSCD1_ENST00000574232.1_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000573634.1_Frame_Shift_Ins_p.P185fs|WSCD1_ENST00000539421.1_Frame_Shift_Ins_p.P301fs			Q658N2	WSCD1_HUMAN	WSC domain containing 1	301	WSC 2.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGCTTACCCTACCCCCCGGTTC	0.564													18	1970	---	---	---	---					
PLSCR3	57048	broad.mit.edu	37	17	7294058	7294059	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:7294058_7294059insC	ENST00000535512.1	-	10	1742_1743	c.725_726insG	c.(724-726)gctfs	p.A242fs	PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	242					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				CTCGGACCAGGCCCCCCCACTG	0.614													15	430	---	---	---	---					
MYH3	4621	broad.mit.edu	37	17	10542204	10542205	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:10542204_10542205insC	ENST00000583535.1	-	26	3411_3412	c.3324_3325insG	c.(3322-3327)aatcaafs	p.NQ1108fs	MYH3_ENST00000226209.7_Frame_Shift_Ins_p.NQ1108fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1108					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AACTCTTTGATTTTCTTCTGAA	0.431													8	71	---	---	---	---					
MYH3	4621	broad.mit.edu	37	17	10555835	10555836	+	Frame_Shift_Ins	INS	-	-	G	rs139160750		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:10555835_10555836insG	ENST00000583535.1	-	4	336_337	c.249_250insC	c.(247-252)ccagttfs	p.V84fs	MYH3_ENST00000226209.7_Frame_Shift_Ins_p.V84fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	84	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTCGAACTTGGGGGGGTTCA	0.495													58	565	---	---	---	---					
SLC47A1	55244	broad.mit.edu	37	17	19459097	19459098	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:19459097_19459098insC	ENST00000571335.1	+	7	563_564	c.143_144insC	c.(142-144)gccfs	p.A48fs	SLC47A1_ENST00000436810.2_Intron|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000270570.4_Intron|SLC47A1_ENST00000457293.1_Intron|SLC47A1_ENST00000395585.1_Intron|SLC47A1_ENST00000542886.1_Intron			Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	0						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AATGTGTGTGTCCCCCCCACAG	0.599													12	390	---	---	---	---					
PHF12	57649	broad.mit.edu	37	17	27233908	27233909	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:27233908_27233909insG	ENST00000332830.4	-	14	3455_3456	c.2645_2646insC	c.(2644-2646)cagfs	p.Q882fs	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1	Q96QT6	PHF12_HUMAN	PHD finger protein 12	882					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CAATACTGCTTGGGGGGGTTGG	0.510													14	199	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													42	901	---	---	---	---					
SLC6A4	6532	broad.mit.edu	37	17	28544271	28544272	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:28544271_28544272insC	ENST00000401766.2	-	5	1261_1262	c.749_750insG	c.(748-750)gatfs	p.D250fs	SLC6A4_ENST00000261707.3_Frame_Shift_Ins_p.D250fs			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	250					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GCCAGCTGATGCCCCCCAGGTC	0.584													7	767	---	---	---	---					
UTP6	55813	broad.mit.edu	37	17	30195101	30195101	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:30195101delG	ENST00000261708.4	-	17	1664	c.1527delC	c.(1525-1527)gafs	p.D509fs		NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	509					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCCTGAAAAAGTCAACTGAAA	0.348													11	124	---	---	---	---					
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:31439004_31439005insC	ENST00000225823.2	-	2	1661_1662	c.789_790insG	c.(787-792)ggcaggfs	p.R264fs	ASIC2_ENST00000448983.1_5'UTR|RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000359872.6_Frame_Shift_Ins_p.R213fs	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	213					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCGTTGCCTGTCCCCCCCTTGA	0.550													7	266	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35487100	35487101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:35487100_35487101insC	ENST00000353139.5	-	46	6204_6205	c.5723_5724insG	c.(5722-5724)gatfs	p.D1908fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.D1793fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.D1813fs|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.D1871fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1871	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TAATCTGGATGCCCCCCAGCTG	0.495													8	672	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35600370	35600371	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:35600370_35600371insG	ENST00000353139.5	-	22	3328_3329	c.2847_2848insC	c.(2845-2850)ccatgtfs	p.C950fs	ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	913					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTCTCCACATTGGGGGGAATGC	0.470													18	1378	---	---	---	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)del	p.G24del	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547													12	146	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40312168	40312169	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:40312168_40312169insG	ENST00000264661.3	-	16	3275_3276	c.2943_2944insC	c.(2941-2946)ccacccfs	p.P982fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.P982fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	982					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCTGAGGGGTAGGGGGGCAATA	0.604													8	177	---	---	---	---					
KCNH4	23415	broad.mit.edu	37	17	40328258	40328259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:40328258_40328259insC	ENST00000264661.3	-	5	974_975	c.642_643insG	c.(640-645)ggctcgfs	p.S215fs	KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	215					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGGCAGCGAGACCCCCCCACGG	0.604													9	240	---	---	---	---					
TUBG1	7283	broad.mit.edu	37	17	40764471	40764472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:40764471_40764472insG	ENST00000251413.3	+	5	488_489	c.426_427insG	c.(424-429)gcggggfs	p.AG142fs		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	142					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ACTCCATTGCTGGGGGGACAGG	0.505													17	1728	---	---	---	---					
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)ccaggafs	p.G21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569													10	218	---	---	---	---					
KIAA0195	9772	broad.mit.edu	37	17	73493880	73493881	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:73493880_73493881insC	ENST00000314256.7	+	27	3820_3821	c.3426_3427insC	c.(3424-3429)aaccccfs	p.NP1142fs	KIAA0195_ENST00000375248.5_Frame_Shift_Ins_p.NP1152fs|KIAA0195_ENST00000579208.1_Frame_Shift_Ins_p.NP793fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1142					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCTGGGGAAGCCCCCCCATAG	0.520													51	926	---	---	---	---					
EXOC7	23265	broad.mit.edu	37	17	74087246	74087247	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:74087246_74087247insC	ENST00000607838.1	-	7	972_973	c.878_879insG	c.(877-879)gtcfs	p.V293fs	EXOC7_ENST00000405575.4_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000467929.2_Frame_Shift_Ins_p.V252fs|EXOC7_ENST00000335146.7_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000589210.1_Frame_Shift_Ins_p.V293fs|EXOC7_ENST00000411744.2_Intron	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	293					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGAGGTTAGAGCCCCCCTTTTT	0.554													9	1065	---	---	---	---					
USP36	57602	broad.mit.edu	37	17	76799860	76799861	+	Frame_Shift_Ins	INS	-	-	G	rs3088040	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr17:76799860_76799861insG	ENST00000312010.6	-	16	2740_2741	c.2416_2417insC	c.(2416-2418)gagfs	p.E806fs	USP36_ENST00000449938.2_Intron|USP36_ENST00000542802.2_Frame_Shift_Ins_p.E806fs	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	806			Q -> R (in dbSNP:rs3088040).		ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AGAGGGGCTCTGGGGGGGCTCA	0.629													8	270	---	---	---	---					
LRRC30	339291	broad.mit.edu	37	18	7232028	7232028	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:7232028delA	ENST00000383467.2	+	1	906	c.892delA	c.(892-894)aafs	p.K299fs		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	299										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGAAGGACAAAAAACACAC	0.572													47	220	---	---	---	---					
CTDP1	9150	broad.mit.edu	37	18	77473039	77473040	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr18:77473039_77473040insC	ENST00000299543.7	+	7	1078_1079	c.931_932insC	c.(931-933)cccfs	p.P311fs	CTDP1_ENST00000075430.7_Frame_Shift_Ins_p.P311fs	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	311	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CTGGAAGTTTGCCCCCAATCTG	0.411													8	1349	---	---	---	---					
CNN2	1265	broad.mit.edu	37	19	1036501	1036502	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:1036501_1036502insC	ENST00000263097.4	+	6	957_958	c.594_595insC	c.(592-597)ctccccfs	p.LP198fs	CNN2_ENST00000562958.2_Frame_Shift_Ins_p.LP219fs|CNN2_ENST00000565096.2_Frame_Shift_Ins_p.LP187fs|CNN2_ENST00000348419.3_Frame_Shift_Ins_p.LP159fs|CNN2_ENST00000606983.1_3'UTR	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	198				RRHLYDPKNHILPPMD -> AGISMTPRTISCPPWT (in Ref. 4; BAA20887).	actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCATATCCTGCCCCCCATGGA	0.639													7	798	---	---	---	---					
SH2D3A	10045	broad.mit.edu	37	19	6755179	6755180	+	Frame_Shift_Ins	INS	-	-	G	rs139813452	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:6755179_6755180insG	ENST00000245908.6	-	5	912_913	c.643_644insC	c.(643-645)gacfs	p.D215fs	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	215					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGAGGGTGTCCGGGGGGGCTTC	0.653													18	295	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:9064309_9064310insG	ENST00000397910.4	-	3	23339_23340	c.23136_23137insC	c.(23134-23139)ccctccfs	p.S7713fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7715	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						GGAAGGGGAGAGGGGGGGATAT	0.530													8	262	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)ccaaccfs	p.T130fs	DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	130	Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAAAGGGGTTTGGGGGGGCTGT	0.495													16	444	---	---	---	---					
QTRT1	81890	broad.mit.edu	37	19	10822871	10822872	+	Frame_Shift_Ins	INS	-	-	G	rs141223779	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:10822871_10822872insG	ENST00000250237.5	+	6	691_692	c.681_682insG	c.(679-684)atggggfs	p.MG227fs		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	227					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	p.G228R(2)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GCTTCGCCATCGGGGGCCTGAG	0.614													7	923	---	---	---	---					
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)ccgctafs	p.L503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	412	---	---	---	---					
ZNF823	55552	broad.mit.edu	37	19	11833874	11833875	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:11833874_11833875insG	ENST00000341191.6	-	4	627_628	c.474_475insC	c.(472-477)ccccggfs	p.R159fs	ZNF823_ENST00000545749.1_5'UTR	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTCTTTCCGGTGGGGGGCCTTT	0.470										HNSCC(68;0.2)			8	326	---	---	---	---					
MRI1	84245	broad.mit.edu	37	19	13882967	13882968	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:13882967_13882968insC	ENST00000319545.8	+	6	898_899	c.841_842insC	c.(841-843)cccfs	p.P281fs	CTB-5E10.3_ENST00000586894.1_RNA|MRI1_ENST00000040663.6_Frame_Shift_Ins_p.P328fs	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	328					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTTCGATGTCACCCCCCACGAC	0.554													7	344	---	---	---	---					
EMR3	84658	broad.mit.edu	37	19	14774330	14774331	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:14774330_14774331insG	ENST00000253673.5	-	3	198_199	c.98_99insC	c.(97-99)caafs	p.Q33fs	EMR3_ENST00000443157.2_Frame_Shift_Ins_p.Q33fs|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.Q33fs	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	33	EGF-like 1.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGGAAGCATTTGGGGGGCACTT	0.485													21	790	---	---	---	---					
SLC1A6	6511	broad.mit.edu	37	19	15067446	15067447	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:15067446_15067447insC	ENST00000430939.2	-	6	947_948	c.818_819insG	c.(817-819)gcafs	p.A273fs	SLC1A6_ENST00000221742.3_Frame_Shift_Ins_p.A337fs|SLC1A6_ENST00000600144.1_Intron			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	337					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGCCCAGCTGACCCCCCAGGAC	0.584													7	523	---	---	---	---					
WIZ	58525	broad.mit.edu	37	19	15537825	15537826	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:15537825_15537826insC	ENST00000389282.4	-	6	3832_3833	c.3619_3620insG	c.(3619-3621)accfs	p.T1207fs	WIZ_ENST00000599910.1_Frame_Shift_Ins_p.T524fs|WIZ_ENST00000545156.1_Frame_Shift_Ins_p.T521fs|WIZ_ENST00000263381.6_Frame_Shift_Ins_p.T350fs|WIZ_ENST00000599686.2_Frame_Shift_Ins_p.T391fs			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1207						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TTCCCGTGGTGCCCCCCAGGGA	0.614													11	1161	---	---	---	---					
CHERP	10523	broad.mit.edu	37	19	16633993	16633994	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:16633993_16633994insG	ENST00000546361.2	-	11	2000_2001	c.1849_1850insC	c.(1849-1851)tggfs	p.W617fs	CHERP_ENST00000198939.6_Frame_Shift_Ins_p.W628fs|CHERP_ENST00000544299.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	617	Pro-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GTTGAAGCCATGGGGGGGAGGG	0.673													12	283	---	---	---	---					
MPV17L2	84769	broad.mit.edu	37	19	18305818	18305819	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:18305818_18305819insC	ENST00000599612.2	+	4	586_587	c.486_487insC	c.(484-489)gtccccfs	p.VP162fs	MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs	NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	162						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						TCCTCTTCGTGCCCCCCCAATT	0.653													11	198	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:31769141_31769142insC	ENST00000240587.4	-	2	1884_1885	c.1557_1558insG	c.(1555-1560)ggttgafs	p.*520fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	520					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													47	940	---	---	---	---					
HKR1	284459	broad.mit.edu	37	19	37854401	37854405	+	Frame_Shift_Del	DEL	GTTTA	GTTTA	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:37854401_37854405delGTTTA	ENST00000591471.1	+	9	2526_2530	c.885_889delGTTTA	c.(883-891)ctggfs	p.LFR295fs	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Frame_Shift_Del_p.LFR568fs|HKR1_ENST00000589392.1_Frame_Shift_Del_p.LFR550fs|HKR1_ENST00000544914.1_Frame_Shift_Del_p.LFR295fs|HKR1_ENST00000392153.3_Frame_Shift_Del_p.LFR549fs|HKR1_ENST00000541583.2_Frame_Shift_Del_p.LFR507fs			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	568					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCTAACCTGTTTAGGCACAAGAG	0.502													8	60	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40433821	40433822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:40433821_40433822insG	ENST00000221347.6	-	2	454_455	c.447_448insC	c.(445-450)ccgcacfs	p.H150fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	150	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGAGGTGCCGGGGGGTGTGA	0.604													9	339	---	---	---	---					
C19orf47	126526	broad.mit.edu	37	19	40834398	40834399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:40834398_40834399insG	ENST00000582783.1	-	6	483_484	c.471_472insC	c.(469-474)ccggcgfs	p.A158fs	C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	158										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTGC	0.614													15	679	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)cccfs	p.P599fs	CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545													13	311	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45556128	45556129	+	Frame_Shift_Ins	INS	-	-	C	rs146240710		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:45556128_45556129insC	ENST00000544944.2	+	3	969_970	c.277_278insC	c.(277-279)cccfs	p.P93fs	CLASRP_ENST00000221455.3_Frame_Shift_Ins_p.P93fs|CLASRP_ENST00000391953.4_Intron			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	93					mRNA processing|RNA splicing	nucleus		p.L96fs*17(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCCCGACTACACCCCCCCTCTG	0.614													13	692	---	---	---	---					
IGFL2	147920	broad.mit.edu	37	19	46663998	46663999	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:46663998_46663999insC	ENST00000434646.2	+	4	525_526	c.234_235insC	c.(232-237)ggccccfs	p.GP78fs	IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Frame_Shift_Ins_p.GP67fs	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	67						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCCAATGTGGTCCCCCCTGCAC	0.554													7	2134	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													19	362	---	---	---	---					
FAM83E	54854	broad.mit.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:49107037_49107038insG	ENST00000263266.3	-	4	1078_1079	c.889_890insC	c.(889-891)gaafs	p.E297fs		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGCA	0.723													6	13	---	---	---	---					
DKKL1	27120	broad.mit.edu	37	19	49878232	49878233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:49878232_49878233insC	ENST00000221498.2	+	5	1081_1082	c.676_677insC	c.(676-678)cccfs	p.P226fs	AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Frame_Shift_Ins_p.P84fs	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	226					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CTCCAGGCTGTCCCCCCGAAAG	0.658													7	133	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243087	50243088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:50243087_50243088insC	ENST00000246801.3	-	11	1806_1807	c.1724_1725insG	c.(1723-1725)gggfs	p.G575fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	575							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CACTGCTGCCTCCCCCCATTGT	0.554													10	941	---	---	---	---					
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)ctgfs	p.L333fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.530													25	634	---	---	---	---					
ZNF175	7728	broad.mit.edu	37	19	52090436	52090437	+	Frame_Shift_Ins	INS	-	-	G	rs138396190		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:52090436_52090437insG	ENST00000262259.2	+	5	1210_1211	c.852_853insG	c.(850-855)tgggggfs	p.WG284fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	284					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTTCTGAATGTGGGGGGAGCTT	0.441													10	568	---	---	---	---					
LILRB3	11025	broad.mit.edu	37	19	54725943	54725944	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:54725943_54725944insC	ENST00000391750.1	-	5	550_551	c.414_415insG	c.(412-417)ggatatfs	p.Y139fs	LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000245620.9_Frame_Shift_Ins_p.Y139fs|LILRB3_ENST00000424807.1_Frame_Shift_Ins_p.Y139fs|LILRB3_ENST00000346401.6_Frame_Shift_Ins_p.Y139fs|LILRB3_ENST00000407860.2_Frame_Shift_Ins_p.Y139fs			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	139	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGTCATATTCCCCCCTGAGG	0.579													9	287	---	---	---	---					
PEG3	5178	broad.mit.edu	37	19	57327548	57327548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:57327548delA	ENST00000326441.9	-	10	2625	c.2262delT	c.(2260-2262)tcfs	p.S754fs	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.S754fs|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.S630fs|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.S628fs|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	754					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATAGGGGTTAGAGCTAATGG	0.418													50	591	---	---	---	---					
ZNF544	27300	broad.mit.edu	37	19	58758151	58758152	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr19:58758151_58758152insC	ENST00000599227.1	+	6	784_785	c.200_201insC	c.(199-201)gccfs	p.A67fs	ZNF544_ENST00000599953.1_5'UTR|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000595981.1_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000596929.1_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000596825.1_Frame_Shift_Ins_p.A67fs|ZNF544_ENST00000596652.1_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000269829.4_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000333581.5_Frame_Shift_Ins_p.P79fs|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000594384.1_Frame_Shift_Ins_p.A67fs|ZNF544_ENST00000415203.2_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGAGCAGGAGGCCCCCCGAGGT	0.564													8	556	---	---	---	---					
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	86						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GCTATGCAGTGCCCCCCAAGCT	0.644													7	255	---	---	---	---					
PSMF1	9491	broad.mit.edu	37	20	1145690	1145691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:1145690_1145691insC	ENST00000335877.6	+	7	958_959	c.782_783insC	c.(781-783)cccfs	p.P261fs	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.P261fs|PSMF1_ENST00000246015.4_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	261	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCAGACCATCTCCCCCCGCCGG	0.579													15	562	---	---	---	---					
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)ggcccafs	p.GP572fs	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	572					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436													19	411	---	---	---	---					
SIGLEC1	6614	broad.mit.edu	37	20	3684490	3684491	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:3684490_3684491insG	ENST00000344754.4	-	4	953_954	c.954_955insC	c.(952-957)cctcagfs	p.Q319fs	SIGLEC1_ENST00000202578.4_Frame_Shift_Ins_p.Q319fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	319	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.P318P(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGGAGGCTGATGGGGGGTGAGA	0.619													8	213	---	---	---	---					
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650	by1000genomes	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:4163027_4163028insG	ENST00000305958.4	+	5	1126_1127	c.901_902insG	c.(901-903)gggfs	p.G301fs	SMOX_ENST00000379460.2_Frame_Shift_Ins_p.G301fs|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000278795.3_Intron	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	301			R -> P (in dbSNP:rs6084654).		polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity	p.R301W(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGCCCCGGGGGGGCAGG	0.673													7	57	---	---	---	---					
JAG1	182	broad.mit.edu	37	20	10630923	10630924	+	Frame_Shift_Ins	INS	-	-	G	rs144204614		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:10630923_10630924insG	ENST00000254958.5	-	9	1720_1721	c.1205_1206insC	c.(1204-1206)ccafs	p.P402fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.P243fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	402	EGF-like 5; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGTCCACTGTGGGGGGCACAC	0.465									Alagille Syndrome				7	172	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:23667825_23667826insC	ENST00000217423.3	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAAGTAATTCACCCCCCCAAAG	0.554													19	311	---	---	---	---					
MAPRE1	22919	broad.mit.edu	37	20	31434521	31434522	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:31434521_31434522insG	ENST00000375571.5	+	6	834_835	c.695_696insG	c.(694-696)gggfs	p.G232fs	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	232	APC-binding.|DCTN1-binding.|EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						CAGGAGAACGAGGGGGAAAACG	0.406													7	1096	---	---	---	---					
DHX35	60625	broad.mit.edu	37	20	37650553	37650554	+	Frame_Shift_Ins	INS	-	-	C	rs142673637		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:37650553_37650554insC	ENST00000252011.3	+	16	1601_1602	c.1568_1569insC	c.(1567-1569)gccfs	p.A523fs	DHX35_ENST00000373325.2_Frame_Shift_Ins_p.A523fs|DHX35_ENST00000373323.4_Frame_Shift_Ins_p.A492fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	523						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				ATCTTTGTGGTCCCCCCAAACC	0.455													9	1055	---	---	---	---					
LPIN3	64900	broad.mit.edu	37	20	39977298	39977299	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:39977298_39977299insG	ENST00000373257.3	+	4	419_420	c.328_329insG	c.(328-330)gggfs	p.G110fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	110					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ACCCATCCCTTGGGGGGGTCTG	0.663													7	126	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989890	47989891	+	Frame_Shift_Ins	INS	-	-	G	rs151175979	by1000genomes	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:47989890_47989891insG	ENST00000371741.4	-	2	2372_2373	c.2206_2207insC	c.(2206-2208)gtcfs	p.V736fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	736					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCAGGAGACCGGGGGGGTGTC	0.559													7	183	---	---	---	---					
CDH26	60437	broad.mit.edu	37	20	58564125	58564126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:58564125_58564126insC	ENST00000348616.4	+	9	1490_1491	c.1190_1191insC	c.(1189-1191)cccfs	p.P397fs	CDH26_ENST00000244047.5_Frame_Shift_Ins_p.P397fs	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	397	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCAGCCTTTCACCCCCAGAGCT	0.564													7	1865	---	---	---	---					
COL9A3	1299	broad.mit.edu	37	20	61468510	61468511	+	Frame_Shift_Ins	INS	-	-	C	rs149126795		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr20:61468510_61468511insC	ENST00000343916.3	+	30	1682_1683	c.1679_1680insC	c.(1678-1680)gccfs	p.A560fs	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	560	Triple-helical region 2 (COL2).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGTCCAGCTGGCCCCCCTGGGC	0.673													9	318	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11038792	11038793	+	RNA	INS	-	-	T	rs8175341		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr21:11038792_11038793insT	ENST00000470054.1	-	0	1410_1411									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)		ACCCATGCCAGTTTTTTGGAGT	0.416													7	339	---	---	---	---					
SIM2	6493	broad.mit.edu	37	21	38084848	38084849	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr21:38084848_38084849insT	ENST00000290399.6	+	3	887_888	c.274_275insT	c.(274-276)tttfs	p.F92fs	SIM2_ENST00000430056.3_Frame_Shift_Ins_p.F92fs	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	92	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GGATGGATTTGTTTTTGTGGTA	0.381													8	545	---	---	---	---					
RIPPLY3	53820	broad.mit.edu	37	21	38390442	38390443	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr21:38390442_38390443insG	ENST00000329553.2	+	4	718_719	c.508_509insG	c.(508-510)gggfs	p.G170fs	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		GGGTGACCACTGGGGGGAGGGT	0.634													7	266	---	---	---	---					
POFUT2	23275	broad.mit.edu	37	21	46705816	46705817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr21:46705816_46705817insG	ENST00000331343.7	-	2	184_185	c.158_159insC	c.(157-159)cgafs	p.R53fs	POFUT2_ENST00000349485.5_Frame_Shift_Ins_p.R53fs	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	53					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TGAAGCCTTCCGGGGGGTTGAC	0.554													12	701	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47666704	47666705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr21:47666704_47666705insG	ENST00000397708.1	-	22	4640_4641	c.4386_4387insC	c.(4384-4389)ccaaatfs	p.N1463fs	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.N1463fs|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1463					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTTCATTTTGGGGGGAAGCA	0.609													11	747	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:18022285_18022286insC	ENST00000262608.8	+	15	2390_2391	c.2390_2391insC	c.(2389-2391)gccfs	p.A797fs	CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609													15	463	---	---	---	---					
CCDC116	164592	broad.mit.edu	37	22	21991239	21991240	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:21991239_21991240insC	ENST00000292779.3	+	5	1883_1884	c.1722_1723insC	c.(1720-1725)agccccfs	p.SP574fs		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	47										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					TGGGTTCCAGTCCCCCCAAGTC	0.564													12	1466	---	---	---	---					
CRYBB1	1414	broad.mit.edu	37	22	26995459	26995460	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:26995459_26995460insG	ENST00000215939.2	-	6	883_884	c.753_754insC	c.(751-756)ccagtgfs	p.V252fs		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	252	C-terminal arm.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGGACTCACTTGGGGGGCTCTG	0.554													12	653	---	---	---	---					
THOC5	8563	broad.mit.edu	37	22	29921837	29921838	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:29921837_29921838insG	ENST00000490103.1	-	12	1286_1287	c.1164_1165insC	c.(1162-1167)cctcagfs	p.Q389fs	THOC5_ENST00000397872.1_Frame_Shift_Ins_p.Q389fs|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Frame_Shift_Ins_p.Q389fs|THOC5_ENST00000397871.1_Frame_Shift_Ins_p.Q389fs	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	389					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTGCACTGATGGGGGTGATCA	0.545													8	1367	---	---	---	---					
BPIFC	254240	broad.mit.edu	37	22	32831828	32831829	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:32831828_32831829insG	ENST00000397452.1	-	9	896_897	c.786_787insC	c.(784-789)cctctcfs	p.L263fs	BPIFC_ENST00000432451.2_Frame_Shift_Ins_p.L77fs|BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000300399.3_Frame_Shift_Ins_p.L263fs			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	263						extracellular region	lipopolysaccharide binding|phospholipid binding										ACTGGTGAGAAGGGGGGGTCGG	0.460													9	669	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6961-6966)caccccfs	p.HP2321fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2321					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				16	323	---	---	---	---					
MEI1	150365	broad.mit.edu	37	22	42159249	42159250	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:42159249_42159250insC	ENST00000401548.3	+	19	2232_2233	c.2192_2193insC	c.(2191-2193)cccfs	p.P731fs	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Frame_Shift_Ins_p.P471fs|MEI1_ENST00000540880.1_Frame_Shift_Ins_p.P49fs|MEI1_ENST00000400107.1_Frame_Shift_Ins_p.P99fs	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	731							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGGGCGAGCGCCCCCCACTGG	0.535											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	451	---	---	---	---					
SREBF2	6721	broad.mit.edu	37	22	42271636	42271637	+	Frame_Shift_Ins	INS	-	-	C	rs79727196		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:42271636_42271637insC	ENST00000361204.4	+	7	1460_1461	c.1294_1295insC	c.(1294-1296)cccfs	p.P432fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	432	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTCTGATGTCCCCCCCAGCC	0.520													15	704	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													9	286	---	---	---	---					
CELSR1	9620	broad.mit.edu	37	22	46780585	46780586	+	Splice_Site	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:46780585_46780586insG	ENST00000262738.3	-	20	6739		c.e20-2			NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1						central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCAAGAACTGGGGGGACAGT	0.520													9	642	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000472791.1_3'UTR	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													23	627	---	---	---	---					
CSF2RA	1438	broad.mit.edu	37	X	1428420	1428421	+	Frame_Shift_Ins	INS	-	-	G	rs145245265	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:1428420_1428421insG	ENST00000355432.3	+	11	1221_1222	c.1072_1073insG	c.(1072-1074)gggfs	p.G358fs	CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000417535.2_3'UTR	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	0						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCCGCGACACGGGGGAACTGT	0.495													8	2867	---	---	---	---					
PRRG1	5638	broad.mit.edu	37	X	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(391-396)ccccccfs	p.PP131fs	PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.PP131fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.PP131fs|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.PP131fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	131	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485													10	143	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)acafs	p.T161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.480													18	2343	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:48209462_48209463insG	ENST00000298396.2	-	6	477_478	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P142Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						TTGGTTTTCCCGGGGGGCACAG	0.495													7	241	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)gccfs	p.A482fs	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								10	92	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50377684	50377685	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:50377684_50377685insG	ENST00000376020.2	-	4	1413_1414	c.1388_1389insC	c.(1387-1389)cacfs	p.H463fs	SHROOM4_ENST00000460112.3_Frame_Shift_Ins_p.H347fs|SHROOM4_ENST00000289292.7_Frame_Shift_Ins_p.H463fs	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	463					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTCCTCCTGTAGGGGGGCATGG	0.554													7	426	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													9	1059	---	---	---	---					
RGAG4	340526	broad.mit.edu	37	X	71349802	71349803	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:71349802_71349803insG	ENST00000545866.1	-	1	1955_1956	c.1588_1589insC	c.(1588-1590)actfs	p.T530fs	RGAG4_ENST00000479991.1_Frame_Shift_Ins_p.T530fs|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	530										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GCGAATCAGTTGGGGGGAGCTG	0.579													7	343	---	---	---	---					
VSIG1	340547	broad.mit.edu	37	X	107310311	107310312	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:107310311_107310312insC	ENST00000415430.3	+	4	628_629	c.467_468insC	c.(466-468)accfs	p.T156fs	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Frame_Shift_Ins_p.T120fs	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	120	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GATGTTAACAACCCCCCAGACT	0.436													7	568	---	---	---	---					
DKC1	1736	broad.mit.edu	37	X	153995315	153995316	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3316-01A-01W-0886-08	TCGA-A3-3316-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e227f046-b793-4db9-9ec6-ce0df0110f62	57bb209a-9a43-48f4-8183-8350bee49508	g.chrX:153995315_153995316insG	ENST00000369550.5	+	6	702_703	c.492_493insG	c.(490-495)gaggggfs	p.EG164fs		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	164					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGCTATTGAAGGGGGGACCCA	0.475									Congenital Dyskeratosis				9	403	---	---	---	---