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
MAGI2	9863	broad.mit.edu	37	7	77797325	77797325	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:77797325C>T	ENST00000354212.4	-	15	2757	c.2504G>A	c.(2503-2505)gGc>gAc	p.G835D	MAGI2_ENST00000522391.1_Missense_Mutation_p.G835D|MAGI2_ENST00000419488.1_Missense_Mutation_p.G821D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	835	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGGGTTTTGCCGGCTACTGG	0.537000													4	289					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177041035	177041035	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:177041035A>T	ENST00000393643.2	+	4	577	c.325A>T	c.(325-327)Agt>Tgt	p.S109C	WDR17_ENST00000507824.2_Missense_Mutation_p.S133C|WDR17_ENST00000280190.4_Missense_Mutation_p.S133C|WDR17_ENST00000508596.1_Missense_Mutation_p.S109C	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	133										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGCTTCTCTTAGTTGGTGCTG	0.408000													6	262					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154493879	154493879	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:154493879G>A	ENST00000368482.4	+	6	1131	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.R98Q	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	98	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCCACAAGCGAAAACTGTTC	0.507000													101	383					0	0	1	0	0
PPP3CC	5533	broad.mit.edu	37	8	22370804	22370804	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:22370804A>T	ENST00000240139.5	+	6	957		c.e6-1		PPP3CC_ENST00000289963.8_Splice_Site|PPP3CC_ENST00000518852.1_Splice_Site|PPP3CC_ENST00000397775.3_Splice_Site	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme						activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTGTCTTCTAGTTAGACAGG	0.448000													6	295					0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81399984	81399984	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:81399984T>C	ENST00000430430.1	+	2	1718	c.939T>C	c.(937-939)tcT>tcC	p.S313S	ZBTB10_ENST00000426744.2_Silent_p.S313S|ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000455036.3_Silent_p.S313S	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	313					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ACCACGTCTCTACCGAGCACA	0.537000													18	95					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023992	76023992	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:76023992A>T	ENST00000393004.2	-	5	1777	c.1556T>A	c.(1555-1557)aTa>aAa	p.I519K	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.I519K|FILIP1_ENST00000370020.1_Missense_Mutation_p.I420K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	519										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTTGTTTTATTTTTTCCAT	0.318000													4	81					0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38548835	38548835	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:38548835A>T	ENST00000423485.1	-	30	4123		c.e30+1			NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa						apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AGTTTTCCTTACTTGCTGCTC	0.413000													6	176					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179566270	179566270	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:179566270C>G	ENST00000589042.1	-	110	30807	c.30583G>C	c.(30583-30585)Gca>Cca	p.A10195P	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9878P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A8951P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9878	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGCACTGCTCTGATAGGC	0.433000													27	132					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120756635	120756635	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:120756635T>A	ENST00000378164.2	-	24	3407		c.e24-2			NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACTGGAAAACTAAAACACACA	0.378000													5	263					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79617108	79617108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:79617108T>A	ENST00000296739.4	+	1	1319	c.1074T>A	c.(1072-1074)taT>taA	p.Y358*		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AGATAAACTATAAACAGGACA	0.373000													5	115					0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57272789	57272789	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:57272789T>C	ENST00000262293.4	+	7	1154	c.842T>C	c.(841-843)gTt>gCt	p.V281A		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	281										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCGACTCGAGTTACAAACGTC	0.393000													3	131					0	0	1	0	0
ELK4	2005	broad.mit.edu	37	1	205589422	205589422	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:205589422G>C	ENST00000357992.4	-	3	1091	c.752C>G	c.(751-753)aCc>aGc	p.T251S	ELK4_ENST00000289703.4_Missense_Mutation_p.T251S	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGGTGGTGTGGTGGCAAAAGC	0.502000			T	SLC45A3	prostate								13	566					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681278	100681278	+	Missense_Mutation	SNP	A	A	C	rs145957833	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:100681278A>C	ENST00000306151.4	+	3	6645	c.6581A>C	c.(6580-6582)aAt>aCt	p.N2194T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2194	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)					CCTGTGACCAATTCTACTGAA	0.493000													5	556					0	0	1	0	0
TRAV2	28691	broad.mit.edu	37	14	22180791	22180791	+	RNA	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:22180791A>T	ENST00000390424.2	+	0	74																											TGTTTTCTGTAGTTGCAGAAA	0.418000													8	158					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146244777	146244777	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:146244777A>T	ENST00000367503.3	-	18	3971		c.e18+1		SHPRH_ENST00000438092.2_Splice_Site|SHPRH_ENST00000275233.7_Splice_Site|SHPRH_ENST00000367505.2_Splice_Site	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase						DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGTTTTCTTACTTCTCTGAC	0.323000													4	81					0	0	1	0	0
IFT46	56912	broad.mit.edu	37	11	118428460	118428460	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:118428460T>C	ENST00000264020.2	-	4	568	c.191A>G	c.(190-192)cAc>cGc	p.H64R	IFT46_ENST00000530872.1_Missense_Mutation_p.H64R|IFT46_ENST00000264021.3_Intron	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	15					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TACCTTTCTGTGCTTCTGGCT	0.453000													3	181					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084356	53084356	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:53084356A>T	ENST00000276480.7	-	10	1748	c.1065T>A	c.(1063-1065)aaT>aaA	p.N355K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	355						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)				TCTTACGTTTATTGTTAAAGA	0.363000													6	359					0	0	1	0	0
LETMD1	25875	broad.mit.edu	37	12	51447559	51447559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:51447559A>T	ENST00000418425.2	+	4	448		c.e4-1		LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000262055.4_Splice_Site|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000550929.1_Splice_Site	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ATTTCTGCTTAGTTCCGCCAA	0.403000													10	678					0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393000													12	428					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9610052	9610052	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:9610052A>T	ENST00000310430.6	+	20	3096		c.e20-1		TNKS_ENST00000518281.1_Splice_Site	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase						mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTTCTGTTTTAGTTGCTGGTC	0.343000													7	43					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2463870	2463870	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:2463870A>G	ENST00000278772.4	-	6	2224	c.1737T>C	c.(1735-1737)tgT>tgC	p.C579C	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CACACTCCCTACAAACATAAT	0.512000													3	233					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66795797	66795797	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:66795797A>T	ENST00000488550.1	+	11	1323		c.e11-1		MEIS1_ENST00000272369.9_Splice_Site|MEIS1_ENST00000407092.2_Splice_Site|MEIS1_ENST00000398506.2_Splice_Site|MEIS1_ENST00000444274.2_Splice_Site|MEIS1_ENST00000409517.1_Splice_Site|MEIS1_ENST00000495021.2_Splice_Site			O00470	MEIS1_HUMAN	Meis homeobox 1								sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GTACTTTTGTAGTAAGTCAAG	0.413000													6	425					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106109045	106109045	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:106109045A>T	ENST00000357242.5	+	16	2618	c.2444A>T	c.(2443-2445)tAt>tTt	p.Y815F	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.Y809F	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	815						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTATCTTGTTATTGGTGTTTG	0.343000													16	291					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													3	39					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57182112	57182112	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:57182112A>T	ENST00000395123.2	-	11	1340	c.1036T>A	c.(1036-1038)Tac>Aac	p.Y346N	SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y346N|SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y359N|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y346N	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	346					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						TCCTTCTGGTACTTCTGTTTA	0.547000													16	617					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149814337	149814337	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:149814337C>T	ENST00000370396.2	+	9	914	c.860C>T	c.(859-861)gCc>gTc	p.A287V	MTM1_ENST00000543350.1_Missense_Mutation_p.A172V|MTM1_ENST00000542741.1_Missense_Mutation_p.A192V|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.A250V	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	287	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AATGCAGTGGCCAACAAGGTG	0.383000													4	504					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43534834	43534834	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr18:43534834A>T	ENST00000282041.5	-	2	568	c.534T>A	c.(532-534)agT>agA	p.S178R		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	178					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGTCTTCTTTACTATTCTGAG	0.428000													6	54					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133249	89133249	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:89133249T>A	ENST00000535633.1	-	11	1250		c.e11-2		NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000532825.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAATATACTAAAAAGCAAC	0.289000													4	73					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50725150	50725150	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:50725150G>T	ENST00000515869.1	-	6	1535	c.1415C>A	c.(1414-1416)aCa>aAa	p.T472K	PGBD3_ENST00000508005.2_Missense_Mutation_p.T4K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.T472K|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Missense_Mutation_p.T472K|PGBD3_ENST00000374127.3_Missense_Mutation_p.T4K	NM_001277059.1	NP_001263988.1																					TAAACTTAGTGTTCGAGGCAT	0.378000													7	308					8.12818e-05	8.42133e-05	1	1	0
RNF17	56163	broad.mit.edu	37	13	25353868	25353868	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:25353868T>C	ENST00000255324.5	+	5	545	c.493T>C	c.(493-495)Tta>Cta	p.L165L	RNF17_ENST00000381921.1_Silent_p.L165L|RNF17_ENST00000255325.5_Silent_p.L165L|RNF17_ENST00000255326.4_3'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	165					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTCGAACAGTTAAGCATTGC	0.363000													53	128					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20691896	20691896	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:20691896A>T	ENST00000315519.2	+	1	106	c.28A>T	c.(28-30)Act>Tct	p.T10S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTTGGTTACTTCTGTTTT	0.378000													4	134					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271141	59271141	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:59271141A>T	ENST00000313253.1	+	1	93	c.93A>T	c.(91-93)ttA>ttT	p.L31F		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTCTTTTTTTATGTCTTGTGT	0.448000													10	238					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93757421	93757421	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:93757421A>T	ENST00000265990.6	+	25	3881	c.3573A>T	c.(3571-3573)gtA>gtT	p.V1191V	BTAF1_ENST00000544642.1_Silent_p.V19V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1191					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGTTCCTGTATTAGGAAGAA	0.388000													4	99					0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6952544	6952544	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:6952544G>A	ENST00000229264.3	+	7	690	c.285G>A	c.(283-285)ctG>ctA	p.L95L	GNB3_ENST00000435982.2_Silent_p.L95L	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	95					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CCATCCCACTGCGCTCCTCCT	0.607000													4	279					0	0	1	0	0
TMEM92	162461	broad.mit.edu	37	17	48351884	48351884	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:48351884G>A	ENST00000300433.3	+	2	132	c.22G>A	c.(22-24)Ggc>Agc	p.G8S	TMEM92_ENST00000507382.1_Missense_Mutation_p.G8S	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	8						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TTGGGTCCCCGGCCTCGCGCC	0.612000													3	51					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718022	142718022	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:142718022A>T	ENST00000381779.4	-	2	1128	c.903T>A	c.(901-903)acT>acA	p.T301T	SLITRK4_ENST00000338017.4_Silent_p.T301T|SLITRK4_ENST00000356928.1_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	321					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743694	147743694	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:147743694T>A	ENST00000370460.2	+	3	925	c.446T>A	c.(445-447)aTa>aAa	p.I149K	AFF2_ENST00000370457.5_Missense_Mutation_p.I145K|AFF2_ENST00000370458.1_Missense_Mutation_p.I145K|AFF2_ENST00000342251.3_Missense_Mutation_p.I145K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	149					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCAACTCTAATACACAGCAAC	0.453000													11	876					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158447321	158447321	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:158447321T>C	ENST00000409339.3	-	22	2825	c.2712A>G	c.(2710-2712)caA>caG	p.Q904Q	NCAPG2_ENST00000356309.3_Silent_p.Q904Q|NCAPG2_ENST00000409423.1_Silent_p.Q904Q|NCAPG2_ENST00000275830.10_Silent_p.Q696Q|NCAPG2_ENST00000541468.1_Silent_p.Q405Q|NCAPG2_ENST00000449727.2_Silent_p.Q904Q			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	904					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCTGTAAGAGTTGCATCTGAA	0.463000													77	269					0	0	1	0	0
TPT1	7178	broad.mit.edu	37	13	45914269	45914269	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:45914269A>G	ENST00000379056.1	-	2	221	c.51T>C	c.(49-51)aaT>aaC	p.N17N	TPT1_ENST00000379055.1_Silent_p.N17N|TPT1_ENST00000530705.1_Silent_p.N51N|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000309246.5_Silent_p.N51N|TPT1_ENST00000379060.4_Silent_p.N39N			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	51					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CAGCGGAGGCATTTCCACCAA	0.453000													19	92					0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964318	109964318	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:109964318G>T	ENST00000309415.6	+	2	762	c.762G>T	c.(760-762)ttG>ttT	p.L254F		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	254							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCCAGCCCTTGCCACACGCCC	0.577000													6	68					1.11149e-13	1.1826e-13	1	1	0
CHD6	84181	broad.mit.edu	37	20	40033458	40033458	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:40033458C>T	ENST00000373233.3	-	37	8100	c.7923G>A	c.(7921-7923)caG>caA	p.Q2641Q	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2641					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGTGTCTGGCCTGCTGCATGG	0.542000													36	66					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009353	120009353	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:120009353C>G	ENST00000371311.3	-	1	426	c.172G>C	c.(172-174)Gtg>Ctg	p.V58L		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	58										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						AGGCCTTCCACGGGCCCTGCG	0.751000													3	14					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9009609	9009609	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:9009609T>C	ENST00000397910.4	-	39	39320	c.39117A>G	c.(39115-39117)acA>acG	p.T13039T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13041	SEA 7.				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						GGACCCTCTCTGTGGTGTTGA	0.562000													10	2044					0	0	1	0	0
EXTL2	2135	broad.mit.edu	37	1	101339500	101339500	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:101339500A>T	ENST00000370114.3	-	5	2427	c.991T>A	c.(991-993)Taa>Aaa	p.*331K	EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K|EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	0					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTACTTTTATATTTTTCTT	0.303000													5	73					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152324541	152324541	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:152324541A>C	ENST00000243326.4	+	30	7111	c.6628A>C	c.(6628-6630)Ata>Cta	p.I2210L	RIF1_ENST00000430328.2_Missense_Mutation_p.I2210L|RIF1_ENST00000453091.2_Missense_Mutation_p.I2210L|RIF1_ENST00000444746.2_Missense_Mutation_p.I2210L|RIF1_ENST00000428287.2_Missense_Mutation_p.I2210L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2210	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGCAGATCCAATATACCAAGC	0.353000													27	134					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196210676	196210676	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:196210676A>T	ENST00000318037.3	-	4	1239	c.645T>A	c.(643-645)agT>agA	p.S215R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	215					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GTTTGTTCTTACTTTTCTTTT	0.363000													8	162					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35083383	35083383	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:35083383A>G	ENST00000290378.4	-	6	1577	c.922T>C	c.(922-924)Tac>Cac	p.Y308H	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	308					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATACCAGGGTACATAGTGGTG	0.448000													4	705					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4624281	4624281	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:4624281C>T	ENST00000269260.2	+	15	1410	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	ARRB2_ENST00000572457.1_Missense_Mutation_p.R201W|ARRB2_ENST00000346341.2_Missense_Mutation_p.R390W|ARRB2_ENST00000381488.6_Missense_Mutation_p.R378W|ARRB2_ENST00000574954.1_Missense_Mutation_p.R201W|ARRB2_ENST00000575877.1_3'UTR|ARRB2_ENST00000571206.1_Missense_Mutation_p.R201W|ARRB2_ENST00000412477.3_Missense_Mutation_p.R414W	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	393	Interaction with AP2B1.|Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						GGACTTTGCCCGGCTTCGGCT	0.557000													5	739					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39550117	39550117	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:39550117A>T	ENST00000265707.5	+	17	1866		c.e17-1		ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site|ADAM18_ENST00000523755.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTTTTGTTTTAGTACTGTGTA	0.279000													4	83					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41246630	41246630	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:41246630A>T	ENST00000309486.4	-	9	1057	c.30T>A	c.(28-30)aaT>aaA	p.N10K	BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.N259K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.N306K|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.N306K|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.N306K|BRCA1_ENST00000354071.3_Missense_Mutation_p.N306K	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	306			E -> K (in BC and BROVCA1).		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTTGCTTTTATTACAGAATT	0.418000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			5	182					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91025444	91025444	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:91025444C>T	ENST00000268182.5	+	28	3610	c.3486C>T	c.(3484-3486)ttC>ttT	p.F1162F	IQGAP1_ENST00000560738.1_Silent_p.F590F	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1162	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGATGCGCTTCATTGCCAAAG	0.522000											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	181					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119909965	119909965	+	Silent	SNP	T	T	C	rs139079166	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:119909965T>C	ENST00000327554.2	+	3	802	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	113										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGACACCTTATTGAGGTAAGT	0.458000													168	552					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874693	24874693	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:24874693A>T	ENST00000396432.2	-	26	5011	c.4525T>A	c.(4525-4527)Tca>Aca	p.S1509T		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1508					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGTGTTTTGAGTTGTGTGGT	0.488000													6	675					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407417	55407417	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:55407417A>G	ENST00000341048.4	-	10	1309	c.1158T>C	c.(1156-1158)gaT>gaC	p.D386D	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000434982.2_Silent_p.D98D|ANKRD55_ENST00000504958.2_Silent_p.D343D	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	385										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CCACGATGCTATCAAAGGTGG	0.463000													128	678					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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	130					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38211143	38211143	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:38211143A>T	ENST00000379705.3	-	11	3688	c.2831T>A	c.(2830-2832)aTa>aAa	p.I944K	TRPC4_ENST00000379679.1_Missense_Mutation_p.I771K|TRPC4_ENST00000358477.2_Missense_Mutation_p.I860K|TRPC4_ENST00000447043.1_Missense_Mutation_p.I803K|TRPC4_ENST00000338947.5_Missense_Mutation_p.I771K|TRPC4_ENST00000379673.2_Missense_Mutation_p.I795K|TRPC4_ENST00000379681.3_Missense_Mutation_p.I949K|TRPC4_ENST00000355779.2_Missense_Mutation_p.I803K|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	944	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTCCTTTGGTATTATAGGAAC	0.453000													4	306					0	0	1	0	0
CXorf61	203413	broad.mit.edu	37	X	115593103	115593103	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:115593103A>T	ENST00000371894.4	-	2	293	c.147T>A	c.(145-147)atT>atA	p.I49I		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	49						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						TATTGCTGTTAATTAACCCAG	0.393000													5	338					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380960	3380960	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:3380960A>T	ENST00000354599.6	-	4	1166	c.1062T>A	c.(1060-1062)acT>acA	p.T354T	ZNF195_ENST00000429541.2_Silent_p.T358T|ZNF195_ENST00000399602.4_Silent_p.T426T|ZNF195_ENST00000343338.7_Silent_p.T358T|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000005082.9_Silent_p.T403T|ZNF195_ENST00000526601.1_Silent_p.T407T	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	426				Missing (in Ref. 2; BAD18466).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCTTATGTTTAGTAAGGTCTG	0.433000													6	498					0	0	1	0	0
EAPP	55837	broad.mit.edu	37	14	34994015	34994015	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													10	299					0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151640946	151640946	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:151640946A>T	ENST00000368843.3	+	7	1105		c.e7-1		SNX27_ENST00000368838.1_Splice_Site|SNX27_ENST00000482791.1_Splice_Site|SNX27_ENST00000458013.2_Splice_Site	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27						cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTTCCTTTAGTACGTAAAT	0.373000													5	188					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360904	105360904	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:105360904A>T	ENST00000297581.2	+	2	173	c.124A>T	c.(124-126)Att>Ttt	p.I42F	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.I42F|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	42					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GGTTGCTCTTATTTCAGTGGG	0.507000													7	532					0	0	1	0	0
PPIL4	85313	broad.mit.edu	37	6	149838510	149838510	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:149838510A>C	ENST00000253329.2	-	11	1091	c.1059T>G	c.(1057-1059)gaT>gaG	p.D353E	PPIL4_ENST00000340881.2_5'UTR	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	353	Lys-rich.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GCTTTACTTTATCTTTCAGAA	0.328000													7	44					0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124496890	124496890	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:124496890G>T	ENST00000539644.1	+	6	2029	c.199G>T	c.(199-201)Gat>Tat	p.D67Y	ZNF664_ENST00000538932.2_Missense_Mutation_p.D67Y|ZNF664_ENST00000392404.3_Missense_Mutation_p.D67Y|ZNF664_ENST00000337815.4_Missense_Mutation_p.D67Y|RP11-522N14.1_ENST00000540762.1_RNA			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TTGTGGTAAGGATTTTAGCAC	0.373000													5	265					3.59834e-05	3.75272e-05	1	1	0
CCDC11	220136	broad.mit.edu	37	18	47777146	47777146	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr18:47777146A>T	ENST00000398545.4	-	5	1095	c.978T>A	c.(976-978)gaT>gaA	p.D326E		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	326										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GTTTCTTTTTATCTGCCTCTT	0.423000													12	599					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125647387	125647387	+	RNA	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:125647387G>A	ENST00000485843.1	+	0	532					NR_024251.1																						ACCAGAAACTGTTTCCCTATG	0.502000													9	410					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70643015	70643015	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:70643015G>T	ENST00000449580.1	+	30	4549	c.4498G>T	c.(4498-4500)Gat>Tat	p.D1500Y	TAF1_ENST00000276072.3_Missense_Mutation_p.D1521Y|TAF1_ENST00000423759.1_Missense_Mutation_p.D1521Y|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000373790.4_Missense_Mutation_p.D1500Y			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1500	Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCCCTTGCTGGATGATGATGA	0.423000													33	140					8.16721e-17	8.77836e-17	1	1	0
OR13C8	138802	broad.mit.edu	37	9	107331538	107331538	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:107331538A>T	ENST00000335040.1	+	1	90	c.90A>T	c.(88-90)ctA>ctT	p.L30L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTCGTTCTAATTTTGTGGA	0.433000													11	394					0	0	1	0	0
LGALS17A	400696	broad.mit.edu	37	19	40172101	40172101	+	RNA	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:40172101C>A	ENST00000412609.1	+	0	90																											GTGTCCTTGTCTACTGGTTCT	0.552000													5	195					0.0215528	0.0218993	1	1	0
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C							extracellular region	lipopolysaccharide binding|phospholipid binding										TGGTTAAAACTAAATAACCAA	0.303000													7	72					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92471891	92471891	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:92471891A>T	ENST00000267622.4	-	11	2802	c.2429T>A	c.(2428-2430)aTa>aAa	p.I810K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	810					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTCTTGTTTATAAGTTGTGT	0.308000			T	PDGFRB	AML								6	77					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185678806	185678806	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:185678806G>A	ENST00000515030.1	-	20	2264	c.1939C>T	c.(1939-1941)Ctg>Ttg	p.L647L	ACSL1_ENST00000513317.1_Silent_p.L647L|ACSL1_ENST00000281455.2_Silent_p.L647L|ACSL1_ENST00000507295.1_Silent_p.L613L|ACSL1_ENST00000504342.1_Silent_p.L647L|ACSL1_ENST00000454703.2_Silent_p.L476L|ACSL1_ENST00000437665.3_Silent_p.L476L			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	647					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AATGGTTTCAGACCAGAATCC	0.348000													7	917					0	0	1	0	0
DLST	1743	broad.mit.edu	37	14	75348686	75348686	+	Silent	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:75348686G>T	ENST00000334220.4	+	1	91	c.30G>T	c.(28-30)cgG>cgT	p.R10R	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_5'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	10					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		GTGTGTCTCGGGCGTTCAGCC	0.711000													2	0					1	1	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186158774	186158774	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:186158774A>G	ENST00000271588.4	+	107	16901	c.16672A>G	c.(16672-16674)Aca>Gca	p.T5558A	HMCN1_ENST00000367492.2_Missense_Mutation_p.T5441A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5558					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTTGCATACACACAGGATGG	0.468000													37	111					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109378555	109378555	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:109378555A>T	ENST00000283195.6	+	19	2728		c.e19-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGTTTTTTTAGTTGCAACTA	0.333000													5	60					0	0	1	0	0
PPP1R7	5510	broad.mit.edu	37	2	242102749	242102749	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:242102749G>C	ENST00000234038.6	+	7	1121	c.647G>C	c.(646-648)gGg>gCg	p.G216A	PPP1R7_ENST00000272983.8_Missense_Mutation_p.G173A|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000401987.1_Missense_Mutation_p.G173A|PPP1R7_ENST00000406106.3_Missense_Mutation_p.G216A|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G210A|PPP1R7_ENST00000402734.1_Missense_Mutation_p.G157A|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G216A	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	216						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TTGTTTTTGGGGAAAAACAAA	0.493000													33	254					0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|SDHAF2_ENST00000537782.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|RP11-286N22.8_ENST00000543044.1_Splice_Site	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2						mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403000													6	233					0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116925316	116925316	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:116925316A>T	ENST00000355044.3	+	7	1130		c.e7-1		ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1							integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTTGCTTTTAGTTACAATTT	0.328000													4	102					0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967383	31967383	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:31967383A>T	ENST00000357886.4	-	9	1186	c.1033T>A	c.(1033-1035)Tat>Aat	p.Y345N	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.Y331N|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.Y331N|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.Y241N|CDK5RAP1_ENST00000339269.5_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	345					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TTGGTTTTATAGTTGGTGGTA	0.468000													5	150					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32832520	32832520	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:32832520A>T	ENST00000421745.2	+	72	14204		c.e72-1			NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6						anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTTATTCTTTAGGTGTTGGTG	0.408000													10	466					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39757017	39757017	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:39757017T>A	ENST00000395670.3	-	7	1323		c.e7-2		KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361418.5_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													6	121					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117742192	117742192	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:117742192A>T	ENST00000276204.6	+	26	2825		c.e26-1		DOCK11_ENST00000276202.7_Splice_Site			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTTTATTTGTAGTATAGCTTC	0.363000													4	142					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76750433	76750433	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:76750433A>T	ENST00000261183.3	-	23	2989	c.2510T>A	c.(2509-2511)aTa>aAa	p.I837K	OSBPL8_ENST00000393250.4_Missense_Mutation_p.I795K|OSBPL8_ENST00000393249.2_Missense_Mutation_p.I795K	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	837					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGTTTGTTTTATAGATTCGAT	0.318000													4	63					0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123332672	123332672	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:123332672G>T	ENST00000223023.4	-	9	1408	c.1076C>A	c.(1075-1077)cCa>cAa	p.P359Q		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	359	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGTGGTGGTGGAGGCCCTGA	0.672000													31	83					1.36615e-20	1.47843e-20	1	1	0
GJA10	84694	broad.mit.edu	37	6	90604653	90604653	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:90604653A>T	ENST00000369352.1	+	1	466	c.466A>T	c.(466-468)Act>Tct	p.T156S		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	156					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.T156A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTGCTGCGTACTTATGTCTT	0.438000													7	395					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65983659	65983659	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:65983659A>T	ENST00000443035.3	-	23	3485	c.3270T>A	c.(3268-3270)atT>atA	p.I1090I	DENND4A_ENST00000431932.2_Silent_p.I1047I	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTTCCTGGTTAATTCTATTGA	0.388000													4	58					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87607649	87607649	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:87607649A>T	ENST00000398204.4	+	3	569		c.e3-1		ADAM22_ENST00000398209.3_Splice_Site|ADAM22_ENST00000265727.7_Splice_Site|ADAM22_ENST00000398201.4_Splice_Site|ADAM22_ENST00000439864.1_Splice_Site|ADAM22_ENST00000315984.7_Splice_Site	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22						cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTGATATTGTAGTTGACTCAT	0.343000													5	143					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80156290	80156290	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:80156290T>C	ENST00000392347.1	-	3	452	c.416A>G	c.(415-417)aAt>aGt	p.N139S	CCDC57_ENST00000392343.3_Missense_Mutation_p.N139S|CCDC57_ENST00000389641.4_Missense_Mutation_p.N139S	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	139										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AATCTCACCATTCTTGTCACT	0.413000													9	35					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72420894	72420894	+	Missense_Mutation	SNP	A	A	T	rs112816784		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:72420894A>T	ENST00000340595.3	+	18	2796	c.2600A>T	c.(2599-2601)tAt>tTt	p.Y867F	SLC4A4_ENST00000425175.1_Missense_Mutation_p.Y911F|SLC4A4_ENST00000264485.5_Missense_Mutation_p.Y911F|SLC4A4_ENST00000351898.6_Missense_Mutation_p.Y827F	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	911						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GTGTTCCTGTATATGGGAGTA	0.348000													6	417					0	0	1	0	0
SHMT2	6472	broad.mit.edu	37	12	57627609	57627609	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:57627609G>A	ENST00000328923.3	+	10	1653	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	SHMT2_ENST00000393827.4_Missense_Mutation_p.E305K|SHMT2_ENST00000557487.1_Missense_Mutation_p.E391K|SHMT2_ENST00000449049.3_Missense_Mutation_p.E380K|SHMT2_ENST00000553474.1_Missense_Mutation_p.E380K|SHMT2_ENST00000414700.3_Missense_Mutation_p.E380K	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	401						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCGGGTGCTAGAGCTTGTATC	0.607000													13	62					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60074085	60074085	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:60074085C>T	ENST00000267484.5	-	4	2226	c.1891G>A	c.(1891-1893)Gca>Aca	p.A631T	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Missense_Mutation_p.A63T|RTN1_ENST00000395090.1_Missense_Mutation_p.A48T	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	631	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCTGAGAGTGCGGCCAGGGCC	0.567000													3	143					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28378134	28378134	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:28378134A>T	ENST00000394835.3	+	9	1392		c.e9-1		EFCAB5_ENST00000378738.3_Splice_Site|EFCAB5_ENST00000394832.2_Splice_Site|EFCAB5_ENST00000320856.5_Splice_Site|EFCAB5_ENST00000541045.1_Splice_Site|EFCAB5_ENST00000536908.2_Splice_Site	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5								calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTTTGCTTAGGTAGGGTTT	0.398000													4	118					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26734255	26734255	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:26734255T>A	ENST00000396005.3	-	2	649		c.e2-2		SLC5A12_ENST00000280467.6_Splice_Site	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12						sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTGTAAGTACTAAAGGAAACA	0.428000													11	967					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119686074	119686074	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:119686074T>A	ENST00000379735.5	-	10	1455		c.e10-2		SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000505134.1_Splice_Site|SEC24D_ENST00000280551.6_Splice_Site|SEC24D_ENST00000511481.1_Splice_Site	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATGGTGGAACTAATAAAAACA	0.323000													4	113					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63257288	63257288	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:63257288C>G	ENST00000323865.3	-	1	492	c.259G>C	c.(259-261)Gtg>Ctg	p.V87L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	87					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGCACCAACACCGACACCATG	0.602000													10	54					0	0	1	0	0
MMD	23531	broad.mit.edu	37	17	53471706	53471706	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:53471706G>A	ENST00000262065.3	-	7	1002	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	236					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CATAAATGCCGCATAAAGTCC	0.458000													5	760					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106640215	106640215	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:106640215A>T	ENST00000515279.1	+	3	646		c.e3-1		GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing							cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTTGTTTTGTAGGTTAGTCAG	0.338000													5	124					0	0	1	0	0
PRG3	10394	broad.mit.edu	37	11	57147060	57147060	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:57147060C>T	ENST00000287143.2	-	3	391	c.282G>A	c.(280-282)agG>agA	p.R94R		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	94					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						TGTCTTCTTCCCTGGGGCACT	0.517000													7	28					0	0	1	0	0
TMX1	81542	broad.mit.edu	37	14	51721153	51721153	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:51721153T>A	ENST00000457354.2	+	8	884	c.759T>A	c.(757-759)agT>agA	p.S253R		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	253					anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						AAGCTGAAAGTAAAGAAGGAA	0.363000													4	141					0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334715	122334715	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:122334715G>A	ENST00000398250.1	+	6	870	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R110Q|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R163Q|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R173Q|PPAPDC1A_ENST00000496437.1_3'UTR	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	173					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GAGAGTGGGCGGGGAAAGAGC	0.577000													5	325					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103317335	103317335	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:103317335A>T	ENST00000520539.1	-	21	3411	c.2805T>A	c.(2803-2805)aaT>aaA	p.N935K	UBR5_ENST00000220959.4_Missense_Mutation_p.N935K|UBR5_ENST00000521922.1_Missense_Mutation_p.N929K	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	935					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGTTTCTTTATTGCTGGTTG	0.358000													7	303					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89577156	89577156	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:89577156G>A	ENST00000402738.1	+	9	1278	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	HERC3_ENST00000264345.3_Missense_Mutation_p.A347T|HERC3_ENST00000407637.1_Missense_Mutation_p.A347T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	347					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTACTGGGCTGCCCACAGTGG	0.433000													5	161					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082937	9082937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:9082937C>A	ENST00000397910.4	-	1	9081	c.8878G>T	c.(8878-8880)Gaa>Taa	p.E2960*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2961	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						TCAGGGGTTTCAGTAAAACCT	0.502000													8	275					0.000442599	0.000457063	1	1	0
ASPM	259266	broad.mit.edu	37	1	197093276	197093276	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:197093276A>T	ENST00000367409.4	-	13	3610	c.3354T>A	c.(3352-3354)gaT>gaA	p.D1118E	ASPM_ENST00000367408.1_Missense_Mutation_p.D368E|ASPM_ENST00000294732.7_Missense_Mutation_p.D1118E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1118	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATTTACCCAATCCATCAATA	0.274000													10	68					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121587100	121587100	+	Silent	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:121587100T>A	ENST00000361976.2	+	20	3373	c.3207T>A	c.(3205-3207)tcT>tcA	p.S1069S	INPP5F_ENST00000369080.3_Silent_p.S459S	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1069							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GAGCAGTCTCTCCCTTTGCCA	0.478000													53	161					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160263026	160263026	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:160263026T>A	ENST00000241704.7	-	27	2984		c.e27-2		COPA_ENST00000368069.3_Splice_Site	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha						COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACACCAGATCTAACAAGAAAC	0.418000													5	185					0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67666418	67666418	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:67666418A>T	ENST00000347310.5	+	5	662		c.e5-1		IL23R_ENST00000371002.1_Splice_Site|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTTGTTTTAAGTTTAGAGAC	0.373000													6	124					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129841933	129841933	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:129841933T>A	ENST00000397622.2	-	5	454		c.e5-2		TMEM209_ENST00000473456.1_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Splice_Site|TMEM209_ENST00000336804.8_Splice_Site	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209							integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					TCTGTACAACTAGAAGGAAAA	0.388000													4	132					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32944606	32944606	+	Missense_Mutation	SNP	C	C	G	rs80359087		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:32944606C>G	ENST00000544455.1	+	19	8626	c.8399C>G	c.(8398-8400)cCt>cGt	p.P2800R	BRCA2_ENST00000380152.3_Missense_Mutation_p.P2800R	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2800					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACCCTAGACCTTTTCCTCTG	0.383000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	294					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874692	24874692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:24874692G>T	ENST00000396432.2	-	26	5012	c.4526C>A	c.(4525-4527)tCa>tAa	p.S1509*		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1508					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTTGTGTTTTGAGTTGTGTGG	0.488000													6	682					1.6384e-10	1.72578e-10	1	1	0
CCDC163P	126661	broad.mit.edu	37	1	45962262	45962262	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:45962262G>C	ENST00000490551.3	-	4	660	c.296C>G	c.(295-297)gCt>gGt	p.A99G	CCDC163P_ENST00000488405.2_Missense_Mutation_p.A99G|CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000432082.1_Missense_Mutation_p.A99G																cervix(1)|endometrium(1)	2						TCGTCCCTCAGCCAGCTGTTT	0.527000													14	38					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76380267	76380267	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:76380267A>T	ENST00000370014.3	+	11	1843		c.e11-1		SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000447266.2_Splice_Site|SENP6_ENST00000327284.8_Splice_Site	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTCCTTTTTAGTTTGGCAAT	0.323000													8	68					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764578	110764578	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:110764578A>G	ENST00000451085.1	+	4	2796	c.1750A>G	c.(1750-1752)Aat>Gat	p.N584D	IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N584D|LRRN3_ENST00000422987.3_Missense_Mutation_p.N584D|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	584	Fibronectin type-III.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACTCATCTGAATCCATCAAC	0.363000													8	46					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87703387	87703387	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:87703387C>T	ENST00000436978.1	+	37	6491	c.6011C>T	c.(6010-6012)gCc>gTc	p.A2004V	PTPN13_ENST00000316707.6_Missense_Mutation_p.A1808V|PTPN13_ENST00000411767.2_Missense_Mutation_p.A1999V|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2004V|PTPN13_ENST00000427191.2_Missense_Mutation_p.A1980V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1999						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGCCAGCCTGCCCTCACTCCT	0.453000													5	254					0	0	1	0	0
EFCC1	79825	broad.mit.edu	37	3	128757716	128757716	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:128757716C>T	ENST00000436022.2	+	7	1633	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	EFCC1_ENST00000480450.1_Silent_p.L545L	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		GCTGAGCACGCTGGACGCTTT	0.547000													19	88					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53880961	53880961	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:53880961G>T	ENST00000547035.1	-	2	419	c.215C>A	c.(214-216)cCc>cAc	p.P72H	MAP3K12_ENST00000547151.1_Intron|MAP3K12_ENST00000547488.1_Missense_Mutation_p.P72H|MAP3K12_ENST00000267079.2_Intron			Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	46					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGGCTCAGGGGGCGGCTCTCC	0.647000													6	54					1.33987e-11	1.4208e-11	1	1	0
CASP9	842	broad.mit.edu	37	1	15844782	15844782	+	Translation_Start_Site	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:15844782C>A	ENST00000375890.4	-	0	252				CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000546424.1_Missense_Mutation_p.G81C|CASP9_ENST00000333868.5_Missense_Mutation_p.G81C|CASP9_ENST00000348549.5_Missense_Mutation_p.G81C	NM_032996.2	NP_127463.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase						activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ATGTCCTGGCCTGTGTCCTCT	0.542000													7	182					0.307466	0.308442	1	1	0
MACF1	23499	broad.mit.edu	37	1	39908161	39908161	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:39908161T>C	ENST00000564288.1	+	77	19803	c.19026T>C	c.(19024-19026)caT>caC	p.H6342H	MACF1_ENST00000567887.1_Silent_p.H6379H|MACF1_ENST00000545844.1_Silent_p.H4283H|MACF1_ENST00000289893.4_Silent_p.H4785H|MACF1_ENST00000317713.7_Silent_p.H4283H|MACF1_ENST00000539005.1_Silent_p.H4153H|MACF1_ENST00000361689.2_Silent_p.H4283H|MACF1_ENST00000372915.3_Silent_p.H6241H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6350					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)			GGCTGACTCATACCGAAGAGT	0.438000													12	159					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71418744	71418744	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:71418744T>A	ENST00000414819.1	-	5	1427		c.e5-2		PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000356595.4_Splice_Site|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370932.2_Intron	NM_001126044.1	NP_001119516.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)						cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	gcagattaactaaccacagat	0.313000													9	150					0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95775710	95775710	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:95775710A>T	ENST00000272418.2	-	4	562	c.354T>A	c.(352-354)acT>acA	p.T118T		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	118					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCTTCTTTTTAGTTCTTTTGC	0.393000													8	174					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630355	74630355	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:74630355G>A	ENST00000358632.4	-	9	1745	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	CYP11A1_ENST00000268053.6_Silent_p.S508S|CYP11A1_ENST00000419019.2_Silent_p.S350S	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	508					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AGAAGGTGAAGGAGATGGGCT	0.557000													4	341					0	0	1	0	0
ALG1	56052	broad.mit.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:5129756A>G	ENST00000588623.1	+	10	1676	c.576A>G	c.(574-576)gaA>gaG	p.E192E	ALG1_ENST00000262374.5_Silent_p.E303E|ALG1_ENST00000544428.1_Silent_p.E192E			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	303					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	p.E303E(3)		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)				CAGAGTTTGAACAACTGACTC	0.443000													5	157					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246594	113246594	+	Splice_Site	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:113246594A>C	ENST00000297405.5	-	68	10984	c.10740_splice	c.e68+1	p.F3580_splice	CSMD3_ENST00000352409.3_Splice_Site_p.F3510_splice|CSMD3_ENST00000343508.3_Splice_Site_p.F3540_splice|CSMD3_ENST00000455883.2_Splice_Site_p.F3411_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3580						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTATACTTACAAAGCCATCCA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			82	132					0	0	1	0	0
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567000													5	538					0	0	1	0	0
IL17RB	55540	broad.mit.edu	37	3	53898830	53898830	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:53898830T>A	ENST00000288167.3	+	11	1013	c.1004T>A	c.(1003-1005)cTt>cAt	p.L335H		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	335	SEFIR.				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		ATTAAGGTTCTTGTGGTTTAC	0.398000													105	292					0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23937652	23937652	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr18:23937652A>T	ENST00000269142.5	+	14	3314		c.e14-1		TAF4B_ENST00000578121.1_Splice_Site	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa						transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCCGTCTTCTAGTTACAGCAA	0.383000													4	81					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198108	15198108	+	Missense_Mutation	SNP	G	G	A	rs146090785	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:15198108G>A	ENST00000209540.2	+	1	318	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CTCCACCACCGTCCCCAAGAT	0.542000													52	109					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													6	279					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231298765	231298765	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:231298765C>T	ENST00000444294.3	+	1	908	c.50C>T	c.(49-51)cCt>cTt	p.P17L	TRIM67_ENST00000449018.3_Missense_Mutation_p.P17L|TRIM67_ENST00000366653.5_Missense_Mutation_p.P17L|TRIM67_ENST00000366652.2_Missense_Mutation_p.P17L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	17						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TTTCGGGAGCCTATCATCCTG	0.672000													5	14					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15822749	15822749	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:15822749G>A	ENST00000281172.5	-	5	651	c.215C>T	c.(214-216)aCc>aTc	p.T72I	EPS8_ENST00000543612.1_Missense_Mutation_p.T72I|EPS8_ENST00000543523.1_Missense_Mutation_p.T72I	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	72	PH; first part.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CAGGACAAAGGTAGTCAAGTG	0.348000													14	57					0	0	1	0	0
AS3MT	57412	broad.mit.edu	37	10	104638240	104638240	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:104638240C>A	ENST00000369880.3	+	8	792	c.715C>A	c.(715-717)Caa>Aaa	p.Q239K	C10ORF32_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	239					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CATTACAATTCAAAACAAGGA	0.408000													6	291					1.6384e-10	1.72578e-10	1	1	0
PHF2	5253	broad.mit.edu	37	9	96415638	96415638	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:96415638C>T	ENST00000359246.4	+	6	1147	c.780C>T	c.(778-780)caC>caT	p.H260H	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	260	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 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			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCTGGTACCACGTGCTCAAGG	0.602000													17	54					0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28858360	28858360	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:28858360T>A	ENST00000373833.6	+	6	404	c.119T>A	c.(118-120)cTa>cAa	p.L40Q	RCC1_ENST00000373831.3_Missense_Mutation_p.L71Q|RCC1_ENST00000373832.1_Missense_Mutation_p.L40Q|RCC1_ENST00000398958.2_Missense_Mutation_p.L40Q			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	40					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCTGACACTAGGCCAGGGC	0.592000													6	33					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70348962	70348962	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:70348962A>T	ENST00000333646.6	+	25	3674		c.e25-1		MED12_ENST00000374102.1_Splice_Site|MED12_ENST00000374080.3_Splice_Site	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCTTCCTTTTAGCTTGTAGTG	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	129					0	0	1	0	0
MFAP5	8076	broad.mit.edu	37	12	8802129	8802129	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:8802129C>T	ENST00000359478.2	-	9	564	c.377G>A	c.(376-378)cGt>cAt	p.R126H	MFAP5_ENST00000540087.1_Missense_Mutation_p.R116H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R101H|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000396549.2_Missense_Mutation_p.R116H|MFAP5_ENST00000543369.1_Missense_Mutation_p.R104H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	126						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ACAGACAAGACGAGAGCAGAT	0.443000													88	397					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	630069	630069	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:630069T>C	ENST00000588649.2	-	3	377	c.293A>G	c.(292-294)gAt>gGt	p.D98G		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	98					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GAGGCTACCATCTCCACTGCC	0.657000													4	44					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121668608	121668608	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:121668608A>T	ENST00000393386.2	+	14	5402	c.4991A>T	c.(4990-4992)aAa>aTa	p.K1664I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.K804I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1664					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATTTCCAGGAAATGCTTCCAG	0.353000													44	147					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458407	20458407	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:20458407C>T	ENST00000426804.1	-	1	3379	c.2895G>A	c.(2893-2895)acG>acA	p.T965T		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GGCAGGCTTCCGTCTTGGTAT	0.607000													11	59					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	30986144	30986144	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:30986144C>T	ENST00000318217.5	-	17	2638	c.2334G>A	c.(2332-2334)acG>acA	p.T778T	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.T778T|MYO1D_ENST00000394649.4_Silent_p.T690T	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	778						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TATTGAAAATCGTCTGCAGGG	0.498000											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	218					0	0	1	0	0
UGT1A6	54578	broad.mit.edu	37	2	234602487	234602487	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:234602487T>A	ENST00000305139.6	+	1	976	c.837T>A	c.(835-837)tgT>tgA	p.C279*	UGT1A6_ENST00000406651.1_Nonsense_Mutation_p.C12*|UGT1A6_ENST00000373424.1_Nonsense_Mutation_p.C12*|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_3'UTR|AC114812.8_ENST00000439336.1_RNA	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GTATCAACTGTAAGAAGAGGA	0.448000													10	1852					0	0	1	0	0
GPR137C	283554	broad.mit.edu	37	14	53101774	53101774	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:53101774A>T	ENST00000321662.6	+	7	1231	c.1231A>T	c.(1231-1233)Act>Tct	p.T411S		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	411						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTTGCTCTTTACTTGTAGTAA	0.418000													5	123					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47234001	47234001	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:47234001C>A	ENST00000391910.3	-	6	1317	c.867G>T	c.(865-867)aaG>aaT	p.K289N	CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.K170N|STRN4_ENST00000263280.6_Missense_Mutation_p.K289N			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	289						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TCACACGCTGCTTCTTGTGCT	0.637000													5	354					0.014758	0.0150436	1	1	0
IGKV2-24	28923	broad.mit.edu	37	2	89475811	89475811	+	RNA	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:89475811G>A	ENST00000484817.1	-	0	390																											ACCACTGTGTGAGGAAATTGT	0.507000													26	192					0	0	1	0	0
GABPB2	126626	broad.mit.edu	37	1	151089911	151089911	+	Silent	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:151089911T>A	ENST00000368918.3	+	8	1297	c.966T>A	c.(964-966)atT>atA	p.I322I	GABPB2_ENST00000368916.1_Silent_p.I284I|GABPB2_ENST00000467551.1_Intron|GABPB2_ENST00000368917.1_Silent_p.I284I	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	322					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGACTGTAATTAAAGAGGAAG	0.398000													4	97					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001737	98001737	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:98001737G>A	ENST00000355273.2	+	1	6	c.6G>A	c.(4-6)tcG>tcA	p.S2S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CAGGGATGTCGAATGAGGACA	0.398000													47	218					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20854280	20854280	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:20854280A>T	ENST00000381552.1	+	3	526	c.158A>T	c.(157-159)tAc>tTc	p.Y53F	SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.Y53F|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.Y53F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.Y53F			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	53					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TCTTTTGTTTACTTTGCCAAA	0.418000													4	87					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878537	24878537	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:24878537G>A	ENST00000382554.3	+	4	1855	c.1537G>A	c.(1537-1539)Gct>Act	p.A513T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	513					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAGGGACCCGCTCCAGTGCT	0.572000													15	82					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85991773	85991773	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:85991773C>T	ENST00000372105.3	-	4	1803	c.1782G>A	c.(1780-1782)gaG>gaA	p.E594E		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	594						integral to endoplasmic reticulum membrane		p.E594D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCTGTCAGCCTCGCTGACAC	0.562000													6	43					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135278059	135278059	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:135278059A>T	ENST00000334270.2	-	2	189	c.150T>A	c.(148-150)acT>acA	p.T50T		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	50	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTTCCTCCTAGTTATTTGAG	0.378000													4	101					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:125647396T>C	ENST00000485843.1	+	0	541					NR_024251.1																						TGTTTCCCTATGAAGAGCACT	0.502000													9	424					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215955404	215955404	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:215955404C>G	ENST00000366943.2	-	54	11106	c.10720G>C	c.(10720-10722)Ggc>Cgc	p.G3574R	USH2A_ENST00000307340.3_Missense_Mutation_p.G3574R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3574	Fibronectin type-III 20.				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)		GTGGCACAGCCAGCAACCGTG	0.438000										HNSCC(13;0.011)			36	166					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000397426.1_Splice_Site|FBXO7_ENST00000382058.3_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353000													5	89					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18729478	18729478	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:18729478A>T	ENST00000513874.1	-	20	3292	c.3153T>A	c.(3151-3153)atT>atA	p.I1051I	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	849										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGCTCTTGGTAATTGTCTCTC	0.517000													6	345					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	239					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150873237	150873237	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:150873237G>A	ENST00000422024.1	-	5	1626	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	ASB10_ENST00000377867.3_Missense_Mutation_p.R441C|ASB10_ENST00000420175.2_Missense_Mutation_p.R456C|ASB10_ENST00000434669.1_Missense_Mutation_p.R463C|ASB10_ENST00000275838.1_Missense_Mutation_p.R418C	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	456					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGGTAGCGGAGCAGGCGC	0.667000													7	25					0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158376782	158376782	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:158376782T>A	ENST00000486715.1	+	9	1512	c.1155T>A	c.(1153-1155)taT>taA	p.Y385*	GFM1_ENST00000264263.5_Nonsense_Mutation_p.Y404*|GFM1_ENST00000478576.1_Nonsense_Mutation_p.Y385*	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	385					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ACACCATCTATAACACAAGGA	0.453000													5	137					0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967381	31967381	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:31967381A>T	ENST00000357886.4	-	9	1188	c.1035T>A	c.(1033-1035)taT>taA	p.Y345*	CDK5RAP1_ENST00000544843.1_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Nonsense_Mutation_p.Y331*|CDK5RAP1_ENST00000452723.3_Nonsense_Mutation_p.Y241*|CDK5RAP1_ENST00000339269.5_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	345					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GCTTGGTTTTATAGTTGGTGG	0.473000													5	152					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113649559	113649559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:113649559A>T	ENST00000358160.4	+	11	1582		c.e11-1		GRAMD1C_ENST00000472026.1_Splice_Site|GRAMD1C_ENST00000440446.2_Splice_Site|GRAMD1C_ENST00000452134.2_Splice_Site|GRAMD1C_ENST00000479212.1_Splice_Site	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C							integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGTTGTTGTTAGATGTAGTAT	0.343000													5	132					0	0	1	0	0
HIAT1	64645	broad.mit.edu	37	1	100524220	100524220	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:100524220A>T	ENST00000370152.3	+	3	316		c.e3-1		RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1						transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTTATTCTTTAGGTATTACAT	0.274000													6	122					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19603110	19603110	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:19603110A>T	ENST00000438132.3	+	8	954		c.e8-1		C16orf62_ENST00000538853.1_Splice_Site|C16orf62_ENST00000543152.1_Intron|C16orf62_ENST00000542263.1_Splice_Site|C16orf62_ENST00000251143.5_Splice_Site|C16orf62_ENST00000448695.1_Intron|C16orf62_ENST00000417362.2_Splice_Site	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CTCTTTTTTTAGTGTTCAAAG	0.358000													4	140					0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49719983	49719983	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:49719983C>T	ENST00000296456.5	+	19	2097	c.1697C>T	c.(1696-1698)gCa>gTa	p.A566V	APEH_ENST00000438011.1_Missense_Mutation_p.A566V	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	566					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGCAGTTTGCAGTGGAACAG	0.577000													4	112					0	0	1	0	0
UBE2W	55284	broad.mit.edu	37	8	74742650	74742650	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:74742650A>G	ENST00000517608.1	-	2	160	c.160T>C	c.(160-162)Tta>Cta	p.L54L	UBE2W_ENST00000419880.3_Silent_p.L65L|UBE2W_ENST00000602969.1_Silent_p.L36L|UBE2W_ENST00000602593.1_Silent_p.L25L|UBE2W_ENST00000453587.2_Silent_p.L25L|RP11-463D19.2_ENST00000358757.5_Silent_p.L25L			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	25					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			TTCTCATTTAAGGTCATTCCA	0.328000													4	255					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34649099	34649099	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:34649099G>T	ENST00000537011.1	+	8	3272	c.2890G>T	c.(2890-2892)Gtg>Ttg	p.V964L	NUTM1_ENST00000438749.3_Missense_Mutation_p.V954L|NUTM1_ENST00000333756.4_Missense_Mutation_p.V936L					NUT midline carcinoma, family member 1																		AGAAGGCAGGGTGGATCCTGA	0.493000													4	289					0.000602214	0.000617856	1	1	0
TNFSF10	8743	broad.mit.edu	37	3	172224541	172224541	+	Missense_Mutation	SNP	A	A	T	rs142608031		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:172224541A>T	ENST00000241261.2	-	5	709	c.587T>A	c.(586-588)aTa>aAa	p.I196K	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	196					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	p.I196K(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTTTTCTTTTATTTCCTCCTG	0.348000													4	152					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7172402	7172402	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													12	124					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49442951	49442951	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:49442951A>T	ENST00000301067.7	-	12	3956	c.3957T>A	c.(3955-3957)caT>caA	p.H1319Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CACGTCCTCCATGGGCTCCTC	0.572000													6	21					0	0	1	0	0
FFAR4	338557	broad.mit.edu	37	10	95335917	95335917	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:95335917A>T	ENST00000371483.4	+	2	693	c.637A>T	c.(637-639)Act>Tct	p.T213S	FFAR4_ENST00000604414.1_Missense_Mutation_p.T213S|FFAR4_ENST00000371481.4_Missense_Mutation_p.T213S	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		CTCTTTTGTTACTTTGAACTT	0.423000													9	705					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160143468	160143468	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:160143468C>G	ENST00000368081.4	+	13	2423	c.1952C>G	c.(1951-1953)gCt>gGt	p.A651G	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	651					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGAAGTCGCTGCCCGGCTT	0.547000													43	179					0	0	1	0	0
AS3MT	57412	broad.mit.edu	37	10	104638239	104638239	+	Silent	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:104638239T>A	ENST00000369880.3	+	8	791	c.714T>A	c.(712-714)atT>atA	p.I238I	C10ORF32_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	238					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		TCATTACAATTCAAAACAAGG	0.408000													6	290					0	0	1	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038511	14038511	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:14038511G>C	ENST00000380523.4	-	4	476	c.158C>G	c.(157-159)cCa>cGa	p.P53R	GEMIN8_ENST00000398355.3_Missense_Mutation_p.P53R|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	53					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TAAGTACCATGGAAGATTGAA	0.473000													7	266					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584416	179584416	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:179584416G>A	ENST00000589042.1	-	82	24027	c.23803C>T	c.(23803-23805)Cat>Tat	p.H7935Y	TTN_ENST00000591111.1_Missense_Mutation_p.H7618Y|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.H6691Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7618	Ig-like 61.						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)			GTAATGTGATGTTTGCTGTCT	0.403000													11	151					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96768447	96768447	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:96768447T>A	ENST00000359933.4	-	34	5931		c.e34-2		ATG2B_ENST00000261834.5_Splice_Site	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B											breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CACTGTCAACTACAAGGCAAG	0.408000													5	113					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31195528	31195528	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:31195528A>T	ENST00000254108.7	+	5	440		c.e5-1		FUS_ENST00000568685.1_Splice_Site|FUS_ENST00000380244.3_Splice_Site	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma						cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGTTTTCCCTAGTTACGGTAG	0.507000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								5	208					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3155065	3155065	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr18:3155065C>T	ENST00000400569.3	-	11	1856	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	MYOM1_ENST00000261606.7_Missense_Mutation_p.G508E|MYOM1_ENST00000356443.4_Missense_Mutation_p.G508E			P52179	MYOM1_HUMAN	myomesin 1	508						striated muscle myosin thick filament	structural constituent of muscle	p.G508E(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGCTGGGGCTCCTTCAATCTC	0.527000													22	118					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64898248	64898248	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:64898248A>T	ENST00000555709.1	+	14	1698		c.e14-1		CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Splice_Site|MTHFD1_ENST00000216605.7_Splice_Site|MTHFD1_ENST00000545908.1_Splice_Site	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase						folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GTTCTTTTGTAGTTTAATCTC	0.433000													4	59					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212180017	212180017	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:212180017A>T	ENST00000366994.3	-	7	947	c.843T>A	c.(841-843)aaT>aaA	p.N281K	INTS7_ENST00000366992.3_Missense_Mutation_p.N281K|INTS7_ENST00000440600.2_Missense_Mutation_p.N232K|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.N281K	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	281					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GTGGTGTTTTATTAGCAAGTA	0.294000													4	89					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15967631	15967631	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:15967631G>T	ENST00000350896.3	-	9	1327	c.1130C>A	c.(1129-1131)tCa>tAa	p.S377*	MSR1_ENST00000262101.5_Nonsense_Mutation_p.S440*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.S377*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.S458*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	440	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTCAGAATGTGAACAGGCTCT	0.378000													21	93					3.8784e-16	4.15449e-16	1	1	0
DCAF13	25879	broad.mit.edu	37	8	104427735	104427735	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:104427735T>G	ENST00000297579.5	+	1	794	c.517T>G	c.(517-519)Tta>Gta	p.L173V	DCAF13_ENST00000521716.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521971.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000519682.1_Missense_Mutation_p.L17V	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	21					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAAGTTGGACTTACAGAGAGG	0.567000													44	39					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55448374	55448374	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:55448374C>G	ENST00000360586.3	-	16	2012	c.1947G>C	c.(1945-1947)atG>atC	p.M649I	WDHD1_ENST00000420358.2_Missense_Mutation_p.M526I|WDHD1_ENST00000421192.1_Missense_Mutation_p.M526I|WDHD1_ENST00000359167.4_Missense_Mutation_p.M167I	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	649						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTCTGTTAAGCATTCGAACAA	0.403000													23	84					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142740313	142740313	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:142740313A>T	ENST00000397933.2	+	10	868		c.e10-1		U2SURP_ENST00000473835.2_Splice_Site|U2SURP_ENST00000493598.2_Splice_Site			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TTTCTGCCCTAGTTCTTGATG	0.328000													3	52					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	by1000genomes	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:53945909T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCCTGACTCTGCCTGAGGCC	0.562000													5	251					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54610216	54610216	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:54610216G>A	ENST00000371330.1	-	2	1197	c.350C>T	c.(349-351)tCc>tTc	p.S117F	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	117	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GACATGCCAGGAGGAGGTGAA	0.602000													23	68					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137947854	137947854	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:137947854T>A	ENST00000469044.1	+	6	799		c.e6+2		ARMC8_ENST00000471453.1_Splice_Site|ARMC8_ENST00000538260.1_Intron|ARMC8_ENST00000470821.1_Splice_Site|ARMC8_ENST00000461822.1_Splice_Site|ARMC8_ENST00000358441.2_Splice_Site|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000489213.1_Splice_Site|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000491704.1_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8								binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGCTGTAAAGTAAGAACCAGA	0.418000													4	64					0	0	1	0	0
VDAC3	7419	broad.mit.edu	37	8	42260890	42260890	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:42260890T>C	ENST00000392935.3	+	8	759	c.616T>C	c.(616-618)Tcc>Ccc	p.S206P	VDAC3_ENST00000521158.1_Missense_Mutation_p.S206P|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000022615.4_Missense_Mutation_p.S205P	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	205					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	GATTGAAACATCCATAAACCT	0.398000													7	252					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	49962953	49962953	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:49962953G>C	ENST00000281631.5	+	1	182	c.24G>C	c.(22-24)gaG>gaC	p.E8D	PARP8_ENST00000503665.1_Missense_Mutation_p.E8D|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000513738.1_Missense_Mutation_p.E8D|PARP8_ENST00000514067.2_Missense_Mutation_p.E8D|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.E8D|PARP8_ENST00000503750.2_Missense_Mutation_p.E8D	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	8						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAGGCAAGAGCGAATTCAGA	0.517000													4	186					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197111787	197111787	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:197111787A>T	ENST00000367409.4	-	3	1851	c.1595T>A	c.(1594-1596)aTa>aAa	p.I532K	ASPM_ENST00000294732.7_Missense_Mutation_p.I532K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	532					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGATTATTTATTACTTTTTC	0.318000													4	101					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27301762	27301762	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:27301762C>T	ENST00000397501.1	+	28	2996	c.2188C>T	c.(2188-2190)Ctc>Ttc	p.L730F	PTK2B_ENST00000517339.1_Missense_Mutation_p.L730F|PTK2B_ENST00000397497.4_Missense_Mutation_p.L476F|PTK2B_ENST00000346049.5_Missense_Mutation_p.L730F|PTK2B_ENST00000338238.4_Missense_Mutation_p.L730F|PTK2B_ENST00000544172.1_Missense_Mutation_p.L730F|PTK2B_ENST00000420218.2_Missense_Mutation_p.L730F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	730	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GCAAACCAACCTCCTGGCTCC	0.537000													15	96					0	0	1	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841809	4841809	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:4841809G>A	ENST00000225665.7	-	4	884	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	SLC25A11_ENST00000544061.2_Missense_Mutation_p.R131W	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	182					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						CCACTCACCCGCCACAGTGTG	0.602000													3	141					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408000													8	215					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42022431	42022431	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:42022431A>T	ENST00000264451.6	+	4	514		c.e4-1			NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTTTGTTTAGTTAAAGCAG	0.348000													9	92					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111078308	111078308	+	Silent	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:111078308T>A	ENST00000262839.2	-	7	2655	c.1737A>T	c.(1735-1737)gtA>gtT	p.V579V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	579					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAAGGCCAAATACAGACCAGA	0.388000													10	1052					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42232398	42232398	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:42232398A>T	ENST00000373030.3	+	4	337		c.e4-1		IFT52_ENST00000373039.4_Splice_Site	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)							intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCTTTGTGTAGTTTGAAATC	0.328000													5	149					0	0	1	0	0
MANEAL	149175	broad.mit.edu	37	1	38260262	38260262	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:38260262G>T	ENST00000373045.6	+	1	789	c.408G>T	c.(406-408)aaG>aaT	p.K136N	MANEAL_ENST00000397631.3_Missense_Mutation_p.K136N	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	136						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGGACCCCAAGATCTCGGCCA	0.692000													3	9					2.56e-06	2.67868e-06	1	1	0
HS6ST2	90161	broad.mit.edu	37	X	131762617	131762617	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:131762617A>G	ENST00000370836.2	-	4	1867	c.1452T>C	c.(1450-1452)gaT>gaC	p.D484D	HS6ST2_ENST00000370837.1_Silent_p.D338D|HS6ST2_ENST00000521489.1_Silent_p.D524D|HS6ST2_ENST00000370833.2_Silent_p.D378D|HS6ST2_ENST00000406696.3_Silent_p.D210D	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	484						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ACAACTCCATATCCAGAAAAT	0.428000													6	563					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63824841	63824841	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:63824841A>T	ENST00000558285.1	+	1	137	c.36A>T	c.(34-36)ttA>ttT	p.L12F	USP3_ENST00000539772.1_Intron|USP3_ENST00000380324.3_Intron|USP3_ENST00000536001.1_Intron|USP3_ENST00000540797.1_Intron|USP3_ENST00000268049.7_Intron			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	0					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TTTTCTTTTTATTAGTGTGCC	0.368000													5	163					0	0	1	0	0
TGIF1	7050	broad.mit.edu	37	18	3457635	3457635	+	Silent	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr18:3457635G>T	ENST00000472042.1	+	2	1440	c.456G>T	c.(454-456)gtG>gtT	p.V152V	TGIF1_ENST00000400167.2_Silent_p.V152V|TGIF1_ENST00000345133.5_Silent_p.V152V|TGIF1_ENST00000343820.5_Silent_p.V172V|TGIF1_ENST00000407501.2_Silent_p.V172V|TGIF1_ENST00000551541.1_Silent_p.V152V|TGIF1_ENST00000330513.5_Silent_p.V301V|TGIF1_ENST00000548489.2_Silent_p.V186V|TGIF1_ENST00000401449.1_Silent_p.V152V|TGIF1_ENST00000405385.3_Silent_p.V152V			Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	301					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GTCCATCAGTGATCTGCCATA	0.537000													9	87					1.58986e-06	1.66909e-06	1	1	0
RSL1D1	26156	broad.mit.edu	37	16	11935564	11935564	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:11935564A>T	ENST00000571133.1	-	7	915	c.843T>A	c.(841-843)aaT>aaA	p.N281K	RSL1D1_ENST00000542106.1_Missense_Mutation_p.N61K	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	281					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTCTTCTTATTAAGCAAAG	0.383000													4	54					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165946662	165946662	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:165946662A>T	ENST00000360093.3	-	28	6492	c.6001T>A	c.(6001-6003)Taa>Aaa	p.*2001K	SCN3A_ENST00000409101.3_Nonstop_Mutation_p.*1952K|SCN3A_ENST00000540861.1_Nonstop_Mutation_p.*484K|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Nonstop_Mutation_p.*2001K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	0						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTTCTTTTTACTTTTGATTT	0.348000													3	9					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403000													4	452					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858170	9858170	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:9858170A>T	ENST00000396573.2	-	14	3540	c.3231T>A	c.(3229-3231)agT>agA	p.S1077R	GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1077R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1077R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1077R|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S920R|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1077R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1077					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			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)	TGTGGTTCTTACTGTTGTCAG	0.488000													8	345					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185906162	185906162	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:185906162C>T	ENST00000265022.3	-	22	2463	c.1924G>A	c.(1924-1926)Ggg>Agg	p.G642R	DGKG_ENST00000344484.4_Missense_Mutation_p.G617R|DGKG_ENST00000382164.4_Missense_Mutation_p.G603R|DGKG_ENST00000544847.1_Missense_Mutation_p.G583R	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	642					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCCCAACCCCATCACACTGG	0.527000													5	501					0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105800954	105800954	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:105800954T>A	ENST00000369110.3	-	7	910		c.e7-2			NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase						proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ATCAGATAACTAAAAAAGAAA	0.343000													7	103					0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100137322	100137322	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:100137322A>T	ENST00000394897.1	-	2	198	c.116T>A	c.(115-117)aTa>aAa	p.I39K	ADH6_ENST00000237653.7_Missense_Mutation_p.I39K|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394899.2_Missense_Mutation_p.I39K			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	39					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ttttACCTTTATGCGAACTTC	0.393000													4	74					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127527580	127527580	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:127527580T>A	ENST00000284690.3	-	9	2361	c.1871A>T	c.(1870-1872)tAc>tTc	p.Y624F	DHX32_ENST00000284688.6_Missense_Mutation_p.Y543F|BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.Y248F|BCCIP_ENST00000429863.2_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	624						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTGCATAAAGTAACCGGACAG	0.448000													6	771					0	0	1	0	0
MED6	10001	broad.mit.edu	37	14	71067337	71067337	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:71067337G>A	ENST00000256379.5	-	1	47	c.18C>T	c.(16-18)atC>atT	p.I6I	MED6_ENST00000556044.1_5'UTR|MED6_ENST00000554963.1_Silent_p.I6I|MED6_ENST00000430055.2_Silent_p.I6I|MED6_ENST00000440435.2_Silent_p.I6I|CTD-2540L5.5_ENST00000553982.1_lincRNA	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	6					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			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)		GTATACCTCGGATATCCACCG	0.483000													5	10					0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23240270	23240270	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:23240270T>A	ENST00000258742.5	+	7	1437	c.1178T>A	c.(1177-1179)cTa>cAa	p.L393Q		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	393	Interaction with GLE1.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAGATAAACTAACAGTAGAA	0.388000													10	365					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68906539	68906539	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:68906539C>A	ENST00000262340.5	-	6	693	c.640G>T	c.(640-642)Gca>Tca	p.A214S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	214					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AACTCACCTGCTTGCAGTGGT	0.348000													21	116					2.27525e-19	2.45386e-19	1	1	0
CMC4	100272147	broad.mit.edu	37	X	154292310	154292310	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:154292310T>A	ENST00000369484.3	-	2	669		c.e2-2		CMC4_ENST00000369479.1_Splice_Site|MTCP1_ENST00000369476.3_3'UTR	NM_001018024.2	NP_001018024.1			C-x(9)-C motif containing 4																		TCCAGAAAACTAAAACAAGAA	0.338000													4	71					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487519	248487519	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:248487519T>A	ENST00000317965.2	-	1	380	c.352A>T	c.(352-354)Atg>Ttg	p.M118L		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCATAAGACATAACAGCCAAC	0.448000													7	583					0	0	1	0	0
SLC25A17	10478	broad.mit.edu	37	22	41190586	41190586	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:41190586T>A	ENST00000435456.2	-	3	249		c.e3-2		SLC25A17_ENST00000544408.1_Splice_Site|SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000491545.1_Splice_Site	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17						fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TCTCATCAACTACAAGACCAA	0.383000													6	152					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617000													5	145					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767314	105767314	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:105767314T>A	ENST00000374798.3	+	5	471	c.401T>A	c.(400-402)tTa>tAa	p.L134*	CYLC2_ENST00000487798.1_Nonsense_Mutation_p.L134*	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	134	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GAATCAGAATTAaaacaagga	0.318000													4	40					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111020091	111020091	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:111020091C>T	ENST00000262839.2	-	11	3290	c.2372G>A	c.(2371-2373)cGg>cAg	p.R791Q		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	791					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGATTTGGCCCGAGCCCCACC	0.483000													4	601					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611947	42611947	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:42611947A>T	ENST00000276410.2	-	5	750	c.395T>A	c.(394-396)gTa>gAa	p.V132E	CHRNA6_ENST00000534622.1_Missense_Mutation_p.V117E	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	132						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTTGCCTTCTACTTGGAAGTC	0.428000													8	872					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													7	577					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000468592.1_Intron|DCAF17_ENST00000539783.1_Splice_Site	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17							CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358000													12	158					0	0	1	0	0
DHRS7B	25979	broad.mit.edu	37	17	21094259	21094259	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:21094259A>T	ENST00000395511.3	+	7	1092		c.e7-1		DHRS7B_ENST00000579303.1_Splice_Site|DHRS7B_ENST00000581463.1_Intron	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													8	102					0	0	1	0	0
TM6SF1	53346	broad.mit.edu	37	15	83784595	83784595	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:83784595A>T	ENST00000322019.9	+	3	470		c.e3-1		TM6SF1_ENST00000565774.1_Splice_Site|TM6SF1_ENST00000379390.6_Splice_Site|TM6SF1_ENST00000564988.1_Splice_Site|TM6SF1_ENST00000379386.4_Splice_Site			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1							integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TCTTTGCTCTAGTGTATGCAG	0.403000													5	149					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11773280	11773280	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:11773280G>T	ENST00000356957.3	-	13	2836	c.2729C>A	c.(2728-2730)gCc>gAc	p.A910D	TXNDC11_ENST00000283033.5_Missense_Mutation_p.A883D|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	910					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTTTTCTGAGGCATCGGCCAG	0.617000													74	166					4.35598e-54	4.7302e-54	1	1	0
PRRG4	79056	broad.mit.edu	37	11	32852052	32852052	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:32852052A>T	ENST00000257836.3	+	2	231		c.e2-1			NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)							extracellular region|Golgi apparatus|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					tGTTTGTTTTAGTTTGTTTGA	0.423000													4	23					0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517654	20517654	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:20517654G>A	ENST00000375099.3	+	2	684	c.600G>A	c.(598-600)ctG>ctA	p.L200L		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	200	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CAAGGTTGCTGCTTGCTGTTA	0.493000													5	397					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315388	107315388	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:107315388A>T	ENST00000265715.3	+	6	824		c.e6-1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCCTTATCGTAGTTGATATTT	0.398000									Pendred syndrome				6	339					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117672374	117672374	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:117672374A>T	ENST00000317775.6	-	21	3916	c.3231T>A	c.(3229-3231)gcT>gcA	p.A1077A	NOS1_ENST00000338101.4_Silent_p.A1111A|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1077	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGTTACCTAAAGCCGTGTTCC	0.587000													35	113					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961307	30961307	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:30961307C>T	ENST00000399914.1	-	10	1897	c.1376G>A	c.(1375-1377)aGa>aAa	p.R459K	GRIK1_ENST00000309434.7_Missense_Mutation_p.R476K|GRIK1_ENST00000399909.1_Missense_Mutation_p.R459K|GRIK1_ENST00000399913.1_Missense_Mutation_p.R474K|GRIK1_ENST00000389124.2_Missense_Mutation_p.R474K|GRIK1_ENST00000389125.3_Missense_Mutation_p.R459K|GRIK1_ENST00000399907.1_Missense_Mutation_p.R474K|GRIK1_ENST00000535441.1_Missense_Mutation_p.R476K|GRIK1_ENST00000327783.4_Missense_Mutation_p.R474K			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	474					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCCTTCAAATCTGTCATTTCC	0.368000													27	122					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55405931	55405931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:55405931A>T	ENST00000314612.2	+	1	98	c.98A>T	c.(97-99)tAc>tTc	p.Y33F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGTTTTGCTACATTGCTATT	0.363000													5	215					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52160595	52160595	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:52160595A>T	ENST00000282588.6	+	4	753		c.e4-1			NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1						axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCTATTTTTAGTTAATACAT	0.328000													4	64					0	0	1	0	0
TCP1	6950	broad.mit.edu	37	6	160206440	160206440	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:160206440T>C	ENST00000321394.7	-	5	746	c.466A>G	c.(466-468)Atg>Gtg	p.M156V	TCP1_ENST00000420894.2_Missense_Mutation_p.M156V|TCP1_ENST00000392168.2_Start_Codon_SNP_p.M1V|TCP1_ENST00000544255.1_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	156					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TTGGAAGACATGGATGTCTTA	0.373000													4	236					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36315756	36315756	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:36315756A>T	ENST00000373210.3	+	16	2420		c.e16-1		AGO4_ENST00000488778.1_Splice_Site	NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		TGTTTTTTGTAGGTAGGGAAA	0.388000													4	106					0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202401045	202401045	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:202401045T>A	ENST00000439140.1	-	13	1251		c.e13-2		ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000450242.1_Splice_Site|ALS2CR11_ENST00000286195.3_Splice_Site	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATCCAGTAACTAGAAAATACA	0.313000													4	81					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	27031424	27031424	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:27031424A>T	ENST00000376215.5	+	11	1079		c.e11-1		PDSS1_ENST00000376203.5_Splice_Site|PDSS1_ENST00000470978.1_Splice_Site	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1						isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TTTTTTTGTTAGTTCCCAGAA	0.348000													4	63					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369938	56369938	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:56369938G>A	ENST00000301295.6	+	3	1601	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	NLRP4_ENST00000587891.1_Silent_p.Q318Q|NLRP4_ENST00000346986.5_Silent_p.Q393Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	393	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGCAAACCCAGCACCAGCTGA	0.572000													3	91					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451743	55451743	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:55451743G>A	ENST00000588756.1	-	6	930	c.444C>T	c.(442-444)gaC>gaT	p.D148D	NLRP7_ENST00000590030.1_Silent_p.D148D|NLRP7_ENST00000446217.1_Silent_p.D176D|NLRP7_ENST00000340844.2_Silent_p.D148D|NLRP7_ENST00000448121.2_Silent_p.D148D|NLRP7_ENST00000592784.1_Silent_p.D148D|NLRP7_ENST00000328092.5_Silent_p.D148D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	148							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGTGACGTCGTCATGGAAAT	0.493000													368	645					0	0	1	0	0
ZNF302	55900	broad.mit.edu	37	19	35173795	35173795	+	Silent	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:35173795C>A	ENST00000505365.2	+	3	459	c.123C>A	c.(121-123)gtC>gtA	p.V41V	ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000457781.2_Silent_p.V41V|ZNF302_ENST00000507959.1_Silent_p.V41V|ZNF302_ENST00000423823.2_Silent_p.V41V|ZNF302_ENST00000505242.1_Silent_p.V41V|ZNF302_ENST00000446502.2_Silent_p.V85V			Q9NR11	ZN302_HUMAN	zinc finger protein 302	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAACCTGGTCTCTGTAGGTA	0.453000													6	263					0.217242	0.218626	1	1	0
DCAF11	80344	broad.mit.edu	37	14	24587957	24587957	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:24587957A>T	ENST00000446197.3	+	8	1451		c.e8-1		DCAF11_ENST00000396936.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000559115.1_Splice_Site	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11							CUL4 RING ubiquitin ligase complex	protein binding										TGCTTCTCTTAGTTCATATCT	0.463000													8	291					0	0	1	0	0
IPMK	253430	broad.mit.edu	37	10	59955942	59955942	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:59955942T>C	ENST00000373935.3	-	6	1468	c.1146A>G	c.(1144-1146)cgA>cgG	p.R382R		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	382						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AATCTATCATTCGCACTTCTA	0.373000													3	271					0	0	1	0	0
ZAK	51776	broad.mit.edu	37	2	174055621	174055621	+	Splice_Site	SNP	A	A	T	rs67587107		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:174055621A>T	ENST00000338983.3	+	6	610		c.e6-1		MLTK_ENST00000409176.2_Splice_Site|MLTK_ENST00000539448.1_Splice_Site|MLTK_ENST00000375213.3_Splice_Site|MLTK_ENST00000480606.1_Splice_Site|MLTK_ENST00000431503.2_Splice_Site|MLK7-AS1_ENST00000419609.1_RNA|MLK7-AS1_ENST00000422703.1_RNA	NM_133646.2	NP_598407.1																					TTCTTTTTTTAGTTGTTATAG	0.279000													4	52					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124683	86124683	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:86124683C>T	ENST00000394518.2	+	7	3479	c.3384C>T	c.(3382-3384)gcC>gcT	p.A1128A	AKAP13_ENST00000361243.2_Silent_p.A1128A	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1128					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAAGAATGCCGTTCTAGGTT	0.488000													25	179					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962088	34962088	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:34962088C>T	ENST00000329357.5	+	1	1176	c.1140C>T	c.(1138-1140)taC>taT	p.Y380Y		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	380										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTGGTAAATACCATTTTTGGG	0.552000													23	80					0	0	1	0	0
TRMT12	55039	broad.mit.edu	37	8	125463208	125463208	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:125463208A>T	ENST00000328599.3	+	1	161	c.40A>T	c.(40-42)Agt>Tgt	p.S14C	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	14					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGAGAGAGAAAGTGGGAAGCC	0.502000													4	316					0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738038	19738038	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:19738038A>T	ENST00000222567.5	-	4	988	c.918T>A	c.(916-918)caT>caA	p.H306Q		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	306	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TTTTCTTTTTATGGTCACTTT	0.393000													6	239					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20388869	20388869	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:20388869A>T	ENST00000315915.4	+	1	129	c.104A>T	c.(103-105)tAt>tTt	p.Y35F		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGTGTTGTATACAGTCATT	0.403000													8	528					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62288627	62288627	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:62288627T>C	ENST00000371158.2	+	15	1808	c.1694T>C	c.(1693-1695)aTt>aCt	p.I565T	INADL_ENST00000316485.6_Missense_Mutation_p.I565T	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	565	PDZ 4.				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						CTGCTGCCTATTCACACTCTG	0.428000													97	298					0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201987	248201987	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:248201987T>C	ENST00000366479.2	+	1	514	c.418T>C	c.(418-420)Tgt>Cgt	p.C140R	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAAAAGAGTGTGTGTGATGAT	0.448000													130	477					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76369561	76369561	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:76369561G>A	ENST00000357063.3	+	6	1758	c.498G>A	c.(496-498)gtG>gtA	p.V166V	LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000377534.3_Silent_p.V166V|LMO7_ENST00000526202.1_Silent_p.V75V|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000341547.4_Silent_p.V166V|RP11-29G8.3_ENST00000563635.1_RNA			Q8WWI1	LMO7_HUMAN	LIM domain 7	166	CH.					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)		ACAGGAGAGTGAAAAATGTAA	0.313000													22	102					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223782769	223782769	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:223782769A>T	ENST00000357430.3	+	6	1093	c.562A>T	c.(562-564)Aca>Tca	p.T188S	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Missense_Mutation_p.T188S	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								7	152					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102822797	102822797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:102822797C>T	ENST00000260302.3	-	5	771	c.743G>A	c.(742-744)gGc>gAc	p.G248D	MMP13_ENST00000340273.4_Missense_Mutation_p.G248D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	248					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.G248D(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTGGCTTTTGCCGGTGTAGGT	0.448000													6	621					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32996124	32996124	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:32996124T>C	ENST00000070846.6	-	6	1526	c.1502A>G	c.(1501-1503)gAc>gGc	p.D501G	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	501					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					accatgttggtcaggctggtc	0.582000													3	16					0	0	1	0	0
DERL3	91319	broad.mit.edu	37	22	24179339	24179339	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:24179339T>C	ENST00000404056.1	-	5	463	c.445A>G	c.(445-447)Att>Gtt	p.I149V	DERL3_ENST00000476077.1_Missense_Mutation_p.I176V|DERL3_ENST00000318109.7_Missense_Mutation_p.I176V|DERL3_ENST00000406855.3_Missense_Mutation_p.I176V			Q96Q80	DERL3_HUMAN	derlin 3	176			F -> L (in dbSNP:rs3177243).		endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						CCCACCGCAATCCCTGTGAGA	0.632000													3	27					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88967931	88967931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													8	205					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Silent_p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572000													4	319					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89712017	89712017	+	Splice_Site	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:89712017G>A	ENST00000371953.3	+	6	1991		c.e6+1		PTEN_ENST00000472832.1_Splice_Site	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|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)		GGAACTTGCAGTAAGTGCTTG	0.343000		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)			81	414					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72139063	72139063	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:72139063A>T	ENST00000555818.1	+	9	3177		c.e9-1		SIPA1L1_ENST00000358550.2_Splice_Site|SIPA1L1_ENST00000537413.1_Splice_Site|SIPA1L1_ENST00000381232.3_Splice_Site	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1						actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTCCTTGTCTAGTTTGTTTCA	0.433000													8	211					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37756812	37756812	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:37756812C>A	ENST00000330843.4	-	1	160	c.148G>T	c.(148-150)Gag>Tag	p.E50*	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Nonsense_Mutation_p.E50*	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	50	C2.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCGTACTTCTCCTTGCCCACC	0.736000													5	21					0.217242	0.218626	1	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52747336	52747336	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:52747336T>C	ENST00000287727.3	+	10	3045	c.2873T>C	c.(2872-2874)gTg>gCg	p.V958A	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.V899A|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.V958A	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	958					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TCTGTAGATGTGAACAGGAAG	0.373000													9	124					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694601	141694601	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:141694601G>A	ENST00000344120.4	-	3	328	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SPRY4_ENST00000434127.2_Missense_Mutation_p.R25W	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	25					multicellular organismal development	cytoplasm|ruffle membrane	protein binding	p.R48W(1)		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)			TGGGACATCCGGCTGTCAAGA	0.602000									Testicular Cancer, Familial Clustering of				37	49					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100949947	100949947	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:100949947A>G	ENST00000193391.7	-	16	3463	c.3276T>C	c.(3274-3276)tgT>tgC	p.C1092C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1092	EGF-like 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAAATTCCTCACAGTGCTTGC	0.488000													38	180					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744718	135744718	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:135744718G>A	ENST00000375845.3	-	7	1754	c.1724C>T	c.(1723-1725)cCg>cTg	p.P575L	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P462L|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P592L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TCCCAAAGCCGGGAAAATTTG	0.433000													27	69					0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58290117	58290117	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:58290117A>T	ENST00000391702.3	+	4	401		c.e4-1		ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_Splice_Site|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396154.2_Splice_Site	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		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;0.026)		CTTTGCTTTTAGGTTGTTGGC	0.433000													6	163					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119624701	119624701	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:119624701T>A	ENST00000264235.8	-	7	1698		c.e7-2		GSK3B_ENST00000316626.5_Splice_Site	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta						axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	ACCATACATCTAAAGAGAAAA	0.373000													6	245					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2463873	2463873	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:2463873A>G	ENST00000278772.4	-	6	2221	c.1734T>C	c.(1732-1734)gtT>gtC	p.V578V	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						ACTCCCTACAAACATAATGCT	0.517000													4	228					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186578723	186578723	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:186578723G>A	ENST00000431808.1	-	7	685	c.122C>T	c.(121-123)gCg>gTg	p.A41V	SORBS2_ENST00000393528.3_Missense_Mutation_p.A87V|SORBS2_ENST00000355634.5_Missense_Mutation_p.A141V|SORBS2_ENST00000319471.9_Missense_Mutation_p.A127V|SORBS2_ENST00000284776.7_Missense_Mutation_p.A41V|SORBS2_ENST00000449407.2_Missense_Mutation_p.A127V|SORBS2_ENST00000448662.2_Missense_Mutation_p.A110V|SORBS2_ENST00000437304.2_Missense_Mutation_p.A220V			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	41						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGAGACTGCGCATGCTGGGG	0.488000													3	93					0	0	1	0	0
DEFB126	81623	broad.mit.edu	37	20	126245	126245	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:126245T>A	ENST00000382398.3	+	2	508	c.248T>A	c.(247-249)gTa>gAa	p.V83E	DEFB126_ENST00000542572.1_3'UTR	NM_030931.2	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	83					defense response to bacterium	extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ATTTcaacagtaacagcaaca	0.463000													6	346					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57535668	57535668	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:57535668A>T	ENST00000267811.5	+	13	1339		c.e13-1		TCF12_ENST00000343827.3_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000452095.2_Splice_Site|TCF12_ENST00000543579.1_Splice_Site|TCF12_ENST00000537840.1_Splice_Site|TCF12_ENST00000560764.1_Splice_Site|TCF12_ENST00000333725.5_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTTTCTGGTTAGATTTATTCT	0.383000			T	TEC	extraskeletal myxoid chondrosarcoma								7	193					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64389899	64389899	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													5	130					0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149959698	149959698	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:149959698T>A	ENST00000367411.2	-	2	246		c.e2-2		KATNA1_ENST00000335643.8_Splice_Site|KATNA1_ENST00000335647.5_5'UTR	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1						cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AACTGTAAGCTAAAAAGAAGA	0.323000													4	132					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133764245	133764245	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:133764245T>A	ENST00000356838.3	-	4	244		c.e4-2		TMEM71_ENST00000377901.4_Splice_Site|TMEM71_ENST00000517538.1_Splice_Site|TMEM71_ENST00000523829.1_Splice_Site	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71							integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	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)			CAGGTGAAACTAAGAAGGAAA	0.438000													5	122					0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42680994	42680994	+	Silent	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:42680994T>A	ENST00000232978.8	+	13	3986	c.3798T>A	c.(3796-3798)atT>atA	p.I1266I	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1266					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)		GAATAGAAATTAAAAGCAAAA	0.443000													5	89					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9200622	9200622	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:9200622T>A	ENST00000328194.3	-	7	1776		c.e7-2		DENND5A_ENST00000530044.1_Splice_Site	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A											breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CACTTCCAACTACAAAAAAAG	0.368000													5	109					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:183495729A>T	ENST00000367537.3	+	6	594		c.e6-1		SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333000													16	111					0	0	1	0	0
OTUD5	55593	broad.mit.edu	37	X	48792084	48792084	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:48792084A>T	ENST00000156084.4	-	4	870	c.810T>A	c.(808-810)atT>atA	p.I270I	OTUD5_ENST00000428668.2_Silent_p.I53I|OTUD5_ENST00000376488.3_Silent_p.I270I|OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000396743.3_Silent_p.I270I	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	270	OTU.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GCTTCCTGTTAATGTAGGTGG	0.463000													10	798					0	0	1	0	0
SLC39A14	23516	broad.mit.edu	37	8	22273349	22273349	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:22273349T>G	ENST00000359741.5	+	6	993	c.818T>G	c.(817-819)gTg>gGg	p.V273G	SLC39A14_ENST00000240095.6_Missense_Mutation_p.V273G|SLC39A14_ENST00000289952.5_Missense_Mutation_p.V273G|SLC39A14_ENST00000381237.1_Missense_Mutation_p.V273G	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	273						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GAGGAGGGGGTGATGGAGAAG	0.577000													11	219					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216298131	216298131	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:216298131T>G	ENST00000354785.4	-	3	700	c.331A>C	c.(331-333)Act>Cct	p.T111P	FN1_ENST00000446046.1_Missense_Mutation_p.T111P|FN1_ENST00000443816.1_Missense_Mutation_p.T111P|FN1_ENST00000323926.6_Missense_Mutation_p.T111P|FN1_ENST00000432072.2_Missense_Mutation_p.T111P|FN1_ENST00000421182.1_Missense_Mutation_p.T111P|FN1_ENST00000359671.1_Missense_Mutation_p.T111P|FN1_ENST00000357867.4_Missense_Mutation_p.T111P|FN1_ENST00000357009.2_Missense_Mutation_p.T111P|FN1_ENST00000356005.4_Missense_Mutation_p.T111P|FN1_ENST00000346544.3_Missense_Mutation_p.T111P|FN1_ENST00000345488.5_Missense_Mutation_p.T111P|FN1_ENST00000336916.4_Missense_Mutation_p.T111P|FN1_ENST00000426059.1_Missense_Mutation_p.T111P			P02751	FINC_HUMAN	fibronectin 1	111	Fibrin- and heparin-binding 1.|Fibronectin type-I 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCTCATAAGTGTCACCCACT	0.498000													28	170					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128863439	128863439	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:128863439A>T	ENST00000274487.4	+	5	1213		c.e5-1		CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATTTGTTTTTAGGTATTTAAC	0.328000													5	31					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990712	63990712	+	Nonsense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:63990712A>C	ENST00000370657.4	-	4	777	c.744T>G	c.(742-744)taT>taG	p.Y248*	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	248					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CTCCAGTGTGATACAAGCCAT	0.403000													14	51					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82935895	82935895	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:82935895A>T	ENST00000260047.6	+	6	1378		c.e6-1		ANKRD42_ENST00000393392.2_Splice_Site|ANKRD42_ENST00000533342.1_Splice_Site|ANKRD42_ENST00000531895.1_Splice_Site			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CCTTTCCTCTAGTTCACTTAG	0.333000													8	191					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47693859	47693859	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:47693859G>C	ENST00000406134.1	+	10	1635	c.1573G>C	c.(1573-1575)Gta>Cta	p.V525L	MSH2_ENST00000543555.1_Missense_Mutation_p.V459L|MSH2_ENST00000233146.2_Missense_Mutation_p.V525L			P43246	MSH2_HUMAN	mutS homolog 2	525					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACTTTCGTGTAACCTGTAA	0.353000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	165					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108147573	108147573	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:108147573A>T	ENST00000273353.3	-	28	3584	c.3528T>A	c.(3526-3528)acT>acA	p.T1176T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1176						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGTTTCTTAGTTATTTCCA	0.493000													12	335					0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101014489	101014489	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:101014489G>C	ENST00000264249.3	-	5	693	c.308C>G	c.(307-309)aCt>aGt	p.T103S	CHST10_ENST00000542617.1_Missense_Mutation_p.T151S|CHST10_ENST00000409701.1_Missense_Mutation_p.T103S	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	103					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GGAGACAGGAGTGTGCGAGAG	0.517000													6	437					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168440859	168440859	+	Silent	SNP	G	G	A	rs147571413	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:168440859G>A	ENST00000443060.2	+	7	1000	c.609G>A	c.(607-609)acG>acA	p.T203T	KIF25_ENST00000354419.2_Silent_p.T203T|KIF25_ENST00000351261.3_Silent_p.T203T			Q9UIL4	KIF25_HUMAN	kinesin family member 25	203	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGATAATTACGGTGACTCTAA	0.512000													5	30					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53141056	53141056	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:53141056T>A	ENST00000542638.1	-	4	694		c.e4-2		ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000304434.6_Splice_Site			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5						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)					TGTTACTAACTAAAAAAGAAG	0.413000													5	90					0	0	1	0	0
MMP8	4317	broad.mit.edu	37	11	102584483	102584483	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:102584483A>T	ENST00000236826.3	-	9	1393		c.e9+1			NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)						collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		TTTCCTACTTACGTTCTTGCT	0.393000													6	174					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20837555	20837555	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:20837555G>T	ENST00000262715.5	-	53	7644	c.7604C>A	c.(7603-7605)gCc>gAc	p.A2535D	TEP1_ENST00000556935.1_Missense_Mutation_p.A2427D	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2535					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATCCATGCTGGCATCACTATC	0.507000													4	225					0.000602214	0.000617856	1	1	0
TRAM1L1	133022	broad.mit.edu	37	4	118005505	118005505	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:118005505C>T	ENST00000310754.4	-	1	1231	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	349					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.G349*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						ACTCCCACTCCGTTTTCTGTT	0.393000													64	171					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94861313	94861313	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:94861313C>T	ENST00000358746.2	-	14	1497	c.1199G>A	c.(1198-1200)gGt>gAt	p.G400D		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	400							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCAAATGAACCTTTGTTCCG	0.343000													8	388					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77797325	77797325	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:77797325C>T	ENST00000354212.4	-	15	2757	c.2504G>A	c.(2503-2505)gGc>gAc	p.G835D	MAGI2_ENST00000522391.1_Missense_Mutation_p.G835D|MAGI2_ENST00000419488.1_Missense_Mutation_p.G821D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	835	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGGGTTTTGCCGGCTACTGG	0.537000													4	289					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154493879	154493879	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:154493879G>A	ENST00000368482.4	+	6	1131	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.R98Q	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	98	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCCACAAGCGAAAACTGTTC	0.507000													101	383					0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81399984	81399984	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:81399984T>C	ENST00000430430.1	+	2	1718	c.939T>C	c.(937-939)tcT>tcC	p.S313S	ZBTB10_ENST00000426744.2_Silent_p.S313S|ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000455036.3_Silent_p.S313S	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	313					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ACCACGTCTCTACCGAGCACA	0.537000													18	95					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179566270	179566270	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:179566270C>G	ENST00000589042.1	-	110	30807	c.30583G>C	c.(30583-30585)Gca>Cca	p.A10195P	TTN_ENST00000342992.6_Missense_Mutation_p.A8951P|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9878P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9878	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGCACTGCTCTGATAGGC	0.433000													27	132					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79617108	79617108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:79617108T>A	ENST00000296739.4	+	1	1319	c.1074T>A	c.(1072-1074)taT>taA	p.Y358*		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AGATAAACTATAAACAGGACA	0.373000													5	115					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43534834	43534834	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr18:43534834A>T	ENST00000282041.5	-	2	568	c.534T>A	c.(532-534)agT>agA	p.S178R		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	178					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGTCTTCTTTACTATTCTGAG	0.428000													6	54					0	0	1	0	0
ELK4	2005	broad.mit.edu	37	1	205589422	205589422	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:205589422G>C	ENST00000357992.4	-	3	1091	c.752C>G	c.(751-753)aCc>aGc	p.T251S	ELK4_ENST00000289703.4_Missense_Mutation_p.T251S	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGGTGGTGTGGTGGCAAAAGC	0.502000			T	SLC45A3	prostate								13	566					0	0	1	0	0
TRAV2	28691	broad.mit.edu	37	14	22180791	22180791	+	RNA	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr14:22180791A>T	ENST00000390424.2	+	0	74																											TGTTTTCTGTAGTTGCAGAAA	0.418000													8	158					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146244777	146244777	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:146244777A>T	ENST00000367503.3	-	18	3971		c.e18+1		SHPRH_ENST00000438092.2_Splice_Site|SHPRH_ENST00000367505.2_Splice_Site|SHPRH_ENST00000275233.7_Splice_Site	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase						DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTGTTTTCTTACTTCTCTGAC	0.323000													4	81					0	0	1	0	0
IFT46	56912	broad.mit.edu	37	11	118428460	118428460	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:118428460T>C	ENST00000264020.2	-	4	568	c.191A>G	c.(190-192)cAc>cGc	p.H64R	IFT46_ENST00000530872.1_Missense_Mutation_p.H64R|IFT46_ENST00000264021.3_Intron	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	15					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TACCTTTCTGTGCTTCTGGCT	0.453000													3	181					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80156290	80156290	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:80156290T>C	ENST00000392347.1	-	3	452	c.416A>G	c.(415-417)aAt>aGt	p.N139S	CCDC57_ENST00000392343.3_Missense_Mutation_p.N139S|CCDC57_ENST00000389641.4_Missense_Mutation_p.N139S	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	139										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AATCTCACCATTCTTGTCACT	0.413000													9	35					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25353868	25353868	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr13:25353868T>C	ENST00000255324.5	+	5	545	c.493T>C	c.(493-495)Tta>Cta	p.L165L	RNF17_ENST00000255325.5_Silent_p.L165L|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Silent_p.L165L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	165					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTCGAACAGTTAAGCATTGC	0.363000													53	128					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103317335	103317335	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:103317335A>T	ENST00000520539.1	-	21	3411	c.2805T>A	c.(2803-2805)aaT>aaA	p.N935K	UBR5_ENST00000521922.1_Missense_Mutation_p.N929K|UBR5_ENST00000220959.4_Missense_Mutation_p.N935K	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	935					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGTTTCTTTATTGCTGGTTG	0.358000													7	303					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66795797	66795797	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:66795797A>T	ENST00000488550.1	+	11	1323		c.e11-1		MEIS1_ENST00000444274.2_Splice_Site|MEIS1_ENST00000398506.2_Splice_Site|MEIS1_ENST00000407092.2_Splice_Site|MEIS1_ENST00000272369.9_Splice_Site|MEIS1_ENST00000495021.2_Splice_Site|MEIS1_ENST00000409517.1_Splice_Site			O00470	MEIS1_HUMAN	Meis homeobox 1								sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GTACTTTTGTAGTAAGTCAAG	0.413000													6	425					0	0	1	0	0
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657000													3	39					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149814337	149814337	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:149814337C>T	ENST00000370396.2	+	9	914	c.860C>T	c.(859-861)gCc>gTc	p.A287V	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.A172V|MTM1_ENST00000542741.1_Missense_Mutation_p.A192V|MTM1_ENST00000413012.2_Missense_Mutation_p.A250V	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	287	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AATGCAGTGGCCAACAAGGTG	0.383000													4	504					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93757421	93757421	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:93757421A>T	ENST00000265990.6	+	25	3881	c.3573A>T	c.(3571-3573)gtA>gtT	p.V1191V	BTAF1_ENST00000544642.1_Silent_p.V19V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1191					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TTGTTCCTGTATTAGGAAGAA	0.388000													4	99					0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6952544	6952544	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:6952544G>A	ENST00000229264.3	+	7	690	c.285G>A	c.(283-285)ctG>ctA	p.L95L	GNB3_ENST00000435982.2_Silent_p.L95L	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	95					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CCATCCCACTGCGCTCCTCCT	0.607000													4	279					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158447321	158447321	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:158447321T>C	ENST00000409339.3	-	22	2825	c.2712A>G	c.(2710-2712)caA>caG	p.Q904Q	NCAPG2_ENST00000275830.10_Silent_p.Q696Q|NCAPG2_ENST00000356309.3_Silent_p.Q904Q|NCAPG2_ENST00000409423.1_Silent_p.Q904Q|NCAPG2_ENST00000449727.2_Silent_p.Q904Q|NCAPG2_ENST00000541468.1_Silent_p.Q405Q			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	904					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCTGTAAGAGTTGCATCTGAA	0.463000													77	269					0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964318	109964318	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:109964318G>T	ENST00000309415.6	+	2	762	c.762G>T	c.(760-762)ttG>ttT	p.L254F		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	254							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCCAGCCCTTGCCACACGCCC	0.577000													6	68					1.11149e-13	1.19267e-13	1	1	0
CHD6	84181	broad.mit.edu	37	20	40033458	40033458	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr20:40033458C>T	ENST00000373233.3	-	37	8100	c.7923G>A	c.(7921-7923)caG>caA	p.Q2641Q	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2641					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGTGTCTGGCCTGCTGCATGG	0.542000													36	66					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009353	120009353	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:120009353C>G	ENST00000371311.3	-	1	426	c.172G>C	c.(172-174)Gtg>Ctg	p.V58L		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	58										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						AGGCCTTCCACGGGCCCTGCG	0.751000													3	14					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53077787	53077787	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	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													7	577					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152324541	152324541	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:152324541A>C	ENST00000243326.4	+	30	7111	c.6628A>C	c.(6628-6630)Ata>Cta	p.I2210L	RIF1_ENST00000428287.2_Missense_Mutation_p.I2210L|RIF1_ENST00000430328.2_Missense_Mutation_p.I2210L|RIF1_ENST00000444746.2_Missense_Mutation_p.I2210L|RIF1_ENST00000453091.2_Missense_Mutation_p.I2210L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2210	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGCAGATCCAATATACCAAGC	0.353000													27	134					0	0	1	0	0
LGALS17A	400696	broad.mit.edu	37	19	40172101	40172101	+	RNA	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:40172101C>A	ENST00000412609.1	+	0	90																											GTGTCCTTGTCTACTGGTTCT	0.552000													5	195					0.0215528	0.0218967	1	1	0
ARRB2	409	broad.mit.edu	37	17	4624281	4624281	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:4624281C>T	ENST00000269260.2	+	15	1410	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	ARRB2_ENST00000381488.6_Missense_Mutation_p.R378W|ARRB2_ENST00000571206.1_Missense_Mutation_p.R201W|ARRB2_ENST00000412477.3_Missense_Mutation_p.R414W|ARRB2_ENST00000346341.2_Missense_Mutation_p.R390W|ARRB2_ENST00000574954.1_Missense_Mutation_p.R201W|ARRB2_ENST00000572457.1_Missense_Mutation_p.R201W|ARRB2_ENST00000575877.1_3'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	393	Interaction with AP2B1.|Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						GGACTTTGCCCGGCTTCGGCT	0.557000													5	739					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39550117	39550117	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:39550117A>T	ENST00000265707.5	+	17	1866		c.e17-1		ADAM18_ENST00000523755.1_Splice_Site|ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTTTTGTTTTAGTACTGTGTA	0.279000													4	83					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41246630	41246630	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:41246630A>T	ENST00000309486.4	-	9	1057	c.30T>A	c.(28-30)aaT>aaA	p.N10K	BRCA1_ENST00000471181.2_Missense_Mutation_p.N306K|BRCA1_ENST00000354071.3_Missense_Mutation_p.N306K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.N306K|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.N259K|BRCA1_ENST00000346315.3_Missense_Mutation_p.N306K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	306			E -> K (in BC and BROVCA1).		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTTGCTTTTATTACAGAATT	0.418000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			5	182					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91025444	91025444	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:91025444C>T	ENST00000268182.5	+	28	3610	c.3486C>T	c.(3484-3486)ttC>ttT	p.F1162F	IQGAP1_ENST00000560738.1_Silent_p.F590F	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1162	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGATGCGCTTCATTGCCAAAG	0.522000											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	181					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407417	55407417	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:55407417A>G	ENST00000341048.4	-	10	1309	c.1158T>C	c.(1156-1158)gaT>gaC	p.D386D	ANKRD55_ENST00000434982.2_Silent_p.D98D|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Silent_p.D343D	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	385										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CCACGATGCTATCAAAGGTGG	0.463000													128	678					0	0	1	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841809	4841809	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:4841809G>A	ENST00000225665.7	-	4	884	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	SLC25A11_ENST00000544061.2_Missense_Mutation_p.R131W	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	182					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						CCACTCACCCGCCACAGTGTG	0.602000													3	141					0	0	1	0	0
CXorf61	203413	broad.mit.edu	37	X	115593103	115593103	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:115593103A>T	ENST00000371894.4	-	2	293	c.147T>A	c.(145-147)atT>atA	p.I49I		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	49						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						TATTGCTGTTAATTAACCCAG	0.393000													5	338					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117742192	117742192	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:117742192A>T	ENST00000276204.6	+	26	2825		c.e26-1		DOCK11_ENST00000276202.7_Splice_Site			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTTTATTTGTAGTATAGCTTC	0.363000													4	142					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360904	105360904	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:105360904A>T	ENST00000297581.2	+	2	173	c.124A>T	c.(124-126)Att>Ttt	p.I42F	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.I42F|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	42					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GGTTGCTCTTATTTCAGTGGG	0.507000													7	532					0	0	1	0	0
PPIL4	85313	broad.mit.edu	37	6	149838510	149838510	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:149838510A>C	ENST00000253329.2	-	11	1091	c.1059T>G	c.(1057-1059)gaT>gaG	p.D353E	PPIL4_ENST00000340881.2_5'UTR	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	353	Lys-rich.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GCTTTACTTTATCTTTCAGAA	0.328000													7	44					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70643015	70643015	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:70643015G>T	ENST00000449580.1	+	30	4549	c.4498G>T	c.(4498-4500)Gat>Tat	p.D1500Y	TAF1_ENST00000276072.3_Missense_Mutation_p.D1521Y|TAF1_ENST00000423759.1_Missense_Mutation_p.D1521Y|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000373790.4_Missense_Mutation_p.D1500Y			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1500	Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCCCTTGCTGGATGATGATGA	0.423000													33	140					8.16721e-17	8.86328e-17	1	1	0
MACF1	23499	broad.mit.edu	37	1	39908161	39908161	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:39908161T>C	ENST00000564288.1	+	77	19803	c.19026T>C	c.(19024-19026)caT>caC	p.H6342H	MACF1_ENST00000567887.1_Silent_p.H6379H|MACF1_ENST00000545844.1_Silent_p.H4283H|MACF1_ENST00000289893.4_Silent_p.H4785H|MACF1_ENST00000361689.2_Silent_p.H4283H|MACF1_ENST00000317713.7_Silent_p.H4283H|MACF1_ENST00000539005.1_Silent_p.H4153H|MACF1_ENST00000372915.3_Silent_p.H6241H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6350					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)			GGCTGACTCATACCGAAGAGT	0.438000													12	159					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186158774	186158774	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:186158774A>G	ENST00000271588.4	+	107	16901	c.16672A>G	c.(16672-16674)Aca>Gca	p.T5558A	HMCN1_ENST00000367492.2_Missense_Mutation_p.T5441A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5558					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTTGCATACACACAGGATGG	0.468000													37	111					0	0	1	0	0
PPP1R7	5510	broad.mit.edu	37	2	242102749	242102749	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:242102749G>C	ENST00000234038.6	+	7	1121	c.647G>C	c.(646-648)gGg>gCg	p.G216A	PPP1R7_ENST00000401987.1_Missense_Mutation_p.G173A|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000272983.8_Missense_Mutation_p.G173A|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G216A|PPP1R7_ENST00000406106.3_Missense_Mutation_p.G216A|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G210A|PPP1R7_ENST00000402734.1_Missense_Mutation_p.G157A	NM_002712.1	NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	216						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TTGTTTTTGGGGAAAAACAAA	0.493000													33	254					0	0	1	0	0
TPT1	7178	broad.mit.edu	37	13	45914269	45914269	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr13:45914269A>G	ENST00000379056.1	-	2	221	c.51T>C	c.(49-51)aaT>aaC	p.N17N	TPT1_ENST00000379060.4_Silent_p.N39N|TPT1_ENST00000379055.1_Silent_p.N17N|TPT1_ENST00000309246.5_Silent_p.N51N|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000530705.1_Silent_p.N51N			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	51					anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CAGCGGAGGCATTTCCACCAA	0.453000													19	92					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76750433	76750433	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:76750433A>T	ENST00000261183.3	-	23	2989	c.2510T>A	c.(2509-2511)aTa>aAa	p.I837K	OSBPL8_ENST00000393249.2_Missense_Mutation_p.I795K|OSBPL8_ENST00000393250.4_Missense_Mutation_p.I795K	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	837					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGTTTGTTTTATAGATTCGAT	0.318000													4	63					0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123332672	123332672	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:123332672G>T	ENST00000223023.4	-	9	1408	c.1076C>A	c.(1075-1077)cCa>cAa	p.P359Q		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	359	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGTGGTGGTGGAGGCCCTGA	0.672000													31	83					1.36615e-20	1.49962e-20	1	1	0
GJA10	84694	broad.mit.edu	37	6	90604653	90604653	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:90604653A>T	ENST00000369352.1	+	1	466	c.466A>T	c.(466-468)Act>Tct	p.T156S		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	156					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.T156A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTGCTGCGTACTTATGTCTT	0.438000													7	395					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65983659	65983659	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:65983659A>T	ENST00000443035.3	-	23	3485	c.3270T>A	c.(3268-3270)atT>atA	p.I1090I	DENND4A_ENST00000431932.2_Silent_p.I1047I	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTTCCTGGTTAATTCTATTGA	0.388000													4	58					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87607649	87607649	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:87607649A>T	ENST00000398204.4	+	3	569		c.e3-1		ADAM22_ENST00000265727.7_Splice_Site|ADAM22_ENST00000398201.4_Splice_Site|ADAM22_ENST00000398209.3_Splice_Site|ADAM22_ENST00000439864.1_Splice_Site|ADAM22_ENST00000315984.7_Splice_Site	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22						cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTGATATTGTAGTTGACTCAT	0.343000													5	143					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60074085	60074085	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr14:60074085C>T	ENST00000267484.5	-	4	2226	c.1891G>A	c.(1891-1893)Gca>Aca	p.A631T	RTN1_ENST00000342503.4_Missense_Mutation_p.A63T|RTN1_ENST00000395090.1_Missense_Mutation_p.A48T|RTN1_ENST00000557422.1_5'UTR	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	631	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCTGAGAGTGCGGCCAGGGCC	0.567000													3	143					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28378134	28378134	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:28378134A>T	ENST00000394835.3	+	9	1392		c.e9-1		EFCAB5_ENST00000394832.2_Splice_Site|EFCAB5_ENST00000536908.2_Splice_Site|EFCAB5_ENST00000541045.1_Splice_Site|EFCAB5_ENST00000378738.3_Splice_Site|EFCAB5_ENST00000320856.5_Splice_Site	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5								calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTTTGCTTAGGTAGGGTTT	0.398000													4	118					0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49719983	49719983	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:49719983C>T	ENST00000296456.5	+	19	2097	c.1697C>T	c.(1696-1698)gCa>gTa	p.A566V	APEH_ENST00000438011.1_Missense_Mutation_p.A566V	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	566					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGCAGTTTGCAGTGGAACAG	0.577000													4	112					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63257288	63257288	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:63257288C>G	ENST00000323865.3	-	1	492	c.259G>C	c.(259-261)Gtg>Ctg	p.V87L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	87					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGCACCAACACCGACACCATG	0.602000													10	54					0	0	1	0	0
MMD	23531	broad.mit.edu	37	17	53471706	53471706	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:53471706G>A	ENST00000262065.3	-	7	1002	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	236					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CATAAATGCCGCATAAAGTCC	0.458000													5	760					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121587100	121587100	+	Silent	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:121587100T>A	ENST00000361976.2	+	20	3373	c.3207T>A	c.(3205-3207)tcT>tcA	p.S1069S	INPP5F_ENST00000369080.3_Silent_p.S459S	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1069							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GAGCAGTCTCTCCCTTTGCCA	0.478000													53	161					0	0	1	0	0
PRG3	10394	broad.mit.edu	37	11	57147060	57147060	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:57147060C>T	ENST00000287143.2	-	3	391	c.282G>A	c.(280-282)agG>agA	p.R94R		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	94					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						TGTCTTCTTCCCTGGGGCACT	0.517000													7	28					0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334715	122334715	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:122334715G>A	ENST00000398250.1	+	6	870	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R110Q|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R173Q|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R163Q	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	173					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GAGAGTGGGCGGGGAAAGAGC	0.577000													5	325					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76369561	76369561	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr13:76369561G>A	ENST00000357063.3	+	6	1758	c.498G>A	c.(496-498)gtG>gtA	p.V166V	LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000526202.1_Silent_p.V75V|LMO7_ENST00000377534.3_Silent_p.V166V|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000341547.4_Silent_p.V166V|RP11-29G8.3_ENST00000563635.1_RNA			Q8WWI1	LMO7_HUMAN	LIM domain 7	166	CH.					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)		ACAGGAGAGTGAAAAATGTAA	0.313000													22	102					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:58385748G>A	ENST00000435989.2	-	3	1244	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	337					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.A337V(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353000													3	13					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89577156	89577156	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:89577156G>A	ENST00000402738.1	+	9	1278	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	HERC3_ENST00000264345.3_Missense_Mutation_p.A347T|HERC3_ENST00000407637.1_Missense_Mutation_p.A347T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	347					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTACTGGGCTGCCCACAGTGG	0.433000													5	161					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082937	9082937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:9082937C>A	ENST00000397910.4	-	1	9081	c.8878G>T	c.(8878-8880)Gaa>Taa	p.E2960*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2961	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						TCAGGGGTTTCAGTAAAACCT	0.502000													8	275					0.000442599	0.000459437	1	1	0
ASPM	259266	broad.mit.edu	37	1	197093276	197093276	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:197093276A>T	ENST00000367409.4	-	13	3610	c.3354T>A	c.(3352-3354)gaT>gaA	p.D1118E	ASPM_ENST00000367408.1_Missense_Mutation_p.D368E|ASPM_ENST00000294732.7_Missense_Mutation_p.D1118E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1118	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATTTACCCAATCCATCAATA	0.274000													10	68					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53880961	53880961	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:53880961G>T	ENST00000547035.1	-	2	419	c.215C>A	c.(214-216)cCc>cAc	p.P72H	MAP3K12_ENST00000547151.1_Intron|MAP3K12_ENST00000267079.2_Intron|MAP3K12_ENST00000547488.1_Missense_Mutation_p.P72H			Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	46					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGGCTCAGGGGGCGGCTCTCC	0.647000													6	54					1.33987e-11	1.42969e-11	1	1	0
COPA	1314	broad.mit.edu	37	1	160263026	160263026	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:160263026T>A	ENST00000241704.7	-	27	2984		c.e27-2		COPA_ENST00000368069.3_Splice_Site	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha						COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACACCAGATCTAACAAGAAAC	0.418000													5	185					0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67666418	67666418	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:67666418A>T	ENST00000347310.5	+	5	662		c.e5-1		C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Splice_Site	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	p.?(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTTGTTTTAAGTTTAGAGAC	0.373000													6	124					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129841933	129841933	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:129841933T>A	ENST00000397622.2	-	5	454		c.e5-2		TMEM209_ENST00000473456.1_Splice_Site|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Splice_Site|TMEM209_ENST00000462753.1_Splice_Site	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209							integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					TCTGTACAACTAGAAGGAAAA	0.388000													4	132					0	0	1	0	0
DERL3	91319	broad.mit.edu	37	22	24179339	24179339	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr22:24179339T>C	ENST00000404056.1	-	5	463	c.445A>G	c.(445-447)Att>Gtt	p.I149V	DERL3_ENST00000318109.7_Missense_Mutation_p.I176V|DERL3_ENST00000406855.3_Missense_Mutation_p.I176V|DERL3_ENST00000476077.1_Missense_Mutation_p.I176V			Q96Q80	DERL3_HUMAN	derlin 3	176			F -> L (in dbSNP:rs3177243).		endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						CCCACCGCAATCCCTGTGAGA	0.632000													3	27					0	0	1	0	0
CCDC163P	126661	broad.mit.edu	37	1	45962262	45962262	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:45962262G>C	ENST00000490551.3	-	4	660	c.296C>G	c.(295-297)gCt>gGt	p.A99G	CCDC163P_ENST00000432082.1_Missense_Mutation_p.A99G|CCDC163P_ENST00000488405.2_Missense_Mutation_p.A99G|CCDC163P_ENST00000502793.2_5'UTR																cervix(1)|endometrium(1)	2						TCGTCCCTCAGCCAGCTGTTT	0.527000													14	38					0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76380267	76380267	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:76380267A>T	ENST00000370014.3	+	11	1843		c.e11-1		SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000541192.1_Splice_Site|SENP6_ENST00000327284.8_Splice_Site|SENP6_ENST00000447266.2_Splice_Site	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6						proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTCCTTTTTAGTTTGGCAAT	0.323000													8	68					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764578	110764578	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:110764578A>G	ENST00000451085.1	+	4	2796	c.1750A>G	c.(1750-1752)Aat>Gat	p.N584D	IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N584D|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.N584D	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	584	Fibronectin type-III.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACTCATCTGAATCCATCAAC	0.363000													8	46					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87703387	87703387	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:87703387C>T	ENST00000436978.1	+	37	6491	c.6011C>T	c.(6010-6012)gCc>gTc	p.A2004V	PTPN13_ENST00000316707.6_Missense_Mutation_p.A1808V|PTPN13_ENST00000511467.1_Missense_Mutation_p.A2004V|PTPN13_ENST00000411767.2_Missense_Mutation_p.A1999V|PTPN13_ENST00000427191.2_Missense_Mutation_p.A1980V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1999						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGCCAGCCTGCCCTCACTCCT	0.453000													5	254					0	0	1	0	0
CASP9	842	broad.mit.edu	37	1	15844782	15844782	+	Translation_Start_Site	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:15844782C>A	ENST00000375890.4	-	0	252				CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000546424.1_Missense_Mutation_p.G81C|CASP9_ENST00000333868.5_Missense_Mutation_p.G81C|CASP9_ENST00000348549.5_Missense_Mutation_p.G81C	NM_032996.2	NP_127463.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase						activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		ATGTCCTGGCCTGTGTCCTCT	0.542000													7	182					0.307466	0.307466	1	1	0
ACSL1	2180	broad.mit.edu	37	4	185678806	185678806	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:185678806G>A	ENST00000515030.1	-	20	2264	c.1939C>T	c.(1939-1941)Ctg>Ttg	p.L647L	ACSL1_ENST00000281455.2_Silent_p.L647L|ACSL1_ENST00000504342.1_Silent_p.L647L|ACSL1_ENST00000507295.1_Silent_p.L613L|ACSL1_ENST00000513317.1_Silent_p.L647L|ACSL1_ENST00000454703.2_Silent_p.L476L|ACSL1_ENST00000437665.3_Silent_p.L476L			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	647					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AATGGTTTCAGACCAGAATCC	0.348000													7	917					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144106	55144106	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:55144106G>A	ENST00000396331.1	+	7	1210	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	LILRB1_ENST00000396321.2_Missense_Mutation_p.G285S|LILRB1_ENST00000396327.3_Missense_Mutation_p.G285S|LILRB1_ENST00000396332.4_Missense_Mutation_p.G285S|LILRB1_ENST00000434867.2_Missense_Mutation_p.G285S|LILRB1_ENST00000418536.2_Missense_Mutation_p.G285S|LILRB1_ENST00000324602.7_Missense_Mutation_p.G285S|LILRB1_ENST00000396317.1_Missense_Mutation_p.G285S|LILRB1_ENST00000448689.1_Missense_Mutation_p.G285S|LILRB1_ENST00000427581.2_Missense_Mutation_p.G321S|LILRB1_ENST00000396315.1_Missense_Mutation_p.G285S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	285	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTTCACCCTGGGCCCTGTGAG	0.622000										HNSCC(37;0.09)			3	52					0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95775710	95775710	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:95775710A>T	ENST00000272418.2	-	4	562	c.354T>A	c.(352-354)acT>acA	p.T118T		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	118					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCTTCTTTTTAGTTCTTTTGC	0.393000													8	174					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630355	74630355	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:74630355G>A	ENST00000358632.4	-	9	1745	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	CYP11A1_ENST00000419019.2_Silent_p.S350S|CYP11A1_ENST00000268053.6_Silent_p.S508S	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	508					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	AGAAGGTGAAGGAGATGGGCT	0.557000													4	341					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246594	113246594	+	Splice_Site	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:113246594A>C	ENST00000297405.5	-	68	10984	c.10740_splice	c.e68+1	p.F3580_splice	CSMD3_ENST00000352409.3_Splice_Site_p.F3510_splice|CSMD3_ENST00000455883.2_Splice_Site_p.F3411_splice|CSMD3_ENST00000343508.3_Splice_Site_p.F3540_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3580						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTATACTTACAAAGCCATCCA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			82	132					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32944606	32944606	+	Missense_Mutation	SNP	C	C	G	rs80359087		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr13:32944606C>G	ENST00000544455.1	+	19	8626	c.8399C>G	c.(8398-8400)cCt>cGt	p.P2800R	BRCA2_ENST00000380152.3_Missense_Mutation_p.P2800R	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2800					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACCCTAGACCTTTTCCTCTG	0.383000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	294					0	0	1	0	0
IL17RB	55540	broad.mit.edu	37	3	53898830	53898830	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:53898830T>A	ENST00000288167.3	+	11	1013	c.1004T>A	c.(1003-1005)cTt>cAt	p.L335H		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	335	SEFIR.				defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		ATTAAGGTTCTTGTGGTTTAC	0.398000													105	292					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198108	15198108	+	Missense_Mutation	SNP	G	G	A	rs146090785	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:15198108G>A	ENST00000209540.2	+	1	318	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CTCCACCACCGTCCCCAAGAT	0.542000													52	109					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231298765	231298765	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:231298765C>T	ENST00000444294.3	+	1	908	c.50C>T	c.(49-51)cCt>cTt	p.P17L	TRIM67_ENST00000449018.3_Missense_Mutation_p.P17L|TRIM67_ENST00000366653.5_Missense_Mutation_p.P17L|TRIM67_ENST00000366652.2_Missense_Mutation_p.P17L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	17						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TTTCGGGAGCCTATCATCCTG	0.672000													5	14					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15822749	15822749	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:15822749G>A	ENST00000281172.5	-	5	651	c.215C>T	c.(214-216)aCc>aTc	p.T72I	EPS8_ENST00000543523.1_Missense_Mutation_p.T72I|EPS8_ENST00000543612.1_Missense_Mutation_p.T72I	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	72	PH; first part.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CAGGACAAAGGTAGTCAAGTG	0.348000													14	57					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96415638	96415638	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr9:96415638C>T	ENST00000359246.4	+	6	1147	c.780C>T	c.(778-780)caC>caT	p.H260H	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	260	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 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			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCTGGTACCACGTGCTCAAGG	0.602000													17	54					0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28858360	28858360	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:28858360T>A	ENST00000373833.6	+	6	404	c.119T>A	c.(118-120)cTa>cAa	p.L40Q	RCC1_ENST00000398958.2_Missense_Mutation_p.L40Q|RCC1_ENST00000373831.3_Missense_Mutation_p.L71Q|RCC1_ENST00000373832.1_Missense_Mutation_p.L40Q			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	40					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCTGACACTAGGCCAGGGC	0.592000													6	33					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20837555	20837555	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr14:20837555G>T	ENST00000262715.5	-	53	7644	c.7604C>A	c.(7603-7605)gCc>gAc	p.A2535D	TEP1_ENST00000556935.1_Missense_Mutation_p.A2427D	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2535					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATCCATGCTGGCATCACTATC	0.507000													4	225					0.000602214	0.000618403	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121668608	121668608	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:121668608A>T	ENST00000393386.2	+	14	5402	c.4991A>T	c.(4990-4992)aAa>aTa	p.K1664I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.K804I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1664					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATTTCCAGGAAATGCTTCCAG	0.353000													44	147					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	30986144	30986144	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:30986144C>T	ENST00000318217.5	-	17	2638	c.2334G>A	c.(2332-2334)acG>acA	p.T778T	MYO1D_ENST00000579584.1_Silent_p.T778T|MYO1D_ENST00000394649.4_Silent_p.T690T|RP11-220C2.1_ENST00000582272.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	778						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TATTGAAAATCGTCTGCAGGG	0.498000											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	218					0	0	1	0	0
GPR137C	283554	broad.mit.edu	37	14	53101774	53101774	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr14:53101774A>T	ENST00000321662.6	+	7	1231	c.1231A>T	c.(1231-1233)Act>Tct	p.T411S		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	411						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTTGCTCTTTACTTGTAGTAA	0.418000													5	123					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47234001	47234001	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:47234001C>A	ENST00000391910.3	-	6	1317	c.867G>T	c.(865-867)aaG>aaT	p.K289N	CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.K170N|STRN4_ENST00000263280.6_Missense_Mutation_p.K289N			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	289						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TCACACGCTGCTTCTTGTGCT	0.637000													5	354					0.014758	0.0150737	1	1	0
IGKV2-24	28923	broad.mit.edu	37	2	89475811	89475811	+	RNA	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:89475811G>A	ENST00000484817.1	-	0	390																											ACCACTGTGTGAGGAAATTGT	0.507000													26	192					0	0	1	0	0
GABPB2	126626	broad.mit.edu	37	1	151089911	151089911	+	Silent	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:151089911T>A	ENST00000368918.3	+	8	1297	c.966T>A	c.(964-966)atT>atA	p.I322I	GABPB2_ENST00000368917.1_Silent_p.I284I|GABPB2_ENST00000467551.1_Intron|GABPB2_ENST00000368916.1_Silent_p.I284I	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	322					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGACTGTAATTAAAGAGGAAG	0.398000													4	97					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001737	98001737	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:98001737G>A	ENST00000355273.2	+	1	6	c.6G>A	c.(4-6)tcG>tcA	p.S2S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CAGGGATGTCGAATGAGGACA	0.398000													47	218					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878537	24878537	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr14:24878537G>A	ENST00000382554.3	+	4	1855	c.1537G>A	c.(1537-1539)Gct>Act	p.A513T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	513					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAGGGACCCGCTCCAGTGCT	0.572000													15	82					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85991773	85991773	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:85991773C>T	ENST00000372105.3	-	4	1803	c.1782G>A	c.(1780-1782)gaG>gaA	p.E594E		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	594						integral to endoplasmic reticulum membrane		p.E594D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCTGTCAGCCTCGCTGACAC	0.562000													6	43					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215955404	215955404	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:215955404C>G	ENST00000366943.2	-	54	11106	c.10720G>C	c.(10720-10722)Ggc>Cgc	p.G3574R	USH2A_ENST00000307340.3_Missense_Mutation_p.G3574R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3574	Fibronectin type-III 20.				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)		GTGGCACAGCCAGCAACCGTG	0.438000										HNSCC(13;0.011)			36	166					0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32879882	32879882	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr22:32879882A>T	ENST00000266087.7	+	3	744		c.e3-1		FBXO7_ENST00000382058.3_Splice_Site|FBXO7_ENST00000397426.1_Splice_Site	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7						cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCTTTTTCAGTTAGGGCCT	0.353000													5	89					0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150873237	150873237	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr7:150873237G>A	ENST00000422024.1	-	5	1626	c.1501C>T	c.(1501-1503)Cgc>Tgc	p.R501C	ASB10_ENST00000377867.3_Missense_Mutation_p.R441C|ASB10_ENST00000434669.1_Missense_Mutation_p.R463C|ASB10_ENST00000275838.1_Missense_Mutation_p.R418C|ASB10_ENST00000420175.2_Missense_Mutation_p.R456C	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	456					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGGTAGCGGAGCAGGCGC	0.667000													7	25					0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158376782	158376782	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:158376782T>A	ENST00000486715.1	+	9	1512	c.1155T>A	c.(1153-1155)taT>taA	p.Y385*	GFM1_ENST00000264263.5_Nonsense_Mutation_p.Y404*|GFM1_ENST00000478576.1_Nonsense_Mutation_p.Y385*	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	385					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ACACCATCTATAACACAAGGA	0.453000													5	137					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109494485	109494485	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:109494485A>T	ENST00000257548.5	+	2	176		c.e2-1		USP30_ENST00000392784.2_Splice_Site	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30						ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TTTCTTTTTTAGATATAAAGT	0.348000													5	211					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19603110	19603110	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr16:19603110A>T	ENST00000438132.3	+	8	954		c.e8-1		C16orf62_ENST00000417362.2_Splice_Site|C16orf62_ENST00000448695.1_Intron|C16orf62_ENST00000251143.5_Splice_Site|C16orf62_ENST00000543152.1_Intron|C16orf62_ENST00000542263.1_Splice_Site|C16orf62_ENST00000538853.1_Splice_Site	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CTCTTTTTTTAGTGTTCAAAG	0.358000													4	140					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119686074	119686074	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:119686074T>A	ENST00000379735.5	-	10	1455		c.e10-2		SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000280551.6_Splice_Site|SEC24D_ENST00000511481.1_Splice_Site|SEC24D_ENST00000505134.1_Splice_Site	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATGGTGGAACTAATAAAAACA	0.323000													4	113					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587000										HNSCC(3;0.000094)			5	355					0	0	1	0	0
UBE2W	55284	broad.mit.edu	37	8	74742650	74742650	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:74742650A>G	ENST00000517608.1	-	2	160	c.160T>C	c.(160-162)Tta>Cta	p.L54L	UBE2W_ENST00000453587.2_Silent_p.L25L|UBE2W_ENST00000602969.1_Silent_p.L36L|UBE2W_ENST00000419880.3_Silent_p.L65L|UBE2W_ENST00000602593.1_Silent_p.L25L|RP11-463D19.2_ENST00000358757.5_Silent_p.L25L			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	25					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			TTCTCATTTAAGGTCATTCCA	0.328000													4	255					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34649099	34649099	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:34649099G>T	ENST00000537011.1	+	8	3272	c.2890G>T	c.(2890-2892)Gtg>Ttg	p.V964L	NUTM1_ENST00000438749.3_Missense_Mutation_p.V954L|NUTM1_ENST00000333756.4_Missense_Mutation_p.V936L					NUT midline carcinoma, family member 1																		AGAAGGCAGGGTGGATCCTGA	0.493000													4	289					0.000602214	0.000618403	1	1	0
TNFSF10	8743	broad.mit.edu	37	3	172224541	172224541	+	Missense_Mutation	SNP	A	A	T	rs142608031		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:172224541A>T	ENST00000241261.2	-	5	709	c.587T>A	c.(586-588)aTa>aAa	p.I196K	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	196					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	p.I196K(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTTTTCTTTTATTTCCTCCTG	0.348000													4	152					0	0	1	0	0
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567000													5	538					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49442951	49442951	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:49442951A>T	ENST00000301067.7	-	12	3956	c.3957T>A	c.(3955-3957)caT>caA	p.H1319Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CACGTCCTCCATGGGCTCCTC	0.572000													6	21					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160143468	160143468	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:160143468C>G	ENST00000368081.4	+	13	2423	c.1952C>G	c.(1951-1953)gCt>gGt	p.A651G	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	651					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGAAGTCGCTGCCCGGCTT	0.547000													43	179					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584416	179584416	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:179584416G>A	ENST00000589042.1	-	82	24027	c.23803C>T	c.(23803-23805)Cat>Tat	p.H7935Y	TTN_ENST00000342992.6_Missense_Mutation_p.H6691Y|TTN_ENST00000591111.1_Missense_Mutation_p.H7618Y|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7618	Ig-like 61.						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)			GTAATGTGATGTTTGCTGTCT	0.403000													11	151					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35083383	35083383	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:35083383A>G	ENST00000290378.4	-	6	1577	c.922T>C	c.(922-924)Tac>Cac	p.Y308H	ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	308					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATACCAGGGTACATAGTGGTG	0.448000													4	705					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3155065	3155065	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr18:3155065C>T	ENST00000400569.3	-	11	1856	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	MYOM1_ENST00000356443.4_Missense_Mutation_p.G508E|MYOM1_ENST00000261606.7_Missense_Mutation_p.G508E			P52179	MYOM1_HUMAN	myomesin 1	508						striated muscle myosin thick filament	structural constituent of muscle	p.G508E(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGCTGGGGCTCCTTCAATCTC	0.527000													22	118					0	0	1	0	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:49395482G>C	ENST00000419783.1	-	1	551	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	77					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000													3	6					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15967631	15967631	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:15967631G>T	ENST00000350896.3	-	9	1327	c.1130C>A	c.(1129-1131)tCa>tAa	p.S377*	MSR1_ENST00000262101.5_Nonsense_Mutation_p.S440*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.S377*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.S458*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	440	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTCAGAATGTGAACAGGCTCT	0.378000													21	93					3.8784e-16	4.18517e-16	1	1	0
DCAF13	25879	broad.mit.edu	37	8	104427735	104427735	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:104427735T>G	ENST00000297579.5	+	1	794	c.517T>G	c.(517-519)Tta>Gta	p.L173V	DCAF13_ENST00000519682.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521716.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521971.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	21					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CAAGTTGGACTTACAGAGAGG	0.567000													44	39					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55448374	55448374	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr14:55448374C>G	ENST00000360586.3	-	16	2012	c.1947G>C	c.(1945-1947)atG>atC	p.M649I	WDHD1_ENST00000421192.1_Missense_Mutation_p.M526I|WDHD1_ENST00000359167.4_Missense_Mutation_p.M167I|WDHD1_ENST00000420358.2_Missense_Mutation_p.M526I	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	649						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTCTGTTAAGCATTCGAACAA	0.403000													23	84					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142740313	142740313	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:142740313A>T	ENST00000397933.2	+	10	868		c.e10-1		U2SURP_ENST00000493598.2_Splice_Site|U2SURP_ENST00000473835.2_Splice_Site			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing						RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TTTCTGCCCTAGTTCTTGATG	0.328000													3	52					0	0	1	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038511	14038511	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:14038511G>C	ENST00000380523.4	-	4	476	c.158C>G	c.(157-159)cCa>cGa	p.P53R	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.P53R	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	53					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TAAGTACCATGGAAGATTGAA	0.473000													7	266					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54610216	54610216	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:54610216G>A	ENST00000371330.1	-	2	1197	c.350C>T	c.(349-351)tCc>tTc	p.S117F	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	117	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GACATGCCAGGAGGAGGTGAA	0.602000													23	68					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137947854	137947854	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:137947854T>A	ENST00000469044.1	+	6	799		c.e6+2		ARMC8_ENST00000358441.2_Splice_Site|ARMC8_ENST00000538260.1_Intron|ARMC8_ENST00000461822.1_Splice_Site|ARMC8_ENST00000491704.1_Splice_Site|ARMC8_ENST00000489213.1_Splice_Site|ARMC8_ENST00000393058.3_Splice_Site|ARMC8_ENST00000485396.1_Intron|ARMC8_ENST00000481646.1_Splice_Site|ARMC8_ENST00000471453.1_Splice_Site|ARMC8_ENST00000470821.1_Splice_Site	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8								binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGCTGTAAAGTAAGAACCAGA	0.418000													4	64					0	0	1	0	0
VDAC3	7419	broad.mit.edu	37	8	42260890	42260890	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:42260890T>C	ENST00000392935.3	+	8	759	c.616T>C	c.(616-618)Tcc>Ccc	p.S206P	VDAC3_ENST00000521158.1_Missense_Mutation_p.S206P|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000022615.4_Missense_Mutation_p.S205P	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	205					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	GATTGAAACATCCATAAACCT	0.398000													7	252					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	49962953	49962953	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:49962953G>C	ENST00000281631.5	+	1	182	c.24G>C	c.(22-24)gaG>gaC	p.E8D	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.E8D|PARP8_ENST00000513738.1_Missense_Mutation_p.E8D|PARP8_ENST00000505697.2_Missense_Mutation_p.E8D|PARP8_ENST00000514067.2_Missense_Mutation_p.E8D|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000503665.1_Missense_Mutation_p.E8D	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	8						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAGGCAAGAGCGAATTCAGA	0.517000													4	186					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197111787	197111787	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:197111787A>T	ENST00000367409.4	-	3	1851	c.1595T>A	c.(1594-1596)aTa>aAa	p.I532K	ASPM_ENST00000294732.7_Missense_Mutation_p.I532K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	532					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGATTATTTATTACTTTTTC	0.318000													4	101					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27301762	27301762	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:27301762C>T	ENST00000397501.1	+	28	2996	c.2188C>T	c.(2188-2190)Ctc>Ttc	p.L730F	PTK2B_ENST00000420218.2_Missense_Mutation_p.L730F|PTK2B_ENST00000346049.5_Missense_Mutation_p.L730F|PTK2B_ENST00000397497.4_Missense_Mutation_p.L476F|PTK2B_ENST00000544172.1_Missense_Mutation_p.L730F|PTK2B_ENST00000338238.4_Missense_Mutation_p.L730F|PTK2B_ENST00000517339.1_Missense_Mutation_p.L730F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	730	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GCAAACCAACCTCCTGGCTCC	0.537000													15	96					0	0	1	0	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50725150	50725150	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:50725150G>T	ENST00000515869.1	-	6	1535	c.1415C>A	c.(1414-1416)aCa>aAa	p.T472K	ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Missense_Mutation_p.T4K|PGBD3_ENST00000508005.2_Missense_Mutation_p.T4K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.T472K|PGBD3_ENST00000603152.1_Missense_Mutation_p.T472K	NM_001277059.1	NP_001263988.1																					TAAACTTAGTGTTCGAGGCAT	0.378000													7	308					8.12818e-05	8.48351e-05	1	1	0
HS6ST2	90161	broad.mit.edu	37	X	131762617	131762617	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:131762617A>G	ENST00000370836.2	-	4	1867	c.1452T>C	c.(1450-1452)gaT>gaC	p.D484D	HS6ST2_ENST00000406696.3_Silent_p.D210D|HS6ST2_ENST00000521489.1_Silent_p.D524D|HS6ST2_ENST00000370837.1_Silent_p.D338D|HS6ST2_ENST00000370833.2_Silent_p.D378D	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	484						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ACAACTCCATATCCAGAAAAT	0.428000													6	563					0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11935564	11935564	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr16:11935564A>T	ENST00000571133.1	-	7	915	c.843T>A	c.(841-843)aaT>aaA	p.N281K	RSL1D1_ENST00000542106.1_Missense_Mutation_p.N61K	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	281					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTCTTCTTATTAAGCAAAG	0.383000													4	54					0	0	1	0	0
ZNF302	55900	broad.mit.edu	37	19	35173795	35173795	+	Silent	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:35173795C>A	ENST00000505365.2	+	3	459	c.123C>A	c.(121-123)gtC>gtA	p.V41V	ZNF302_ENST00000505242.1_Silent_p.V41V|ZNF302_ENST00000446502.2_Silent_p.V85V|ZNF302_ENST00000423823.2_Silent_p.V41V|ZNF302_ENST00000507959.1_Silent_p.V41V|ZNF302_ENST00000509528.1_Intron|ZNF302_ENST00000457781.2_Silent_p.V41V			Q9NR11	ZN302_HUMAN	zinc finger protein 302	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGAACCTGGTCTCTGTAGGTA	0.453000													6	263					0.217242	0.218386	1	1	0
SCN3A	6328	broad.mit.edu	37	2	165946662	165946662	+	Nonstop_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:165946662A>T	ENST00000360093.3	-	28	6492	c.6001T>A	c.(6001-6003)Taa>Aaa	p.*2001K	SCN3A_ENST00000540861.1_Nonstop_Mutation_p.*484K|SCN3A_ENST00000409101.3_Nonstop_Mutation_p.*1952K|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Nonstop_Mutation_p.*2001K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	0						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTTCTTTTTACTTTTGATTT	0.348000													3	9					0	0	1	0	0
TMEM92	162461	broad.mit.edu	37	17	48351884	48351884	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:48351884G>A	ENST00000300433.3	+	2	132	c.22G>A	c.(22-24)Ggc>Agc	p.G8S	TMEM92_ENST00000507382.1_Missense_Mutation_p.G8S	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	8						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						TTGGGTCCCCGGCCTCGCGCC	0.612000													3	51					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185906162	185906162	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:185906162C>T	ENST00000265022.3	-	22	2463	c.1924G>A	c.(1924-1926)Ggg>Agg	p.G642R	DGKG_ENST00000344484.4_Missense_Mutation_p.G617R|DGKG_ENST00000382164.4_Missense_Mutation_p.G603R|DGKG_ENST00000544847.1_Missense_Mutation_p.G583R	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	642					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCCCAACCCCATCACACTGG	0.527000													5	501					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119909965	119909965	+	Silent	SNP	T	T	C	rs139079166	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:119909965T>C	ENST00000327554.2	+	3	802	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	113										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGACACCTTATTGAGGTAAGT	0.458000													168	552					0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100137322	100137322	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:100137322A>T	ENST00000394897.1	-	2	198	c.116T>A	c.(115-117)aTa>aAa	p.I39K	RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000394899.2_Missense_Mutation_p.I39K|ADH6_ENST00000237653.7_Missense_Mutation_p.I39K			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	39					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ttttACCTTTATGCGAACTTC	0.393000													4	74					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68906539	68906539	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:68906539C>A	ENST00000262340.5	-	6	693	c.640G>T	c.(640-642)Gca>Tca	p.A214S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	214					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AACTCACCTGCTTGCAGTGGT	0.348000													21	116					2.27525e-19	2.48328e-19	1	1	0
EFCC1	79825	broad.mit.edu	37	3	128757716	128757716	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:128757716C>T	ENST00000436022.2	+	7	1633	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	EFCC1_ENST00000480450.1_Silent_p.L545L	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1																		GCTGAGCACGCTGGACGCTTT	0.547000													19	88					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718022	142718022	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	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	321					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111020091	111020091	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:111020091C>T	ENST00000262839.2	-	11	3290	c.2372G>A	c.(2371-2373)cGg>cAg	p.R791Q		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	791					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGATTTGGCCCGAGCCCCACC	0.483000													4	601					0	0	1	0	0
MFAP5	8076	broad.mit.edu	37	12	8802129	8802129	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:8802129C>T	ENST00000359478.2	-	9	564	c.377G>A	c.(376-378)cGt>cAt	p.R126H	MFAP5_ENST00000543369.1_Missense_Mutation_p.R104H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R101H|MFAP5_ENST00000540087.1_Missense_Mutation_p.R116H|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000396549.2_Missense_Mutation_p.R116H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	126						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ACAGACAAGACGAGAGCAGAT	0.443000													88	397					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458407	20458407	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr22:20458407C>T	ENST00000426804.1	-	1	3379	c.2895G>A	c.(2893-2895)acG>acA	p.T965T		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GGCAGGCTTCCGTCTTGGTAT	0.607000													11	59					0	0	1	0	0
TGIF1	7050	broad.mit.edu	37	18	3457635	3457635	+	Silent	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr18:3457635G>T	ENST00000472042.1	+	2	1440	c.456G>T	c.(454-456)gtG>gtT	p.V152V	TGIF1_ENST00000401449.1_Silent_p.V152V|TGIF1_ENST00000400167.2_Silent_p.V152V|TGIF1_ENST00000345133.5_Silent_p.V152V|TGIF1_ENST00000343820.5_Silent_p.V172V|TGIF1_ENST00000548489.2_Silent_p.V186V|TGIF1_ENST00000407501.2_Silent_p.V172V|TGIF1_ENST00000405385.3_Silent_p.V152V|TGIF1_ENST00000330513.5_Silent_p.V301V|TGIF1_ENST00000551541.1_Silent_p.V152V			Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	301					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GTCCATCAGTGATCTGCCATA	0.537000													9	87					1.58986e-06	1.68702e-06	1	1	0
TM6SF1	53346	broad.mit.edu	37	15	83784595	83784595	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:83784595A>T	ENST00000322019.9	+	3	470		c.e3-1		TM6SF1_ENST00000379390.6_Splice_Site|TM6SF1_ENST00000565774.1_Splice_Site|TM6SF1_ENST00000564988.1_Splice_Site|TM6SF1_ENST00000379386.4_Splice_Site			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1							integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TCTTTGCTCTAGTGTATGCAG	0.403000													5	149					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11773280	11773280	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr16:11773280G>T	ENST00000356957.3	-	13	2836	c.2729C>A	c.(2728-2730)gCc>gAc	p.A910D	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.A883D			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	910					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTTTTCTGAGGCATCGGCCAG	0.617000													74	166					4.35598e-54	4.8092e-54	1	1	0
UBXN10	127733	broad.mit.edu	37	1	20517654	20517654	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:20517654G>A	ENST00000375099.3	+	2	684	c.600G>A	c.(598-600)ctG>ctA	p.L200L		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	200	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CAAGGTTGCTGCTTGCTGTTA	0.493000													5	397					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117672374	117672374	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:117672374A>T	ENST00000317775.6	-	21	3916	c.3231T>A	c.(3229-3231)gcT>gcA	p.A1077A	NOS1_ENST00000338101.4_Silent_p.A1111A|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1077	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGTTACCTAAAGCCGTGTTCC	0.587000													35	113					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212180017	212180017	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:212180017A>T	ENST00000366994.3	-	7	947	c.843T>A	c.(841-843)aaT>aaA	p.N281K	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.N281K|INTS7_ENST00000440600.2_Missense_Mutation_p.N232K|INTS7_ENST00000366993.3_Missense_Mutation_p.N281K	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	281					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GTGGTGTTTTATTAGCAAGTA	0.294000													4	89					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961307	30961307	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr21:30961307C>T	ENST00000399914.1	-	10	1897	c.1376G>A	c.(1375-1377)aGa>aAa	p.R459K	GRIK1_ENST00000399907.1_Missense_Mutation_p.R474K|GRIK1_ENST00000389124.2_Missense_Mutation_p.R474K|GRIK1_ENST00000327783.4_Missense_Mutation_p.R474K|GRIK1_ENST00000389125.3_Missense_Mutation_p.R459K|GRIK1_ENST00000399909.1_Missense_Mutation_p.R459K|GRIK1_ENST00000309434.7_Missense_Mutation_p.R476K|GRIK1_ENST00000399913.1_Missense_Mutation_p.R474K|GRIK1_ENST00000535441.1_Missense_Mutation_p.R476K			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	474					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCCTTCAAATCTGTCATTTCC	0.368000													27	122					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55405931	55405931	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:55405931A>T	ENST00000314612.2	+	1	98	c.98A>T	c.(97-99)tAc>tTc	p.Y33F		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGTTTTGCTACATTGCTATT	0.363000													5	215					0	0	1	0	0
TCP1	6950	broad.mit.edu	37	6	160206440	160206440	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:160206440T>C	ENST00000321394.7	-	5	746	c.466A>G	c.(466-468)Atg>Gtg	p.M156V	TCP1_ENST00000392168.2_Start_Codon_SNP_p.M1V|TCP1_ENST00000420894.2_Missense_Mutation_p.M156V|TCP1_ENST00000544255.1_Intron	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	156					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TTGGAAGACATGGATGTCTTA	0.373000													4	236					0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202401045	202401045	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:202401045T>A	ENST00000439140.1	-	13	1251		c.e13-2		ALS2CR11_ENST00000286195.3_Splice_Site|ALS2CR11_ENST00000450242.1_Splice_Site|ALS2CR11_ENST00000439802.1_Intron	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATCCAGTAACTAGAAAATACA	0.313000													4	81					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369938	56369938	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:56369938G>A	ENST00000301295.6	+	3	1601	c.1179G>A	c.(1177-1179)caG>caA	p.Q393Q	NLRP4_ENST00000346986.5_Silent_p.Q393Q|NLRP4_ENST00000587891.1_Silent_p.Q318Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	393	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGCAAACCCAGCACCAGCTGA	0.572000													3	91					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451743	55451743	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:55451743G>A	ENST00000588756.1	-	6	930	c.444C>T	c.(442-444)gaC>gaT	p.D148D	NLRP7_ENST00000340844.2_Silent_p.D148D|NLRP7_ENST00000328092.5_Silent_p.D148D|NLRP7_ENST00000592784.1_Silent_p.D148D|NLRP7_ENST00000448121.2_Silent_p.D148D|NLRP7_ENST00000446217.1_Silent_p.D176D|NLRP7_ENST00000590030.1_Silent_p.D148D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	148							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGTGACGTCGTCATGGAAAT	0.493000													368	645					0	0	1	0	0
IPMK	253430	broad.mit.edu	37	10	59955942	59955942	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:59955942T>C	ENST00000373935.3	-	6	1468	c.1146A>G	c.(1144-1146)cgA>cgG	p.R382R		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	382						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AATCTATCATTCGCACTTCTA	0.373000													3	271					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124683	86124683	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:86124683C>T	ENST00000394518.2	+	7	3479	c.3384C>T	c.(3382-3384)gcC>gcT	p.A1128A	AKAP13_ENST00000361243.2_Silent_p.A1128A	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1128					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAAGAATGCCGTTCTAGGTT	0.488000													25	179					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34962088	34962088	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:34962088C>T	ENST00000329357.5	+	1	1176	c.1140C>T	c.(1138-1140)taC>taT	p.Y380Y		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	380										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTGGTAAATACCATTTTTGGG	0.552000													23	80					0	0	1	0	0
TRMT12	55039	broad.mit.edu	37	8	125463208	125463208	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:125463208A>T	ENST00000328599.3	+	1	161	c.40A>T	c.(40-42)Agt>Tgt	p.S14C	TRMT12_ENST00000521443.1_3'UTR	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	14					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGAGAGAGAAAGTGGGAAGCC	0.502000													4	316					0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57272789	57272789	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:57272789T>C	ENST00000262293.4	+	7	1154	c.842T>C	c.(841-843)gTt>gCt	p.V281A		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	281										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCGACTCGAGTTACAAACGTC	0.393000													3	131					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62288627	62288627	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:62288627T>C	ENST00000371158.2	+	15	1808	c.1694T>C	c.(1693-1695)aTt>aCt	p.I565T	INADL_ENST00000316485.6_Missense_Mutation_p.I565T	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	565	PDZ 4.				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						CTGCTGCCTATTCACACTCTG	0.428000													97	298					0	0	1	0	0
SHMT2	6472	broad.mit.edu	37	12	57627609	57627609	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:57627609G>A	ENST00000328923.3	+	10	1653	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	SHMT2_ENST00000414700.3_Missense_Mutation_p.E380K|SHMT2_ENST00000553474.1_Missense_Mutation_p.E380K|SHMT2_ENST00000393827.4_Missense_Mutation_p.E305K|SHMT2_ENST00000449049.3_Missense_Mutation_p.E380K|SHMT2_ENST00000557487.1_Missense_Mutation_p.E391K	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	401						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCGGGTGCTAGAGCTTGTATC	0.607000													13	62					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102822797	102822797	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:102822797C>T	ENST00000260302.3	-	5	771	c.743G>A	c.(742-744)gGc>gAc	p.G248D	MMP13_ENST00000340273.4_Missense_Mutation_p.G248D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	248					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.G248D(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTGGCTTTTGCCGGTGTAGGT	0.448000													6	621					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572000													4	319					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89712017	89712017	+	Splice_Site	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:89712017G>A	ENST00000371953.3	+	6	1991		c.e6+1		PTEN_ENST00000472832.1_Splice_Site	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|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)		GGAACTTGCAGTAAGTGCTTG	0.343000		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)			81	414					0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124496890	124496890	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:124496890G>T	ENST00000539644.1	+	6	2029	c.199G>T	c.(199-201)Gat>Tat	p.D67Y	RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.D67Y|ZNF664_ENST00000392404.3_Missense_Mutation_p.D67Y|ZNF664_ENST00000337815.4_Missense_Mutation_p.D67Y			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TTGTGGTAAGGATTTTAGCAC	0.373000													5	265					3.59834e-05	3.79714e-05	1	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52747336	52747336	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:52747336T>C	ENST00000287727.3	+	10	3045	c.2873T>C	c.(2872-2874)gTg>gCg	p.V958A	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.V899A|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.V958A	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	958					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TCTGTAGATGTGAACAGGAAG	0.373000													9	124					0	0	1	0	0
SPRY4	81848	broad.mit.edu	37	5	141694601	141694601	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:141694601G>A	ENST00000344120.4	-	3	328	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SPRY4_ENST00000434127.2_Missense_Mutation_p.R25W	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	25					multicellular organismal development	cytoplasm|ruffle membrane	protein binding	p.R48W(1)		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)			TGGGACATCCGGCTGTCAAGA	0.602000									Testicular Cancer, Familial Clustering of				37	49					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100949947	100949947	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:100949947A>G	ENST00000193391.7	-	16	3463	c.3276T>C	c.(3274-3276)tgT>tgC	p.C1092C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1092	EGF-like 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAAATTCCTCACAGTGCTTGC	0.488000													38	180					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135744718	135744718	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:135744718G>A	ENST00000375845.3	-	7	1754	c.1724C>T	c.(1723-1725)cCg>cTg	p.P575L	MAP3K19_ENST00000392915.1_Missense_Mutation_p.P592L|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P462L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TCCCAAAGCCGGGAAAATTTG	0.433000													27	69					0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58290117	58290117	+	Splice_Site	SNP	A	A	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:58290117A>T	ENST00000391702.3	+	4	401		c.e4-1		ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_Splice_Site|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396154.2_Splice_Site	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		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;0.026)		CTTTGCTTTTAGGTTGTTGGC	0.433000													6	163					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186578723	186578723	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:186578723G>A	ENST00000431808.1	-	7	685	c.122C>T	c.(121-123)gCg>gTg	p.A41V	SORBS2_ENST00000393528.3_Missense_Mutation_p.A87V|SORBS2_ENST00000355634.5_Missense_Mutation_p.A141V|SORBS2_ENST00000437304.2_Missense_Mutation_p.A220V|SORBS2_ENST00000319471.9_Missense_Mutation_p.A127V|SORBS2_ENST00000284776.7_Missense_Mutation_p.A41V|SORBS2_ENST00000449407.2_Missense_Mutation_p.A127V|SORBS2_ENST00000448662.2_Missense_Mutation_p.A110V			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	41						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CAGAGACTGCGCATGCTGGGG	0.488000													3	93					0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149959698	149959698	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:149959698T>A	ENST00000367411.2	-	2	246		c.e2-2		KATNA1_ENST00000335643.8_Splice_Site|KATNA1_ENST00000335647.5_5'UTR	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1						cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AACTGTAAGCTAAAAAGAAGA	0.323000													4	132					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133764245	133764245	+	Splice_Site	SNP	T	T	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:133764245T>A	ENST00000356838.3	-	4	244		c.e4-2		TMEM71_ENST00000377901.4_Splice_Site|TMEM71_ENST00000523829.1_Splice_Site|TMEM71_ENST00000517538.1_Splice_Site	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71							integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	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)			CAGGTGAAACTAAGAAGGAAA	0.438000													5	122					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	205					0	0	1	0	0
SLC39A14	23516	broad.mit.edu	37	8	22273349	22273349	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:22273349T>G	ENST00000381237.1	+	6	937	c.818T>G	c.(817-819)gTg>gGg	p.V273G	SLC39A14_ENST00000240095.6_Missense_Mutation_p.V273G|SLC39A14_ENST00000359741.5_Missense_Mutation_p.V273G|SLC39A14_ENST00000289952.5_Missense_Mutation_p.V273G	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	273						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GAGGAGGGGGTGATGGAGAAG	0.577000													11	219					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216298131	216298131	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:216298131T>G	ENST00000354785.4	-	3	700	c.331A>C	c.(331-333)Act>Cct	p.T111P	FN1_ENST00000336916.4_Missense_Mutation_p.T111P|FN1_ENST00000443816.1_Missense_Mutation_p.T111P|FN1_ENST00000432072.2_Missense_Mutation_p.T111P|FN1_ENST00000356005.4_Missense_Mutation_p.T111P|FN1_ENST00000421182.1_Missense_Mutation_p.T111P|FN1_ENST00000446046.1_Missense_Mutation_p.T111P|FN1_ENST00000359671.1_Missense_Mutation_p.T111P|FN1_ENST00000357867.4_Missense_Mutation_p.T111P|FN1_ENST00000357009.2_Missense_Mutation_p.T111P|FN1_ENST00000346544.3_Missense_Mutation_p.T111P|FN1_ENST00000345488.5_Missense_Mutation_p.T111P|FN1_ENST00000323926.6_Missense_Mutation_p.T111P|FN1_ENST00000426059.1_Missense_Mutation_p.T111P			P02751	FINC_HUMAN	fibronectin 1	111	Fibrin- and heparin-binding 1.|Fibronectin type-I 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCTCATAAGTGTCACCCACT	0.498000													28	170					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990712	63990712	+	Nonsense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:63990712A>C	ENST00000370657.4	-	4	777	c.744T>G	c.(742-744)taT>taG	p.Y248*	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	248					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CTCCAGTGTGATACAAGCCAT	0.403000													14	51					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47693859	47693859	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:47693859G>C	ENST00000406134.1	+	10	1635	c.1573G>C	c.(1573-1575)Gta>Cta	p.V525L	MSH2_ENST00000233146.2_Missense_Mutation_p.V525L|MSH2_ENST00000543555.1_Missense_Mutation_p.V459L			P43246	MSH2_HUMAN	mutS homolog 2	525					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACTTTCGTGTAACCTGTAA	0.353000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	165					0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101014489	101014489	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr2:101014489G>C	ENST00000264249.3	-	5	693	c.308C>G	c.(307-309)aCt>aGt	p.T103S	CHST10_ENST00000542617.1_Missense_Mutation_p.T151S|CHST10_ENST00000409701.1_Missense_Mutation_p.T103S	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	103					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GGAGACAGGAGTGTGCGAGAG	0.517000													6	437					0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168440859	168440859	+	Silent	SNP	G	G	A	rs147571413	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:168440859G>A	ENST00000443060.2	+	7	1000	c.609G>A	c.(607-609)acG>acA	p.T203T	KIF25_ENST00000351261.3_Silent_p.T203T|KIF25_ENST00000354419.2_Silent_p.T203T			Q9UIL4	KIF25_HUMAN	kinesin family member 25	203	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGATAATTACGGTGACTCTAA	0.512000													5	30					0	0	1	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118005505	118005505	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:118005505C>T	ENST00000310754.4	-	1	1231	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	349					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.G349*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						ACTCCCACTCCGTTTTCTGTT	0.393000													64	171					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94861313	94861313	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:94861313C>T	ENST00000358746.2	-	14	1497	c.1199G>A	c.(1198-1200)gGt>gAt	p.G400D		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	400							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCAAATGAACCTTTGTTCCG	0.343000													8	388					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11155902	11155902	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:11155902delG	ENST00000544779.1	-	3	290	c.285delC	c.(283-285)agfs	p.S95fs	EXOSC10_ENST00000376936.4_Frame_Shift_Del_p.S95fs|EXOSC10_ENST00000304457.7_Frame_Shift_Del_p.S95fs			Q01780	EXOSX_HUMAN	exosome component 10	95					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCTTAATGTTGCTGCGACACC	0.393													114	415	---	---	---	---					
VPS13D	55187	broad.mit.edu	37	1	12422832	12422833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:12422832_12422833insC	ENST00000358136.3	+	51	10328_10329	c.10198_10199insC	c.(10198-10200)cccfs	p.P3400fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3399					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGTCATCTTTGCCCCCCGTTAC	0.426													20	1063	---	---	---	---					
PRAMEF6	440561	broad.mit.edu	37	1	13109019	13109020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:13109019_13109020insG	ENST00000376182.1	-	4	1348_1349	c.1249_1250insC	c.(1249-1251)ggafs	p.G417fs	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000414205.2_Frame_Shift_Ins_p.G417fs			Q5VXH4	PRAM6_HUMAN	PRAME family member 6	417										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAACTCTCCCGGGGGGCAGGA	0.520													8	475	---	---	---	---					
PRAMEF26	645359	broad.mit.edu	37	1	13219469	13219470	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:13219469_13219470insT	ENST00000423177.1	-	1	111_112	c.112_113insA	c.(112-114)cagfs	p.Q38fs																	breast(1)|lung(1)	2						TCCTGCACTGGTTTTTTGTTCC	0.505													7	951	---	---	---	---					
NBPF1	55672	broad.mit.edu	37	1	16901653	16901654	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:16901653_16901654insG	ENST00000430580.2	-	20	3077_3078	c.2192_splice	c.e20+1	p.PG730_splice	NBPF1_ENST00000432949.1_Splice_Site_p.PG188_splice|NBPF1_ENST00000287968.8_Splice_Site_p.PG95_splice	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	730	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGTGTTACCTGGGGGCAGACG	0.431													8	2380	---	---	---	---					
LUZP1	7798	broad.mit.edu	37	1	23419318	23419319	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:23419318_23419319insG	ENST00000302291.4	-	4	2237_2238	c.1436_1437insC	c.(1435-1437)cgcfs	p.R479fs	LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.R479fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.R479fs			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	479						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCTGAGCAGCCGGGGGGTAGCG	0.569													7	670	---	---	---	---					
UBXN11	91544	broad.mit.edu	37	1	26608843	26608844	+	In_Frame_Ins	INS	-	-	GGGACA	rs6667693	by1000genomes	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:26608843_26608844insGGGACA	ENST00000314675.7	-	11	1228_1229	c.1149_1150insTGTCCC	c.(1147-1152)ccgtcc>ccTGTCCCgtcc	p.382_383insPV	UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPV|UBXN11_ENST00000374222.1_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPV	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	502						cytoplasm|cytoskeleton		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactggggc	0.733													4	7	---	---	---	---					
RPS6KA1	6195	broad.mit.edu	37	1	26885310	26885311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:26885310_26885311insC	ENST00000374168.2	+	14	1251_1252	c.1097_1098insC	c.(1096-1098)accfs	p.T366fs	RPS6KA1_ENST00000530003.1_Frame_Shift_Ins_p.T350fs|RPS6KA1_ENST00000526792.1_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Ins_p.T355fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Ins_p.T274fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Ins_p.T375fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	366	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCCCCAGGCATCCCCCCCAGCG	0.673													8	148	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|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"""								10	467	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													8	554	---	---	---	---					
KHDRBS1	10657	broad.mit.edu	37	1	32503458	32503459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:32503458_32503459insG	ENST00000327300.7	+	6	1095_1096	c.928_929insG	c.(928-930)gggfs	p.G310fs	KHDRBS1_ENST00000492989.1_Frame_Shift_Ins_p.G271fs|KHDRBS1_ENST00000307714.8_3'UTR	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	311	---	---	---	---					
MARCKSL1	65108	broad.mit.edu	37	1	32800539	32800540	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:32800539_32800540insG	ENST00000329421.7	-	2	591_592	c.246_247insC	c.(244-249)ccaggafs	p.G83fs		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	83						plasma membrane	calmodulin binding	p.K83fs*33(2)		breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGGTCTCCTTGGGGGGGACCT	0.589													7	99	---	---	---	---					
PHC2	1912	broad.mit.edu	37	1	33799791	33799792	+	Frame_Shift_Ins	INS	-	-	G	rs34753508		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:33799791_33799792insG	ENST00000257118.5	-	9	1710_1711	c.1657_1658insC	c.(1657-1659)gaafs	p.E553fs	PHC2_ENST00000373416.1_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000373422.3_Frame_Shift_Ins_p.E159fs|PHC2_ENST00000431992.1_Frame_Shift_Ins_p.E524fs|PHC2_ENST00000373418.3_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000419414.2_Frame_Shift_Ins_p.E554fs	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	553					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCACCATTCTGGGGGGCAGTG	0.589													8	726	---	---	---	---					
BMP8A	353500	broad.mit.edu	37	1	39988691	39988692	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:39988691_39988692insC	ENST00000331593.5	+	6	1307_1308	c.961_962insC	c.(961-963)cccfs	p.P321fs	RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	321					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGGTCATCGCCCCCCAAGGC	0.644													7	397	---	---	---	---					
HIVEP3	59269	broad.mit.edu	37	1	42050006	42050007	+	Frame_Shift_Ins	INS	-	-	G	rs138785392		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:42050006_42050007insG	ENST00000372584.1	-	3	1476_1477	c.462_463insC	c.(460-465)ccaggafs	p.G155fs	HIVEP3_ENST00000429157.2_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000247584.5_Frame_Shift_Ins_p.G155fs|HIVEP3_ENST00000372583.1_Frame_Shift_Ins_p.G155fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	155					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGAAGGTCCTCGGGGGGAATGA	0.604													7	432	---	---	---	---					
SZT2	23334	broad.mit.edu	37	1	43896326	43896327	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:43896326_43896327insG	ENST00000562955.1	+	31	4469_4470	c.4469_4470insG	c.(4468-4470)tggfs	p.W1490fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.W648fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1547						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCAGTATCTTGGGGGGCGACT	0.609													13	459	---	---	---	---					
DPH2	1802	broad.mit.edu	37	1	44437613	44437614	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:44437613_44437614insC	ENST00000255108.3	+	4	1211_1212	c.1039_1040insC	c.(1039-1041)cccfs	p.P347fs	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Frame_Shift_Ins_p.P212fs	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	347					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGGTGCTCTAGCCCCCCAGCTT	0.609													7	257	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	44878032	44878033	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:44878032_44878033insC	ENST00000355387.2	+	2	713_714	c.263_264insC	c.(262-264)tccfs	p.S88fs	RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	88					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AATCGTGATTTCCCCCCTTCTC	0.515													12	1889	---	---	---	---					
LRRC41	10489	broad.mit.edu	37	1	46751494	46751495	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:46751494_46751495insG	ENST00000343304.6	-	4	1319_1320	c.1034_1035insC	c.(1033-1035)cgcfs	p.R345fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	345										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGAGGTGGCTGGGGGGTGCAG	0.619													13	296	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	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													26	433	---	---	---	---					
DAB1	1600	broad.mit.edu	37	1	57491653	57491654	+	Splice_Site	INS	-	-	G	rs138352976		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:57491653_57491654insG	ENST00000371236.2	-	10	1049_1050		c.e10+1		DAB1_ENST00000439789.2_Splice_Site|DAB1_ENST00000371234.4_Splice_Site|DAB1_ENST00000371231.1_Splice_Site|DAB1_ENST00000414851.2_Splice_Site|DAB1_ENST00000420954.2_Splice_Site|DAB1_ENST00000485760.1_Splice_Site			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)						cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCATACTTACGGGGGGAGAGG	0.465													10	579	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs	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													14	290	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)cccfs	p.P1233fs	CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport	integral to membrane		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554													8	215	---	---	---	---					
JAK1	3716	broad.mit.edu	37	1	65325832	65325833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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								16	369	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													34	675	---	---	---	---					
HIPK1	204851	broad.mit.edu	37	1	114514537	114514538	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:114514537_114514538insG	ENST00000369558.1	+	15	3337_3338	c.3105_3106insG	c.(3103-3108)cgggggfs	p.RG1035fs	HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.RG990fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.RG990fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.RG1035fs|HIPK1_ENST00000369559.4_Frame_Shift_Ins_p.RG1035fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.RG1001fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.RG641fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.RG641fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.RG661fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1035	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		GAGCTCAACGCGGGGGGACCAG	0.525													8	236	---	---	---	---					
HIPK1	204851	broad.mit.edu	37	1	114515697	114515698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:114515697_114515698insC	ENST00000369558.1	+	16	3428_3429	c.3196_3197insC	c.(3196-3198)cccfs	p.P1066fs	HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.P1066fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.P1032fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.P692fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1066	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CAGCAACCCAGCCCCCCGCAGG	0.614													8	475	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000491700.1_3'UTR			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		GAGGGGCTGATCCCCCCCTACG	0.559													7	260	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1624-1629)gaccccfs	p.DP542fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	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													21	469	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													12	952	---	---	---	---					
NBPF20	100288142	broad.mit.edu	37	1	148342471	148342472	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:148342471_148342472insG	ENST00000369202.1	-	5	761_762	c.566_splice	c.e5+1	p.PG188_splice	NBPF20_ENST00000414710.2_Splice_Site_p.PG188_splice					neuroblastoma breakpoint family, member 20									p.P188P(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CAGTGTTACCTGGGGGCAGATG	0.431													7	1427	---	---	---	---					
MTMR11	10903	broad.mit.edu	37	1	149900795	149900796	+	Splice_Site	INS	-	-	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:149900795_149900796insA	ENST00000369140.3	-	17	2074		c.e17-2		MTMR11_ENST00000439741.2_3'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000406732.3_3'UTR	NM_181873.3	NP_870988.2	A4FU01	MTMRB_HUMAN	myotubularin related protein 11								phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|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)			GGGATTGGCCTAAAAAAACCGA	0.381													7	273	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_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													13	354	---	---	---	---					
HAX1	10456	broad.mit.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(421-426)ttggggfs	p.LG141fs	HAX1_ENST00000457918.2_Frame_Shift_Ins_p.LG93fs|HAX1_ENST00000532105.1_Frame_Shift_Ins_p.LG13fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.LG149fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	141	Involved in HCLS1 binding.		F -> L (in SCN3; mild form).			actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome				15	278	---	---	---	---					
TDRD10	126668	broad.mit.edu	37	1	154493907	154493908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:154493907_154493908insC	ENST00000368482.4	+	6	1159_1160	c.321_322insC	c.(319-324)agccccfs	p.SP107fs	TDRD10_ENST00000368480.3_Frame_Shift_Ins_p.SP107fs|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	107	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGCAAAAGGCCCCCCAAGAG	0.520													13	521	---	---	---	---					
ASH1L	55870	broad.mit.edu	37	1	155491185	155491186	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:155491185_155491186insT	ENST00000368346.3	-	2	764_765	c.125_126insA	c.(124-126)aacfs	p.N42fs	ASH1L_ENST00000548830.1_Frame_Shift_Ins_p.N42fs|ASH1L_ENST00000392403.3_Frame_Shift_Ins_p.N42fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	42					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCTCCTTTGTGTTTTTTTCTAG	0.431													14	1489	---	---	---	---					
BCAN	63827	broad.mit.edu	37	1	156626159	156626160	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:156626159_156626160insG	ENST00000329117.4	+	9	2364_2365	c.2028_2029insG	c.(2026-2031)taggggfs	p.*G676fs	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	676	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCCTGGCTATGGGGGGGACCT	0.624													17	725	---	---	---	---					
NES	10763	broad.mit.edu	37	1	156642803	156642804	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:156642803_156642804insG	ENST00000368223.3	-	4	1308_1309	c.1176_1177insC	c.(1174-1179)cccaccfs	p.T393fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	393	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTGAGGTGTGGGGGGGATGG	0.594													7	155	---	---	---	---					
ISG20L2	81875	broad.mit.edu	37	1	156694022	156694023	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													23	275	---	---	---	---					
MRPL24	79590	broad.mit.edu	37	1	156708444	156708445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													14	318	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)ccagaafs	p.E234fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569													15	476	---	---	---	---					
TNN	63923	broad.mit.edu	37	1	175096158	175096159	+	Frame_Shift_Ins	INS	-	-	C	rs59588723	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													7	474	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(2)|p.L408L(2)		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						TCTTTGCTCCTGGGGGGAGACA	0.574													7	580	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:181549749_181549750insC	ENST00000526775.1	+	6	953_954	c.788_789insC	c.(787-789)gccfs	p.A263fs	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505													8	1031	---	---	---	---					
SWT1	54823	broad.mit.edu	37	1	185171842	185171844	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:185171842_185171844delAAG	ENST00000367500.4	+	11	1745_1747	c.1580_1582delAAG	c.(1579-1584)aaa>a	p.KE527del	SWT1_ENST00000367501.3_In_Frame_Del_p.KE527del	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	527										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TCACTCAGTAAAGAAGAATTGAG	0.365													7	66	---	---	---	---					
C1orf106	55765	broad.mit.edu	37	1	200880644	200880647	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:200880644_200880647delCACT	ENST00000367342.4	+	9	1478_1481	c.1278_1281delCACT	c.(1276-1281)ccfs	p.PT426fs	C1orf106_ENST00000413687.2_Frame_Shift_Del_p.PT341fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	426										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCCGCCGCCCCACTCACTACACGG	0.667													56	234	---	---	---	---					
CACNA1S	779	broad.mit.edu	37	1	201046125	201046126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:201046125_201046126insC	ENST00000362061.3	-	12	1975_1976	c.1749_1750insG	c.(1747-1752)ggggtafs	p.V584fs	CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	584					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTCATACCTCCCCCCAAAGA	0.574													9	472	---	---	---	---					
NAV1	89796	broad.mit.edu	37	1	201779175	201779176	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:201779175_201779176insC	ENST00000367296.4	+	23	4923_4924	c.4503_4504insC	c.(4501-4506)gaccccfs	p.DP1501fs	NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs	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													8	392	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													10	272	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545													13	698	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR	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													10	488	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													8	670	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:40366704_40366705insG	ENST00000406785.1	-	7	2462_2463	c.2273_2274insC	c.(2272-2274)cacfs	p.H758fs	SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515													10	427	---	---	---	---					
FBXO48	554251	broad.mit.edu	37	2	68691369	68691370	+	Frame_Shift_Ins	INS	-	-	C	rs36078393		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:68691369_68691370insC	ENST00000377957.2	-	4	846_847	c.439_440insG	c.(439-441)aatfs	p.N147fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	147										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTCTAGAATTTCCCCCCATGTA	0.386													8	566	---	---	---	---					
ANTXR1	84168	broad.mit.edu	37	2	69409763	69409764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:69409763_69409764insC	ENST00000303714.4	+	16	1646_1647	c.1324_1325insC	c.(1324-1326)cccfs	p.P442fs		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	442					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCGGCCTTCTTCCCCCCGGAAG	0.421									Familial Infantile Hemangioma				8	420	---	---	---	---					
SLC4A5	57835	broad.mit.edu	37	2	74480126	74480127	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:74480126_74480127insG	ENST00000394019.2	-	15	1639_1640	c.1242_1243insC	c.(1240-1245)ccagaafs	p.E415fs	SLC4A5_ENST00000377632.1_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000377634.4_Frame_Shift_Ins_p.E415fs|SLC4A5_ENST00000359484.4_Frame_Shift_Ins_p.E351fs|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_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_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													8	243	---	---	---	---					
PCGF1	84759	broad.mit.edu	37	2	74732899	74732900	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:74732899_74732900insG	ENST00000233630.6	-	6	1442		c.e6-2		PCGF1_ENST00000480844.2_Splice_Site	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGCCAGAACTGGGGGGAAATA	0.530													7	594	---	---	---	---					
TCF7L1	83439	broad.mit.edu	37	2	85536195	85536196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:85536195_85536196insC	ENST00000282111.3	+	12	1652_1653	c.1377_1378insC	c.(1375-1380)ctccccfs	p.LP459fs		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	459					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TTCAGTACCTGCCCCCCGAGAA	0.614													11	297	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													8	511	---	---	---	---					
EDAR	10913	broad.mit.edu	37	2	109539836	109539837	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:109539836_109539837insG	ENST00000409271.1	-	6	872_873	c.429_430insC	c.(427-432)ccacacfs	p.H144fs	EDAR_ENST00000258443.2_Frame_Shift_Ins_p.H144fs|EDAR_ENST00000376651.1_Frame_Shift_Ins_p.H144fs			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	144					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCCTTGGTGTTGGGGGGTGCCA	0.535													12	482	---	---	---	---					
UGGT1	56886	broad.mit.edu	37	2	128867246	128867247	+	Frame_Shift_Ins	INS	-	-	T	rs138042550		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:128867246_128867247insT	ENST00000375990.3	+	5	778_779	c.375_376insT	c.(373-378)tcttttfs	p.SF125fs	UGGT1_ENST00000259253.6_Frame_Shift_Ins_p.SF149fs			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	149					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GATGTAATTCGTTTTTTTCAGT	0.371													7	353	---	---	---	---					
VIL1	7429	broad.mit.edu	37	2	219301230	219301231	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:219301230_219301231insC	ENST00000248444.5	+	16	1940_1941	c.1852_1853insC	c.(1852-1854)cccfs	p.P618fs	VIL1_ENST00000392114.2_Frame_Shift_Ins_p.P307fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	618	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGGTCATCACCCCCCGGCTC	0.500													9	550	---	---	---	---					
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-939)tccfs	p.S313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.																TCAGTGCCATGCCCCCCCAAGG	0.619													7	132	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|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													33	436	---	---	---	---					
DGKD	8527	broad.mit.edu	37	2	234365951	234365952	+	Frame_Shift_Ins	INS	-	-	G	rs35538077		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:234365951_234365952insG	ENST00000264057.2	+	21	2569_2570	c.2557_2558insG	c.(2557-2559)gggfs	p.G853fs	DGKD_ENST00000409813.3_Frame_Shift_Ins_p.G809fs	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	853					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AACCAACTTCTGGGGGGGTACC	0.579													9	187	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													10	357	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000419585.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				22	54	---	---	---	---					
VHL	7428	broad.mit.edu	37	3	10191522	10191525	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:10191522_10191525delCTGA	ENST00000256474.2	+	3	1355_1358	c.515_518delCTGA	c.(514-519)cgfs	p.PE172fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.PE131fs|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	172					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.P172fs*30(4)|p.P172fs*39(2)|p.N174fs*41(1)|p.E173_R176del(1)|p.V170fs*29(1)|p.E173*(1)|p.P172_E173del(1)|p.E173fs*>42(1)|p.E173fs*26(1)|p.K171fs*43(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)		CTAGTCAAGCCTGAGAATTACAGG	0.525		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				20	78	---	---	---	---					
NKTR	4820	broad.mit.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:42679035_42679036insC	ENST00000232978.8	+	13	2027_2028	c.1839_1840insC	c.(1837-1842)agccccfs	p.SP613fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	613					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)		TGAGTGACAGTCCCCCCCCTTC	0.421													23	243	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47125805	47125805	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:47125805delG	ENST00000409792.3	-	12	5507	c.5465delC	c.(5464-5466)cafs	p.P1822fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTGAATAATTGGAAGTACTTT	0.383			"""N, F, S, Mis"""		clear cell renal carcinoma								18	87	---	---	---	---					
BAP1	8314	broad.mit.edu	37	3	52436801	52436803	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:52436801_52436803delCTT	ENST00000460680.1	-	15	2446_2448	c.1975_1977delAAG	c.(1975-1977)del	p.K659del	BAP1_ENST00000296288.5_In_Frame_Del_p.K641del	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	659	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCACCTTGAACTTCTTCCTCTTC	0.552			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							43	124	---	---	---	---					
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:53898813_53898814insC	ENST00000288167.3	+	11	996_997	c.987_988insC	c.(985-990)ctccccfs	p.LP329fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	329					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406													11	558	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR	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													7	411	---	---	---	---					
PDIA5	10954	broad.mit.edu	37	3	122869088	122869089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:122869088_122869089insC	ENST00000316218.7	+	14	1245_1246	c.1150_1151insC	c.(1150-1152)cccfs	p.P384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2.|Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGCCCTGAGGCCCCCCCGCCC	0.604													9	310	---	---	---	---					
TRH	7200	broad.mit.edu	37	3	129695642	129695643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:129695642_129695643insG	ENST00000302649.3	+	3	839_840	c.312_313insG	c.(310-315)gaggggfs	p.EG104fs	TRH_ENST00000507066.1_Frame_Shift_Ins_p.EG100fs	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	104					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						aagaggaagaagggggggCTGT	0.569													8	171	---	---	---	---					
TM4SF4	7104	broad.mit.edu	37	3	149192693	149192694	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:149192693_149192694insG	ENST00000305354.4	+	1	933_934	c.29_30insG	c.(28-30)cggfs	p.R10fs		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	10						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCAGATGCCTGGGGGGGACCC	0.535													7	158	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151095831	151095832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:151095831_151095832insC	ENST00000474524.1	+	29	4281_4282	c.4243_4244insC	c.(4243-4245)cccfs	p.P1415fs	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Frame_Shift_Ins_p.P1275fs	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1415					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGGTTGGTGGCCCCCCTCATC	0.520													11	1030	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													10	411	---	---	---	---					
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccagafs	p.R145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					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)			ACCACCTCTGCGGGGGGGCTGT	0.604													9	122	---	---	---	---					
UGT2B28	54490	broad.mit.edu	37	4	70146673	70146674	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:70146673_70146674insT	ENST00000335568.5	+	1	457_458	c.455_456insT	c.(454-456)gttfs	p.V152fs	UGT2B28_ENST00000511240.1_Frame_Shift_Ins_p.V152fs	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	152					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTTGCAGATGCTTTTTTTCCTT	0.376													7	380	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													12	637	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:144381536_144381537insC	ENST00000262995.4	+	9	2216_2217	c.1789_1790insC	c.(1789-1791)cccfs	p.P597fs	GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs|GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406													11	242	---	---	---	---					
TENM3	55714	broad.mit.edu	37	4	183609358	183609359	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:183609358_183609359insG	ENST00000511685.1	+	12	2198_2199	c.2075_2076insG	c.(2074-2076)aggfs	p.R692fs	TENM3_ENST00000406950.2_Frame_Shift_Ins_p.R692fs|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GGCGTTTGCATGGGGGGGACGT	0.589													15	373	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			8	1117	---	---	---	---					
TRIML2	205860	broad.mit.edu	37	4	189012770	189012771	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:189012770_189012771insG	ENST00000512729.1	-	7	1294_1295	c.920_921insC	c.(919-921)cctfs	p.P307fs	TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	307	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GCCTTTTCAGAGGGGGGAAGAC	0.559													8	591	---	---	---	---					
DNAH5	1767	broad.mit.edu	37	5	13766238	13766239	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:13766238_13766239insG	ENST00000265104.4	-	59	10051_10052	c.9947_9948insC	c.(9946-9948)ccafs	p.P3316fs	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3316	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATGAGGTGAGGGGGGCGGCC	0.530									Kartagener syndrome				7	517	---	---	---	---					
CDH6	1004	broad.mit.edu	37	5	31305299	31305302	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:31305299_31305302delAAGA	ENST00000265071.2	+	7	1283_1286	c.1018_1021delAAGA	c.(1018-1023)aafs	p.KK340fs	CDH6_ENST00000514738.1_Frame_Shift_Del_p.KK285fs	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	340	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTTTGAAAAGAAGAAAGTGTATAC	0.441													25	167	---	---	---	---					
PDZD2	23037	broad.mit.edu	37	5	31799656	31799657	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													7	184	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs	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													11	918	---	---	---	---					
C6	729	broad.mit.edu	37	5	41181559	41181560	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													7	169	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													11	336	---	---	---	---					
SEMA6A	57556	broad.mit.edu	37	5	115782764	115782765	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:115782764_115782765insG	ENST00000343348.6	-	19	3424_3425	c.2637_2638insC	c.(2635-2640)ccaagtfs	p.S880fs	SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S897fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S259fs|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S357fs|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S307fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S880fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	880					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGTGGAACTTTGGGGGGCAGGC	0.604													13	491	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													11	262	---	---	---	---					
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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)	9	935	---	---	---	---					
SLC25A48	153328	broad.mit.edu	37	5	135207263	135207264	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:135207263_135207264insG	ENST00000274513.5	+	5	707_708	c.535_536insG	c.(535-537)gggfs	p.G179fs	SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.G125fs|SLC25A48_ENST00000420621.1_Frame_Shift_Ins_p.G179fs|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	179					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GGGGCTATACCGGGGGGCCAGT	0.604													8	380	---	---	---	---					
SRA1	10011	broad.mit.edu	37	5	139931628	139931629	+	In_Frame_Ins	INS	-	-	GTC	rs148588257	by1000genomes	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:139931628_139931629insGTC	ENST00000336283.6	-	3	1149_1150	c.328_329insGAC	c.(328-330)gat>GACgat	p.110_110D>DD	SRA1_ENST00000520427.1_5'UTR	NM_001035235.3	NP_001030312.2	Q9HD15	SRA1_HUMAN	steroid receptor RNA activator 1	110				V -> RL (in Ref. 1; AAG02116 and 2; AAL55868).	apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTCCATCACAGCCTCAGAC	0.589													31	189	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	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													8	844	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)cccfs	p.P743fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	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													8	856	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)cctfs	p.P526fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515													11	1167	---	---	---	---					
SYCP2L	221711	broad.mit.edu	37	6	10955449	10955449	+	Splice_Site	DEL	A	A	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:10955449delA	ENST00000283141.6	+	24	2351	c.2056_splice	c.e24+1	p.P685_splice		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	685						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GAGAGTTGCCAGGTAACATCA	0.433											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	198	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						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)			TGTATGCCCGTGGGGGGGCCAG	0.599													9	339	---	---	---	---					
NRSN1	140767	broad.mit.edu	37	6	24145844	24145845	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:24145844_24145845insC	ENST00000378491.4	+	4	559_560	c.258_259insC	c.(256-261)gtccccfs	p.VP86fs		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	86					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GCTTTCTTGTGCCCCCCAAAAT	0.485													7	370	---	---	---	---					
GABBR1	2550	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)del	p.L783del	GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAAGATTCCCAGCAGCAGCAGC	0.512													7	507	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000490427.1_Intron|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000483013.1_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													10	334	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30569333	30569334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:30569333_30569334insG	ENST00000376511.2	-	20	3367_3368	c.2815_2816insC	c.(2815-2817)gccfs	p.A939fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	939					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						TCCCTAGGGCAGGGGGGGCCCA	0.569													11	193	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30571392	30571393	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:30571392_30571393insC	ENST00000376511.2	-	16	2175_2176	c.1623_1624insG	c.(1621-1626)ggcaggfs	p.R542fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	542	Gly-rich.|Interaction with WDR82 (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						GAGCCACCTGACCCCCCAGGTT	0.530													8	695	---	---	---	---					
BAG6	7917	broad.mit.edu	37	6	31608920	31608921	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:31608920_31608921insC	ENST00000404765.2	-	20	3036_3037	c.2747_2748insG	c.(2746-2748)gcafs	p.A916fs	BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	886					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			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCATCTGCTGTCCCCCCAAGCA	0.515													9	690	---	---	---	---					
FANCE	2178	broad.mit.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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				15	262	---	---	---	---					
TRERF1	55809	broad.mit.edu	37	6	42231008	42231009	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:42231008_42231009insG	ENST00000541110.1	-	8	2501_2502	c.1933_1934insC	c.(1933-1935)cacfs	p.H645fs	TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000372922.4_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	628	Interacts with CREBBP.|Pro-rich.				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)			AGCAGGCGTGCGGGGGGCAGCC	0.644													10	140	---	---	---	---					
ZNF318	24149	broad.mit.edu	37	6	43323600	43323601	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:43323600_43323601insC	ENST00000361428.2	-	4	1548_1549	c.1471_1472insG	c.(1471-1473)agafs	p.R491fs	ZNF318_ENST00000318149.3_Frame_Shift_Ins_p.R491fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	491					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CAGGAAGTCTGTGTGTCGCTCA	0.475													59	1259	---	---	---	---					
TNFRSF21	27242	broad.mit.edu	37	6	47253988	47253989	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:47253988_47253989insG	ENST00000296861.2	-	2	832_833	c.439_440insC	c.(439-441)tacfs	p.Y147fs		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	147					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACACACCGTATGGGGGGCACAG	0.554													9	893	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:87725846_87725847insC	ENST00000305344.4	+	2	1497_1498	c.794_795insC	c.(793-795)accfs	p.T265fs	HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510													16	926	---	---	---	---					
CTGF	1490	broad.mit.edu	37	6	132270567	132270568	+	Frame_Shift_Ins	INS	-	-	G	rs15960		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:132270567_132270568insG	ENST00000367976.3	-	5	1086_1087	c.886_887insC	c.(886-888)cagfs	p.Q296fs		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	296	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GGTGGTTCTGTGGGGGGTGCAG	0.530													10	613	---	---	---	---					
TFB1M	51106	broad.mit.edu	37	6	155635515	155635515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:155635515delG	ENST00000367166.4	-	1	103	c.48delC	c.(46-48)ccfs	p.P16fs	TFB1M_ENST00000480390.1_5'UTR	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		CTCGAATCGTGGGCAACGGAG	0.547													28	162	---	---	---	---					
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)gggfs	p.G69fs	NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406													7	159	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs	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													8	316	---	---	---	---					
NME8	51314	broad.mit.edu	37	7	37889877	37889878	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:37889877_37889878insA	ENST00000199447.4	+	3	381_382	c.9_10insA	c.(7-12)agaaaafs	p.RK3fs	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Frame_Shift_Ins_p.RK3fs	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	3	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AAATGGCAAGCAAAAAACGAGA	0.317													8	612	---	---	---	---					
GRM3	2913	broad.mit.edu	37	7	86415681	86415682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:86415681_86415682insC	ENST00000361669.2	+	3	1672_1673	c.573_574insC	c.(571-576)gtccccfs	p.VP191fs	GRM3_ENST00000394720.2_Frame_Shift_Ins_p.VP189fs|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Frame_Shift_Ins_p.VP63fs|GRM3_ENST00000439827.1_Frame_Shift_Ins_p.VP191fs|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron	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													8	276	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3379-3384)aaccccfs	p.NP1127fs	CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1127						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.520													9	1850	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139820279	139820280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:139820279_139820280insC	ENST00000397560.2	-	8	1198_1199	c.1101_1102insG	c.(1099-1104)ggacttfs	p.L368fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		368	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	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			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGCAGGAAGTTCCCCCCAAAAG	0.356													7	227	---	---	---	---					
ADCK2	90956	broad.mit.edu	37	7	140394593	140394594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													9	235	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													8	488	---	---	---	---					
AGAP3	116988	broad.mit.edu	37	7	150814456	150814457	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:150814456_150814457insG	ENST00000397238.2	+	4	478		c.e4-1		AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000463381.1_Splice_Site|AGAP3_ENST00000479901.1_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	469	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs			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													7	774	---	---	---	---					
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1678-1683)gcccccfs	p.AP560fs	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	560					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	564	---	---	---	---					
POMK	84197	broad.mit.edu	37	8	42958728	42958729	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:42958728_42958729insC	ENST00000331373.5	+	4	292_293	c.37_38insC	c.(37-39)cccfs	p.P13fs		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		13						integral to membrane	ATP binding|protein kinase activity										GAGAGGCCTCGCCCCCCGAGAG	0.540													13	397	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													15	308	---	---	---	---					
KLHL38	340359	broad.mit.edu	37	8	124664150	124664151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:124664150_124664151insC	ENST00000325995.7	-	1	1039_1040	c.1016_1017insG	c.(1015-1017)gatfs	p.D339fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	339										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGACAGCCATGCCCCCCAGCAC	0.589													8	553	---	---	---	---					
FAM135B	51059	broad.mit.edu	37	8	139151231	139151232	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:139151231_139151232insT	ENST00000395297.1	-	18	4068_4069	c.3898_3899insA	c.(3898-3900)aggfs	p.R1300fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1300								p.T1300R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCACTGACCTGTTTTTTGGCTT	0.446										HNSCC(54;0.14)			7	332	---	---	---	---					
FREM1	158326	broad.mit.edu	37	9	14823286	14823287	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:14823286_14823287insG	ENST00000380881.4	-	14	3026_3027	c.2211_2212insC	c.(2209-2214)cctgcafs	p.A738fs	FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	737					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTCTTGCATGGGGGGCATGT	0.441													9	817	---	---	---	---					
C9orf131	138724	broad.mit.edu	37	9	35045128	35045129	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:35045128_35045129insC	ENST00000312292.5	+	2	2549_2550	c.2502_2503insC	c.(2500-2505)taccccfs	p.YP834fs	C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.YP761fs|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.YP786fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	834										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGCAGATTTATCCCCCCAATCC	0.540													9	2096	---	---	---	---					
TESK1	7016	broad.mit.edu	37	9	35608959	35608960	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:35608959_35608960insC	ENST00000336395.5	+	10	1351_1352	c.1101_1102insC	c.(1099-1104)tcccccfs	p.SP367fs	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	367					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACCAGAATCACCCCCCAACTG	0.609													8	261	---	---	---	---					
CCIN	881	broad.mit.edu	37	9	36170618	36170619	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:36170618_36170619insG	ENST00000335119.2	+	1	1230_1231	c.1119_1120insG	c.(1117-1122)tgggggfs	p.WG373fs		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	373					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TGGTGACCTGTGGGGGGACAGT	0.584													8	452	---	---	---	---					
ZBTB5	9925	broad.mit.edu	37	9	37442161	37442162	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:37442161_37442162insG	ENST00000307750.4	-	2	575_576	c.387_388insC	c.(385-390)ccgtgafs	p.*130fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		ACGCGCTCACTGGGGGGAGACA	0.525													9	735	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													7	259	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													25	318	---	---	---	---					
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)ggafs	p.G132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564													8	1051	---	---	---	---					
AKNA	80709	broad.mit.edu	37	9	117103910	117103911	+	Frame_Shift_Ins	INS	-	-	G	rs150618733		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:117103910_117103911insG	ENST00000307564.4	-	21	4130_4131	c.3969_3970insC	c.(3967-3972)ccgactfs	p.T1324fs	AKNA_ENST00000374079.4_Frame_Shift_Ins_p.T269fs|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Frame_Shift_Ins_p.T784fs|AKNA_ENST00000374075.5_Frame_Shift_Ins_p.T1243fs|AKNA_ENST00000374088.3_Frame_Shift_Ins_p.T1324fs	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TACCACAGTCCGGGGGGTGGGC	0.624													8	190	---	---	---	---					
COL5A1	1289	broad.mit.edu	37	9	137717708	137717709	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:137717708_137717709insG	ENST00000371817.3	+	63	5439_5440	c.5025_5026insG	c.(5023-5028)gcggggfs	p.AG1675fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1675	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G1676W(1)|p.A1675A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTTCACAGCCGGGGGGTCGAC	0.594													7	371	---	---	---	---					
PHYH	5264	broad.mit.edu	37	10	13325834	13325835	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:13325834_13325835insC	ENST00000396920.3	-	7	1036_1037	c.632_633insG	c.(631-633)ggtfs	p.G211fs	PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs|PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	228					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTTTGTTAACTCCCCCCTAGAA	0.465													12	755	---	---	---	---					
KIAA1217	56243	broad.mit.edu	37	10	24832466	24832467	+	Frame_Shift_Ins	INS	-	-	C	rs61734877		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:24832466_24832467insC	ENST00000376451.2	+	14	3576_3577	c.3316_3317insC	c.(3316-3318)cccfs	p.P1106fs	KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.P1423fs|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1423					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						AAAAGAGATGACCCCCCGACAA	0.495													10	320	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													8	203	---	---	---	---					
PARD3	56288	broad.mit.edu	37	10	34666941	34666942	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:34666941_34666942insC	ENST00000374789.3	-	10	1817_1818	c.1492_1493insG	c.(1492-1494)ggcfs	p.G498fs	PARD3_ENST00000545693.1_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.G454fs|PARD3_ENST00000374794.3_Frame_Shift_Ins_p.G454fs|PARD3_ENST00000340077.5_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000544292.1_Frame_Shift_Ins_p.G228fs|PARD3_ENST00000374776.1_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.G498fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.G454fs|PARD3_ENST00000374773.1_Frame_Shift_Ins_p.G498fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	498	PDZ 2.				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)				CTGAATGGCCGCCCCCCGGGGG	0.480													9	219	---	---	---	---					
ZNF248	57209	broad.mit.edu	37	10	38121236	38121237	+	Frame_Shift_Ins	INS	-	-	C	rs34731183		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:38121236_38121237insC	ENST00000395867.3	-	6	1596_1597	c.1046_1047insG	c.(1045-1047)gaafs	p.E349fs	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Frame_Shift_Ins_p.E349fs|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						CATAAGACTTTCCCCCCATGTG	0.401													8	499	---	---	---	---					
PALD1	27143	broad.mit.edu	37	10	72292440	72292441	+	Frame_Shift_Ins	INS	-	-	G	rs145337663	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:72292440_72292441insG	ENST00000263563.6	+	6	965_966	c.697_698insG	c.(697-699)gggfs	p.G233fs		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CGAGGACCTGTGGGGGGAGCCC	0.604													9	992	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89692949	89692949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:89692949delT	ENST00000371953.3	+	5	1790	c.433delT	c.(433-435)ttfs	p.F145fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	145	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F145I(1)|p.A121_F145del(1)|p.F145_L146del(1)|p.F56fs*2(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)		TCGGGGCAAATTTTTAAAGGC	0.388		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)			55	191	---	---	---	---					
ZFYVE27	118813	broad.mit.edu	37	10	99510176	99510177	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:99510176_99510177insG	ENST00000393677.4	+	7	957_958	c.753_754insG	c.(751-756)gtggggfs	p.VG251fs	ZFYVE27_ENST00000359980.3_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000356257.4_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000370610.3_Frame_Shift_Ins_p.VG153fs|ZFYVE27_ENST00000357540.4_Frame_Shift_Ins_p.VG165fs|ZFYVE27_ENST00000453958.2_Frame_Shift_Ins_p.VG251fs|ZFYVE27_ENST00000370613.3_Frame_Shift_Ins_p.VG133fs|ZFYVE27_ENST00000337540.7_Frame_Shift_Ins_p.VG219fs	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	251					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CACCAGATGTTGGGGGGAAGGA	0.599													10	469	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													13	1027	---	---	---	---					
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1771-1776)gaccccfs	p.DP591fs	BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs	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													10	359	---	---	---	---					
USMG5	84833	broad.mit.edu	37	10	105151997	105151997	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:105151997delT	ENST00000369825.1	-	4	613	c.131delA	c.(130-132)ttfs	p.Y44fs	USMG5_ENST00000309579.3_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000369815.1_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000369811.1_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000337003.4_Frame_Shift_Del_p.Y44fs			Q96IX5	USMG5_HUMAN	up-regulated during skeletal muscle growth 5 homolog (mouse)	44						integral to membrane				breast(1)	1		Colorectal(252;0.142)		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)		TAACTTGAAATATAAGACAAT	0.308													23	71	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													14	1131	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)cctfs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604													9	571	---	---	---	---					
EIF4G2	1982	broad.mit.edu	37	11	10820934	10820935	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:10820934_10820935insG	ENST00000526148.1	-	20	2871_2872	c.2361_2362insC	c.(2359-2364)ccgcgafs	p.R788fs	EIF4G2_ENST00000525681.1_Frame_Shift_Ins_p.R788fs|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Frame_Shift_Ins_p.R788fs|EIF4G2_ENST00000396525.2_Frame_Shift_Ins_p.R750fs	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													7	137	---	---	---	---					
E2F8	79733	broad.mit.edu	37	11	19247356	19247357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:19247356_19247357insC	ENST00000527884.1	-	11	2180_2181	c.1948_1949insG	c.(1948-1950)agafs	p.R650fs	E2F8_ENST00000529188.1_5'UTR|E2F8_ENST00000250024.4_Frame_Shift_Ins_p.R650fs|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	650					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AATGGACTCTGCCCCCAGGGAT	0.450													7	1011	---	---	---	---					
APIP	51074	broad.mit.edu	37	11	34904908	34904909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:34904908_34904909insC	ENST00000395787.3	-	6	818_819	c.604_605insG	c.(604-606)aacfs	p.N202fs	APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	202					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CTCCCATGTTTCCCCCCACACA	0.450													13	697	---	---	---	---					
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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	804	---	---	---	---					
OR4D11	219986	broad.mit.edu	37	11	59271497	59271498	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:59271497_59271498insG	ENST00000313253.1	+	1	449_450	c.449_450insG	c.(448-450)aggfs	p.R150fs		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTCTTGGATGGGGGGCTTTG	0.550													7	459	---	---	---	---					
TMEM132A	54972	broad.mit.edu	37	11	60699533	60699534	+	Frame_Shift_Ins	INS	-	-	G	rs61745629	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:60699533_60699534insG	ENST00000005286.4	+	7	1446_1447	c.1293_1294insG	c.(1291-1296)ggggggfs	p.GG431fs	TMEM132A_ENST00000453848.2_Frame_Shift_Ins_p.GG430fs	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	430						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGTGGACGGCGGGGGGGCCTT	0.644													7	194	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						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						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)					12	391	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61183884	61183885	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:61183884_61183885insG	ENST00000340437.4	-	6	866_867	c.786_787insC	c.(784-789)ccgtgtfs	p.C263fs	CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	220	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCACACTGGGGGGCTTAT	0.594													13	708	---	---	---	---					
ALDH3B1	221	broad.mit.edu	37	11	67789023	67789024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:67789023_67789024insG	ENST00000539229.1	+	8	745_746	c.629_630insG	c.(628-630)cggfs	p.R210fs	ALDH3B1_ENST00000342456.6_Frame_Shift_Ins_p.R174fs|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000007633.8_Frame_Shift_Ins_p.R210fs	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	211					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	ACCCTGGAGCTGGGGGGCAAGA	0.634											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	503	---	---	---	---					
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.550													8	688	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													8	342	---	---	---	---					
C11orf88	399949	broad.mit.edu	37	11	111385565	111385566	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:111385565_111385566insC	ENST00000529167.1	+	1	56_57	c.56_57insC	c.(55-57)tccfs	p.S19fs	C11orf88_ENST00000375618.4_Frame_Shift_Ins_p.S19fs|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000332814.6_Frame_Shift_Ins_p.S19fs			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	19										endometrium(1)|large_intestine(3)|lung(2)	6						CAGGAAATGTGCCCCCCGGGAT	0.584											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	91	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs	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													14	935	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													10	1308	---	---	---	---					
OR10G7	390265	broad.mit.edu	37	11	123909635	123909636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:123909635_123909636insG	ENST00000330487.5	-	1	81_82	c.73_74insC	c.(73-75)cttfs	p.L25fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GATTCCAAAGAGGGGGGCGTCC	0.569													7	634	---	---	---	---					
PKNOX2	63876	broad.mit.edu	37	11	125267910	125267911	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:125267910_125267911insG	ENST00000298282.9	+	7	811_812	c.540_541insG	c.(538-543)ctggggfs	p.LG180fs	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Frame_Shift_Ins_p.LG116fs	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	180						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGAATGATCTAGGGGGGCCCTA	0.535													8	279	---	---	---	---					
VWF	7450	broad.mit.edu	37	12	6091108	6091109	+	Frame_Shift_Ins	INS	-	-	G	rs61750632		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:6091108_6091109insG	ENST00000261405.5	-	42	7384_7385	c.7130_7131insC	c.(7129-7131)ccafs	p.P2377fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2377					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	p.P2377P(1)		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)	GCAAACGGTGCGGGGGGCAGGA	0.604													10	341	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	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													14	504	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6927635	6927636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:6927635_6927636insG	ENST00000011653.4	+	8	1463_1464	c.1205_1206insG	c.(1204-1206)cggfs	p.R402fs		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	402					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)				CTGATTGTGCTGGGGGGCGTCG	0.629													9	342	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7045027	7045028	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:7045027_7045028insC	ENST00000356654.4	+	5	834_835	c.597_598insC	c.(595-600)gaccccfs	p.DP199fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.DP199fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	199					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTCCCATGGAGCCCCCCACATC	0.609													7	389	---	---	---	---					
ATN1	1822	broad.mit.edu	37	12	7045699	7045700	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:7045699_7045700insC	ENST00000356654.4	+	5	1506_1507	c.1269_1270insC	c.(1267-1272)caccccfs	p.HP423fs	ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	423					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCTCCAATCAGCCCCCCAAGTA	0.614													8	324	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				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)	TTCTGCTCCTGCCCCCCGGAAT	0.455													10	449	---	---	---	---					
LRP6	4040	broad.mit.edu	37	12	12274317	12274318	+	Frame_Shift_Ins	INS	-	-	G	rs145639537	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:12274317_12274318insG	ENST00000261349.4	-	23	4660_4661	c.4584_4585insC	c.(4582-4587)ccccacfs	p.H1529fs	LRP6_ENST00000543091.1_Frame_Shift_Ins_p.H1484fs|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1529					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAGGGTGTGGTGGGGGGTGCAA	0.465													7	635	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					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)		TGTCATTGGTGCCCCCCGCATA	0.554													23	1194	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													19	239	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49445525	49445526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:49445525_49445526insG	ENST00000301067.7	-	10	1939_1940	c.1940_1941insC	c.(1939-1941)cccfs	p.P647fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATACCTCAGGTGGGGGGGACAT	0.634													11	264	---	---	---	---					
ITGA7	3679	broad.mit.edu	37	12	56094098	56094099	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:56094098_56094099insC	ENST00000257880.7	-	5	968_969	c.749_750insG	c.(748-750)ggafs	p.G250fs	ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000555728.1_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000452168.2_Frame_Shift_Ins_p.G153fs|ITGA7_ENST00000553804.1_Frame_Shift_Ins_p.G250fs|ITGA7_ENST00000394229.2_Intron|ITGA7_ENST00000394230.2_Frame_Shift_Ins_p.G250fs			Q13683	ITA7_HUMAN	integrin, alpha 7	250					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTCCTTCTCTCCCCCCGCCTC	0.649													7	221	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2167-2172)ccccccfs	p.PP723fs	DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													17	309	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56559112	56559113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:56559112_56559113insG	ENST00000394023.3	-	27	3326_3327	c.3221_3222insC	c.(3220-3222)cggfs	p.R1074fs	SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1074fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1043fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CATGGGGTCCAGGGGGGGGAAC	0.574													12	285	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													9	250	---	---	---	---					
BAZ2A	11176	broad.mit.edu	37	12	57009177	57009178	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:57009177_57009178insC	ENST00000179765.5	-	3	549_550	c.350_351insG	c.(349-351)gcafs	p.A117fs	BAZ2A_ENST00000379441.3_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000551812.1_Frame_Shift_Ins_p.A119fs|BAZ2A_ENST00000549884.1_Frame_Shift_Ins_p.A117fs			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	119					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTGGGTATTGTCCCCCCGAGAA	0.584													7	381	---	---	---	---					
ZBTB39	9880	broad.mit.edu	37	12	57396635	57396636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:57396635_57396636insG	ENST00000300101.2	-	2	2151_2152	c.2066_2067insC	c.(2065-2067)cgafs	p.R689fs		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	689			P -> A (in dbSNP:rs3741576).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGTGAAGTCAGGGGGGAGGCT	0.569													7	500	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4459-4464)taggggfs	p.*G1487fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589													11	257	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													64	1046	---	---	---	---					
KIF5A	3798	broad.mit.edu	37	12	57972047	57972048	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:57972047_57972048insG	ENST00000455537.2	+	23	2734_2735	c.2460_2461insG	c.(2458-2463)agggggfs	p.RG820fs	KIF5A_ENST00000286452.5_Frame_Shift_Ins_p.RG731fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	820					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CCGAAGACAGTGGGGGGATTCA	0.505													7	961	---	---	---	---					
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)ccgggcfs	p.PG444fs	BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000331471.4_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594													8	315	---	---	---	---					
NEDD1	121441	broad.mit.edu	37	12	97311397	97311404	+	Splice_Site	DEL	AGCAAAAG	AGCAAAAG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:97311397_97311404delAGCAAAAG	ENST00000266742.4	+	5	570_576	c.231_splice	c.e5-1	p.77_splice	NEDD1_ENST00000557644.1_Splice_Site_p.84_splice|NEDD1_ENST00000429527.2_Splice_Site_p.77_splice|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000457368.2_5'UTR|NEDD1_ENST00000411739.2_5'UTR	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	77					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ttttttaaataGCAAAAGCAGACATGTG	0.303													13	101	---	---	---	---					
MYL2	4633	broad.mit.edu	37	12	111348950	111348951	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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	832	---	---	---	---					
HECTD4	283450	broad.mit.edu	37	12	112600859	112600860	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:112600859_112600860insG	ENST00000550722.1	-	75	13063_13064	c.12668_12669insC	c.(12667-12669)cgafs	p.R4223fs	HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.R3947fs|HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.R4197fs	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CTGTGCCATCTGGGGGGGCGAT	0.629													23	312	---	---	---	---					
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:117977604_117977605insG	ENST00000425217.1	-	10	1573_1574	c.1519_1520insC	c.(1519-1521)cccfs	p.P507fs	KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634													7	176	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													20	334	---	---	---	---					
RP5-944M2.3	0	broad.mit.edu	37	12	126944158	126944161	+	RNA	DEL	AAGG	AAGG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:126944158_126944161delAAGG	ENST00000397346.3	+	0	1031																											ggaaggaagaaaggaaggaaggaa	0.382													3	3	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cctgttfs	p.V698fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	698					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)					13	285	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													9	230	---	---	---	---					
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs137853287		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cctgctfs	p.A769fs	ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD).|M -> R (in WD).|M -> V (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACAAAGAGCATGGGGGGCGTGT	0.520									Wilson disease				7	670	---	---	---	---					
MBNL2	10150	broad.mit.edu	37	13	97928603	97928604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:97928603_97928604insC	ENST00000345429.6	+	2	895_896	c.114_115insC	c.(112-117)caccccfs	p.HP38fs	MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_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													9	456	---	---	---	---					
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													13	378	---	---	---	---					
SUPT16H	11198	broad.mit.edu	37	14	21820849	21820850	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													9	572	---	---	---	---					
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)caafs	p.Q25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.480													11	363	---	---	---	---					
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)del	p.S187del	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567													7	271	---	---	---	---					
CTSG	1511	broad.mit.edu	37	14	25042847	25042848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:25042847_25042848insG	ENST00000216336.2	-	5	799_800	c.763_764insC	c.(763-765)gtgfs	p.V255fs		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	255					immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCAGTCACAGGGGGGTCTCC	0.490													7	1013	---	---	---	---					
PRKCH	5583	broad.mit.edu	37	14	61952228	61952229	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:61952228_61952229insT	ENST00000332981.5	+	10	1672_1673	c.1287_1288insT	c.(1285-1290)ctttttfs	p.LF429fs	PRKCH_ENST00000555082.1_Frame_Shift_Ins_p.LF268fs	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	429	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AGGATCGTCTGTTTTTTGTGAT	0.460													7	1925	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75248518	75248519	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:75248518_75248519insC	ENST00000325680.7	+	4	1896_1897	c.1772_1773insC	c.(1771-1773)cccfs	p.P591fs	YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCACCAGTTCTCCCCCCACCTT	0.599													10	564	---	---	---	---					
IGHG3	3502	broad.mit.edu	37	14	106236280	106236281	+	RNA	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:106236280_106236281insG	ENST00000390551.2	-	0	522_523																											CCTTGGGTTTTGGGGGGAAGAG	0.594													10	322	---	---	---	---					
IGHV4-39	28394	broad.mit.edu	37	14	106877817	106877819	+	RNA	DEL	ACT	ACT	-	rs113800876		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:106877817_106877819delACT	ENST00000390619.2	-	0	224_226																											CCCAGTAGTAACTACTACTGCTG	0.596													14	71	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28478873	28478874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:28478873_28478874insG	ENST00000261609.7	-	28	4395_4396	c.4287_4288insC	c.(4285-4290)ccagcafs	p.A1430fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1430					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P1429P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGATGCTCGGGGGGAAACA	0.450													8	416	---	---	---	---					
DUOX1	53905	broad.mit.edu	37	15	45457005	45457006	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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|DUOX1_ENST00000561166.1_Frame_Shift_Ins_p.A1167fs|CTD-2651B20.1_ENST00000558039.1_lincRNA	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													9	811	---	---	---	---					
RFX7	64864	broad.mit.edu	37	15	56386880	56386881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:56386880_56386881insG	ENST00000423270.1	-	9	3044_3045	c.3045_3046insC	c.(3043-3048)ccgcccfs	p.P1016fs	RFX7_ENST00000422057.1_Frame_Shift_Ins_p.P919fs|RFX7_ENST00000317318.6_Frame_Shift_Ins_p.P1016fs|RFX7_ENST00000559447.2_Frame_Shift_Ins_p.P919fs	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	919					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCAACAGGGCTGGGGGGGACAC	0.500													7	178	---	---	---	---					
ZNF609	23060	broad.mit.edu	37	15	64973566	64973567	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:64973566_64973567insC	ENST00000326648.3	+	8	4349_4350	c.4221_4222insC	c.(4219-4224)ccccccfs	p.PP1407fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1407						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CACTCTACCCACCCCCCAGGAG	0.470											OREG0023182	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	668	---	---	---	---					
ZSCAN2	54993	broad.mit.edu	37	15	85164518	85164519	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:85164518_85164519insA	ENST00000448803.2	+	3	1384_1385	c.1092_1093insA	c.(1090-1095)tgaagafs	p.R365fs	ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000546148.1_Frame_Shift_Ins_p.R365fs|ZSCAN2_ENST00000327179.6_Frame_Shift_Ins_p.R364fs|ZSCAN2_ENST00000358472.3_Frame_Shift_Ins_p.R215fs	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	365					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCTACGAATGTAAAGAATGCGG	0.495													45	392	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													8	411	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	21063027	21063028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:21063027_21063028insG	ENST00000261383.3	-	29	4200_4201	c.4201_4202insC	c.(4201-4203)gctfs	p.A1401fs	DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.A1401fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1401	AAA 1 (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)		GATCACCAGCCGGGGGGAGTTT	0.569													10	449	---	---	---	---					
SEZ6L2	26470	broad.mit.edu	37	16	29891248	29891249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:29891248_29891249insG	ENST00000308713.5	-	9	2036_2037	c.1509_1510insC	c.(1507-1512)ccatgcfs	p.C504fs	SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs|SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs	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													9	648	---	---	---	---					
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:30100077_30100078insC	ENST00000553607.1	-	4	1397_1398	c.704_705insG	c.(703-705)gatfs	p.D235fs	TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_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													10	218	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													9	984	---	---	---	---					
ITGAD	3681	broad.mit.edu	37	16	31422532	31422533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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	1072	---	---	---	---					
RP11-812E19.7	0	broad.mit.edu	37	16	33661285	33661286	+	RNA	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:33661285_33661286insC	ENST00000563019.1	-	0	45_46																											GGTTCTGTGCGCCCCCCGCAGC	0.525													7	68	---	---	---	---					
NKD1	85407	broad.mit.edu	37	16	50667134	50667135	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:50667134_50667135insC	ENST00000268459.3	+	10	1079_1080	c.855_856insC	c.(853-858)ctccccfs	p.LP285fs		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	285					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGTCAGAACTGCCCCCCCGCAC	0.599													7	106	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													19	1036	---	---	---	---					
TLDC1	57707	broad.mit.edu	37	16	84514302	84514303	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													7	113	---	---	---	---					
KLHDC4	54758	broad.mit.edu	37	16	87795566	87795567	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:87795566_87795567insG	ENST00000270583.5	-	2	237_238	c.179_180insC	c.(178-180)cccfs	p.P60fs	KLHDC4_ENST00000353170.5_Intron|KLHDC4_ENST00000347925.5_Frame_Shift_Ins_p.P60fs	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	60										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TTGGTGAGGGTGGGGGGCACGG	0.465													7	670	---	---	---	---					
ZMYND15	84225	broad.mit.edu	37	17	4647723	4647724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:4647723_4647724insC	ENST00000433935.1	+	10	1701_1702	c.1644_1645insC	c.(1642-1647)ctccccfs	p.LP548fs	ZMYND15_ENST00000592813.1_Frame_Shift_Ins_p.LP509fs|ZMYND15_ENST00000573751.2_Frame_Shift_Ins_p.LP548fs|ZMYND15_ENST00000269289.6_Frame_Shift_Ins_p.LP509fs	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	509							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGATGGCCTGCCCCCCGAAAG	0.594													9	271	---	---	---	---					
CAMTA2	23125	broad.mit.edu	37	17	4884523	4884524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:4884523_4884524insC	ENST00000361571.5	-	7	1104_1105	c.693_694insG	c.(691-696)ggttggfs	p.W232fs	CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.W235fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.W238fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.W233fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.W256fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	233					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACTTACCAAGCCCCCCACTGC	0.550											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	714	---	---	---	---					
WSCD1	23302	broad.mit.edu	37	17	6012978	6012979	+	Frame_Shift_Ins	INS	-	-	C	rs41314099	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:6012978_6012979insC	ENST00000574946.1	+	6	1291_1292	c.901_902insC	c.(901-903)cccfs	p.P301fs	WSCD1_ENST00000317744.5_Frame_Shift_Ins_p.P301fs|WSCD1_ENST00000574232.1_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													12	1120	---	---	---	---					
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)cccfs	p.P298fs	AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	298	Lipoxygenase.		A -> T.		anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATACCTGGCTGCCCCCCTCGTT	0.554													17	858	---	---	---	---					
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(982-987)ggccccfs	p.GP328fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	328					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574													7	164	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7798764	7798765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:7798764_7798765insC	ENST00000380358.4	+	10	1789_1790	c.1788_1789insC	c.(1786-1791)ccccccfs	p.PP596fs	CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	537					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTCC	0.574													26	483	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													32	601	---	---	---	---					
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:29758897_29758898insG	ENST00000325874.8	+	2	455_456	c.226_227insG	c.(226-228)gggfs	p.G76fs		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	76	EF-hand.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGACTTTTGCCGGGGGGTGTTC	0.579													8	277	---	---	---	---					
ASIC2	40	broad.mit.edu	37	17	31439004	31439005	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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	276	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35487100	35487101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:35487100_35487101insC	ENST00000353139.5	-	46	6204_6205	c.5723_5724insG	c.(5722-5724)gatfs	p.D1908fs	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.D1871fs|ACACA_ENST00000360679.3_Frame_Shift_Ins_p.D1813fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.D1793fs	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													7	652	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													16	1227	---	---	---	---					
MKS1	54903	broad.mit.edu	37	17	56290389	56290390	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:56290389_56290390insG	ENST00000393119.2	-	8	885_886	c.811_812insC	c.(811-813)cgcfs	p.R271fs	MKS1_ENST00000537529.2_Frame_Shift_Ins_p.R261fs|MKS1_ENST00000546108.1_Frame_Shift_Ins_p.R68fs|MKS1_ENST00000313863.6_Frame_Shift_Ins_p.R271fs|MKS1_ENST00000337050.7_Frame_Shift_Ins_p.R271fs	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	271					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGGCTGTGCGTGGGGGGAAACA	0.525													7	355	---	---	---	---					
RNF43	54894	broad.mit.edu	37	17	56435160	56435161	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:56435160_56435161insC	ENST00000584437.1	-	8	3931_3932	c.1976_1977insG	c.(1975-1977)gccfs	p.A659fs	RNF43_ENST00000583753.1_Frame_Shift_Ins_p.A618fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.A618fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCCT	0.599													9	206	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					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)					ATCTCTACTTTGGGGGGAAATT	0.376													24	922	---	---	---	---					
GRB2	2885	broad.mit.edu	37	17	73389642	73389643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:73389642_73389643insC	ENST00000392562.1	-	2	849_850	c.67_68insG	c.(67-69)catfs	p.H23fs	GRB2_ENST00000392564.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000578961.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.H23fs			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	23	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CTTGAGGATGTCCCCCCTTTTG	0.530													11	840	---	---	---	---					
ZNF271P	10778	broad.mit.edu	37	18	32887167	32887171	+	RNA	DEL	TATGC	TATGC	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr18:32887167_32887171delTATGC	ENST00000399070.3	+	0	1561_1565					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						AGAGAAACCATATGCATGTAATCAG	0.385													15	174	---	---	---	---					
C3	718	broad.mit.edu	37	19	6697480	6697481	+	Frame_Shift_Ins	INS	-	-	G	rs137956083		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:6697480_6697481insG	ENST00000245907.6	-	21	2762_2763	c.2670_2671insC	c.(2668-2673)ccagtcfs	p.V891fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	891					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AACGAGGACTTGGGGGGGATGG	0.574													10	351	---	---	---	---					
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													12	231	---	---	---	---					
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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)	14	1019	---	---	---	---					
TNPO2	30000	broad.mit.edu	37	19	12829916	12829917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:12829916_12829917insG	ENST00000425528.1	-	5	608_609	c.251_252insC	c.(250-252)cgtfs	p.R84fs	TNPO2_ENST00000588216.1_Frame_Shift_Ins_p.R84fs|TNPO2_ENST00000592287.1_Frame_Shift_Ins_p.R84fs|TNPO2_ENST00000450764.2_Frame_Shift_Ins_p.R84fs|TNPO2_ENST00000356861.5_Frame_Shift_Ins_p.R84fs|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000441499.1_Frame_Shift_Ins_p.R84fs			O14787	TNPO2_HUMAN	transportin 2	84	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTCTGCCACAGGGGGTGGGAA	0.579													7	558	---	---	---	---					
CIB3	117286	broad.mit.edu	37	19	16275654	16275655	+	Frame_Shift_Ins	INS	-	-	T	rs6512087	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:16275654_16275655insT	ENST00000269878.4	-	5	465_466	c.416_417insA	c.(415-417)gctfs	p.A139fs	CIB3_ENST00000379859.3_Frame_Shift_Ins_p.A90fs|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	139			G -> E (in dbSNP:rs6512087).				calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CGGCACTCAGCCCCCCCCGCGT	0.569													16	297	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													8	501	---	---	---	---					
POU2F2	5452	broad.mit.edu	37	19	42621520	42621521	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:42621520_42621521insG	ENST00000560398.1	-	5	257_258	c.250_251insC	c.(250-252)gatfs	p.D84fs	POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	62					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				AGCCTTGATCTGGGGGGGAGAG	0.634													16	282	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													16	1067	---	---	---	---					
DHX34	9704	broad.mit.edu	37	19	47878930	47878931	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:47878930_47878931insC	ENST00000328771.4	+	10	2621_2622	c.2272_2273insC	c.(2272-2274)cccfs	p.P758fs		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	758						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGCTGGCCCAGCCCCCCCAGGG	0.718													3	6	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935586	47935587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:47935586_47935587insG	ENST00000236877.6	-	9	2621_2622	c.2226_2227insC	c.(2224-2229)ccccgafs	p.R743fs	SLC8A2_ENST00000539381.1_Frame_Shift_Ins_p.R206fs|SLC8A2_ENST00000542837.1_Frame_Shift_Ins_p.R499fs	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	743					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CAGTACTCGGTGGGGGGCACAC	0.649													8	315	---	---	---	---					
SULT2A1	6822	broad.mit.edu	37	19	48385414	48385415	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:48385414_48385415insA	ENST00000222002.3	-	3	537_538	c.398_399insT	c.(397-399)ttgfs	p.L133fs		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	133					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TGTTTTTCCAGAAAAAATAACC	0.347													31	146	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_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													11	255	---	---	---	---					
SLC17A7	57030	broad.mit.edu	37	19	49937127	49937128	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:49937127_49937128insG	ENST00000221485.3	-	7	896		c.e7-2		SLC17A7_ENST00000600601.1_Splice_Site|SLC17A7_ENST00000543531.1_Splice_Site	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CGAAGCTGCCTGGGGGGGTCAG	0.678													7	134	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													17	442	---	---	---	---					
ZNF649	65251	broad.mit.edu	37	19	52394013	52394014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:52394013_52394014insC	ENST00000354957.3	-	5	1659_1660	c.1375_1376insG	c.(1375-1377)ttcfs	p.F459fs	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTCACTGAATCCCCCCGTTTC	0.450													11	1142	---	---	---	---					
ZNF347	84671	broad.mit.edu	37	19	53645671	53645671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:53645671delT	ENST00000452676.2	-	5	839	c.413delA	c.(412-414)atfs	p.N138fs	ZNF347_ENST00000334197.7_Frame_Shift_Del_p.N137fs|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.N138fs	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCCATGTGTATTTTTCTGGAC	0.413													116	946	---	---	---	---					
CNOT3	4849	broad.mit.edu	37	19	54656634	54656635	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:54656634_54656635insC	ENST00000406403.1	+	15	3538_3539	c.1935_1936insC	c.(1933-1938)acccccfs	p.TP645fs	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.TP645fs|CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.TP464fs			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	645	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTGTCCGACGCCCCCCTACCA	0.579													8	379	---	---	---	---					
PCED1A	64773	broad.mit.edu	37	20	2816203	2816204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:2816203_2816204insC	ENST00000360652.2	-	8	1771_1772	c.1269_1270insG	c.(1267-1272)ggcctgfs	p.L424fs	PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.L373fs	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		TGCCTGCAGGGCCCCCCCATTC	0.624													7	142	---	---	---	---					
ATRN	8455	broad.mit.edu	37	20	3564725	3564726	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:3564725_3564726insC	ENST00000262919.5	+	17	3013_3014	c.2945_2946insC	c.(2944-2946)tccfs	p.S982fs	ATRN_ENST00000446916.2_Frame_Shift_Ins_p.S982fs	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	982	PSI 3.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATGAGCACCTGCCCCCGTAAGT	0.520													7	1006	---	---	---	---					
SMOX	54498	broad.mit.edu	37	20	4163027	4163028	+	Frame_Shift_Ins	INS	-	-	G	rs145014650	by1000genomes	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													10	89	---	---	---	---					
ISM1	140862	broad.mit.edu	37	20	13260474	13260475	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:13260474_13260475insC	ENST00000262487.3	+	3	578_579	c.572_573insC	c.(571-573)accfs	p.T191fs	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	191						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						AACTTCCTCAACCCCCCCAGGG	0.554													8	154	---	---	---	---					
CST4	1472	broad.mit.edu	37	20	23667825	23667826	+	Frame_Shift_Ins	INS	-	-	C	rs140501583		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													24	431	---	---	---	---					
TM9SF4	9777	broad.mit.edu	37	20	30737490	30737491	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:30737490_30737491insC	ENST00000217315.5	+	10	1297_1298	c.957_958insC	c.(955-960)agccccfs	p.SP319fs	TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	336						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACGTCTTCAGGCCCCCCCAGTA	0.604													9	132	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1353)gggfs	p.G451fs	DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559													9	205	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33337505	33337506	+	Frame_Shift_Ins	INS	-	-	G	rs61754975		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:33337505_33337506insG	ENST00000374796.2	-	10	5062_5063	c.2492_2493insC	c.(2491-2493)ccafs	p.P831fs	NCOA6_ENST00000359003.2_Frame_Shift_Ins_p.P831fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	831	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTGCACATGAGGGGGGACCAT	0.500													8	596	---	---	---	---					
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)cccfs	p.P379fs	RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGTCAGTACCACCCCCCCACAT	0.446													19	269	---	---	---	---					
LPIN3	64900	broad.mit.edu	37	20	39977798	39977799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:39977798_39977799insC	ENST00000373257.3	+	5	715_716	c.624_625insC	c.(622-627)tgccccfs	p.CP208fs		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	208					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)				ATGGCGAGTGGCCCCCCCAGGC	0.540													10	209	---	---	---	---					
RBPJL	11317	broad.mit.edu	37	20	43940237	43940238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:43940237_43940238insC	ENST00000343694.3	+	4	338_339	c.266_267insC	c.(265-267)tccfs	p.S89fs	RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	89					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				AGGTTCTTCTGCCCCCCGCCCT	0.604											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	265	---	---	---	---					
SLC13A3	64849	broad.mit.edu	37	20	45194969	45194970	+	Frame_Shift_Ins	INS	-	-	G	rs149123701	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:45194969_45194970insG	ENST00000279027.4	-	11	1410_1411	c.1392_1393insC	c.(1390-1395)ccccctfs	p.PP464fs	SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	464						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.P464P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	ACAGCCAGGGCGGGGGGCACAT	0.604													11	630	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989890	47989891	+	Frame_Shift_Ins	INS	-	-	G	rs151175979	by1000genomes	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													12	225	---	---	---	---					
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:50400982_50400983insC	ENST00000217086.4	-	4	3094_3095	c.2983_2984insG	c.(2983-2985)tccfs	p.S995fs	SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGGTAGGAACCCCCCCACTC	0.559													10	166	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													11	158	---	---	---	---					
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-537)cccfs	p.P179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465													21	275	---	---	---	---					
ERG	2078	broad.mit.edu	37	21	39755553	39755554	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:39755553_39755554insG	ENST00000442448.1	-	11	1431_1432	c.1160_1161insC	c.(1159-1161)cgafs	p.R387fs	ERG_ENST00000398910.1_Frame_Shift_Ins_p.R388fs|ERG_ENST00000398905.1_Frame_Shift_Ins_p.R380fs|ERG_ENST00000398911.1_Frame_Shift_Ins_p.R387fs|ERG_ENST00000398897.1_Frame_Shift_Ins_p.R288fs|ERG_ENST00000288319.7_Frame_Shift_Ins_p.R404fs|ERG_ENST00000398907.1_Frame_Shift_Ins_p.R381fs|ERG_ENST00000453032.2_Frame_Shift_Ins_p.R312fs|ERG_ENST00000398919.2_Frame_Shift_Ins_p.R411fs|ERG_ENST00000417133.2_Frame_Shift_Ins_p.R411fs	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	411					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GAGATGACTCCGGGGGGTGGGG	0.589			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								7	152	---	---	---	---					
DSCAM	1826	broad.mit.edu	37	21	41514614	41514615	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:41514614_41514615insG	ENST00000400454.1	-	18	3753_3754	c.3276_3277insC	c.(3274-3279)ccaaaafs	p.PK1092fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1092	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E1093K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACATTTTCGGGGGGGTAAC	0.406													19	594	---	---	---	---					
TMPRSS3	64699	broad.mit.edu	37	21	43804123	43804130	+	Splice_Site	DEL	CTAAAGCG	CTAAAGCG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:43804123_43804130delCTAAAGCG	ENST00000291532.3	-	7	1528		c.e7-1		TMPRSS3_ENST00000433957.2_Splice_Site|TMPRSS3_ENST00000474596.1_Splice_Site|TMPRSS3_ENST00000398405.1_Splice_Site|TMPRSS3_ENST00000380399.1_Splice_Site|TMPRSS3_ENST00000398397.3_Splice_Site	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3						cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ACATCCCTCCCTAAAGCGGAGAAAAAGT	0.471													8	25	---	---	---	---					
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-678)attfs	p.I226fs	PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TGTAAGTACAGTTTTTTGGATA	0.520													8	949	---	---	---	---					
MCM3AP	8888	broad.mit.edu	37	21	47663396	47663397	+	Frame_Shift_Ins	INS	-	-	G	rs34589822	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:47663396_47663397insG	ENST00000397708.1	-	25	5532_5533	c.5278_5279insC	c.(5278-5280)gctfs	p.A1760fs	MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1760					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)					AACAGGAAGCCGGGGGGGCGTC	0.525													10	483	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													2	4	---	---	---	---					
CECR1	51816	broad.mit.edu	37	22	17662759	17662760	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:17662759_17662760insC	ENST00000399839.1	-	9	1662_1663	c.1392_1393insG	c.(1390-1395)ggtgaafs	p.E465fs	CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs|CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	465					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCAGCCTTCATCCCCCCAATGC	0.564													11	384	---	---	---	---					
GNAZ	2781	broad.mit.edu	37	22	23438487	23438488	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:23438487_23438488insG	ENST00000248996.4	+	2	1271_1272	c.605_606insG	c.(604-606)gggfs	p.G202fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	202						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGGTGGACGTGGGGGGGCAGA	0.574													7	107	---	---	---	---					
ZDHHC8P1	150244	broad.mit.edu	37	22	23742494	23742495	+	RNA	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:23742494_23742495insG	ENST00000255890.4	-	0	714_715																											GGGCAGTGCATGGGGGGGCAAA	0.663													3	3	---	---	---	---					
ZNF70	7621	broad.mit.edu	37	22	24087085	24087086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:24087085_24087086insG	ENST00000341976.3	-	2	702_703	c.242_243insC	c.(241-243)cggfs	p.R81fs		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	81						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						GTCTGGTTCCTGGGGGGATACT	0.495													11	1174	---	---	---	---					
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		THOC5_ENST00000397873.2_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						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						ACGTCTTATCTGGGGGGCAAGA	0.535													16	900	---	---	---	---					
DDX17	10521	broad.mit.edu	37	22	38895454	38895455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:38895454_38895455insC	ENST00000396821.3	-	3	587_588	c.488_489insG	c.(487-489)ggafs	p.G163fs	DDX17_ENST00000381633.3_Frame_Shift_Ins_p.G84fs|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	84	Helicase ATP-binding.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.G163fs*20(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GACAAACATCTCCCCCCCTCAC	0.381													16	332	---	---	---	---					
TNRC6B	23112	broad.mit.edu	37	22	40681766	40681767	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:40681766_40681767insC	ENST00000454349.2	+	12	3911_3912	c.3700_3701insC	c.(3700-3702)cccfs	p.P1234fs	TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1234					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCAGTTTATTTCCCCCCAGGTA	0.450													8	567	---	---	---	---					
CERK	64781	broad.mit.edu	37	22	47086001	47086002	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:47086001_47086002insC	ENST00000216264.8	-	12	1540_1541	c.1428_1429insG	c.(1426-1431)ggagaafs	p.E477fs	CERK_ENST00000541677.1_Frame_Shift_Ins_p.E279fs|CERK_ENST00000471929.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	477					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	p.K477fs*>61(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AAGCGCTTCTTCCCCCCCTCCT	0.559													7	172	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000355704.3_Intron	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													142	2634	---	---	---	---					
DHRSX	207063	broad.mit.edu	37	X	2343335	2343336	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:2343335_2343336insG	ENST00000334651.5	-	2	171_172	c.119_120insC	c.(118-120)ccgfs	p.P40fs		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	40							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGTCAGGTCGTGGGGGGAAAAC	0.455													10	492	---	---	---	---					
AMELX	265	broad.mit.edu	37	X	11316741	11316742	+	Frame_Shift_Ins	INS	-	-	C	rs2106416	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:11316741_11316742insC	ENST00000380712.3	+	6	328_329	c.260_261insC	c.(259-261)cccfs	p.P87fs	ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380714.3_Frame_Shift_Ins_p.P73fs|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Frame_Shift_Ins_p.P57fs|ARHGAP6_ENST00000337414.4_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	73					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						TCCCAACAGCACCCCCCGACTC	0.594													8	390	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	40982956	40982957	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:40982956_40982957insC	ENST00000324545.7	+	2	708_709	c.75_76insC	c.(73-78)caccccfs	p.HP25fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.HP25fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	25				Q -> L (in Ref. 1; CAA66942).	BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GACAGTCTCAGCCCCCCCTCCA	0.540													10	290	---	---	---	---					
SSX9	280660	broad.mit.edu	37	X	48159107	48159108	+	Frame_Shift_Ins	INS	-	-	G	rs41305745	by1000genomes	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:48159107_48159108insG	ENST00000376909.1	-	6	487_488	c.425_426insC	c.(424-426)cggfs	p.R142fs	SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs																breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TTGGTTTTCCCGGGGGGCACAG	0.490													21	924	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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	1737	---	---	---	---					
SSX3	10214	broad.mit.edu	37	X	48209462	48209463	+	Frame_Shift_Ins	INS	-	-	G	rs6651589	byFrequency	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													16	809	---	---	---	---					
ZC3H12B	340554	broad.mit.edu	37	X	64722003	64722004	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:64722003_64722004insC	ENST00000338957.4	+	5	1492_1493	c.1425_1426insC	c.(1423-1428)ccccccfs	p.PP475fs	ZC3H12B_ENST00000423889.3_Frame_Shift_Ins_p.PP464fs	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	464							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACAATCCCACCCCCCAAAAG	0.594													8	394	---	---	---	---					
HEPH	9843	broad.mit.edu	37	X	65486286	65486287	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:65486286_65486287insC	ENST00000519389.1	+	21	3590_3591	c.3411_3412insC	c.(3409-3414)gtccccfs	p.VP1137fs	HEPH_ENST00000343002.2_Frame_Shift_Ins_p.VP1083fs|HEPH_ENST00000374727.3_Frame_Shift_Ins_p.VP1086fs|HEPH_ENST00000419594.1_Frame_Shift_Ins_p.VP894fs|HEPH_ENST00000336279.5_Frame_Shift_Ins_p.VP816fs|HEPH_ENST00000441993.2_Splice_Site_p.VP1085_splice			Q9BQS7	HEPH_HUMAN	hephaestin	1083					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTTCAGCAGTGCCCCCCAGAGA	0.436													7	290	---	---	---	---					
STARD8	9754	broad.mit.edu	37	X	67943519	67943520	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:67943519_67943520insC	ENST00000252336.6	+	12	2983_2984	c.2611_2612insC	c.(2611-2613)cccfs	p.P871fs	STARD8_ENST00000374599.3_Frame_Shift_Ins_p.P951fs|STARD8_ENST00000374597.3_Frame_Shift_Ins_p.P871fs	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	871	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.A874fs*16(2)|p.A954fs*16(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AGAGGTGGCAGCCCCCCCAGCT	0.678													2	4	---	---	---	---					
RGAG4	340526	broad.mit.edu	37	X	71349802	71349803	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	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													8	189	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73047124	73047125	+	RNA	DEL	AC	AC	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:73047124_73047125delAC	ENST00000604411.1	+	0	35085_35086				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GCCACACATGACACACACACAC	0.470													7	312	---	---	---	---					
KIAA2022	340533	broad.mit.edu	37	X	73963268	73963269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:73963268_73963269insC	ENST00000373468.1	-	3	1774_1775	c.1123_1124insG	c.(1123-1125)ggafs	p.G375fs	KIAA2022_ENST00000055682.5_Frame_Shift_Ins_p.G375fs			Q5QGS0	K2022_HUMAN	KIAA2022	375					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTATCTTCCTCCCCCCAGATG	0.475													9	669	---	---	---	---					
RAB40AL	282808	broad.mit.edu	37	X	102192383	102192384	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:102192383_102192384insG	ENST00000218249.5	+	1	184_185	c.137_138insG	c.(136-138)cggfs	p.R46fs		NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	46					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						TACAGTCACCTGGGGGGAATCG	0.599													9	420	---	---	---	---					
PLAC1	10761	broad.mit.edu	37	X	133700357	133700358	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:133700357_133700358insG	ENST00000359237.4	-	3	640_641	c.355_356insC	c.(355-357)aaafs	p.K119fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	119					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TGGGGACTTTTGGGGGGCAGCA	0.530													8	477	---	---	---	---					
PLAC1	10761	broad.mit.edu	37	X	133700524	133700525	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:133700524_133700525insG	ENST00000359237.4	-	3	473_474	c.188_189insC	c.(187-189)caafs	p.Q63fs	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	63					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GAACATGGTTTGGGGGGCAACC	0.510													9	665	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)ggtfs	p.G308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535													51	928	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27057936	27057937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:27057936_27057937insC	ENST00000324856.7	+	3	2015_2016	c.1644_1645insC	c.(1642-1647)caccccfs	p.HP548fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.HP548fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.HP165fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	548					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.Y551fs*72(1)	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)		CCCAGAGCCAGCCCCCCTACTC	0.649			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	394	---	---	---	---					
HIPK1	204851	broad.mit.edu	37	1	114514537	114514538	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:114514537_114514538insG	ENST00000369558.1	+	15	3337_3338	c.3105_3106insG	c.(3103-3108)cgggggfs	p.RG1035fs	HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.RG641fs|HIPK1_ENST00000369559.4_Frame_Shift_Ins_p.RG1035fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.RG1035fs|HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.RG641fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.RG661fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.RG990fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.RG990fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.RG1001fs			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1035	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		GAGCTCAACGCGGGGGGACCAG	0.525													8	236	---	---	---	---					
SWT1	54823	broad.mit.edu	37	1	185171842	185171844	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:185171842_185171844delAAG	ENST00000367500.4	+	11	1745_1747	c.1580_1582delAAG	c.(1579-1584)aaa>a	p.KE527del	SWT1_ENST00000367501.3_In_Frame_Del_p.KE527del	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	527										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TCACTCAGTAAAGAAGAATTGAG	0.365													7	66	---	---	---	---					
LOC400800	400800	broad.mit.edu	37	1	199130136	199130137	+	RNA	INS	-	-	G	rs142603788	by1000genomes	TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:199130136_199130137insG	ENST00000452199.1	+	0	140																											gaaggaaggaagaaggaaggaa	0.475													3	5	---	---	---	---					
C1orf106	55765	broad.mit.edu	37	1	200880644	200880647	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr1:200880644_200880647delCACT	ENST00000367342.4	+	9	1478_1481	c.1278_1281delCACT	c.(1276-1281)ccfs	p.PT426fs	C1orf106_ENST00000413687.2_Frame_Shift_Del_p.PT341fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	426										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCCGCCGCCCCACTCACTACACGG	0.667													56	234	---	---	---	---					
VHL	7428	broad.mit.edu	37	3	10191522	10191525	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:10191522_10191525delCTGA	ENST00000256474.2	+	3	1355_1358	c.515_518delCTGA	c.(514-519)cgfs	p.PE172fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.PE131fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	172					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.P172fs*30(4)|p.P172fs*39(2)|p.N174fs*41(1)|p.E173_R176del(1)|p.V170fs*29(1)|p.E173*(1)|p.P172_E173del(1)|p.E173fs*>42(1)|p.E173fs*26(1)|p.K171fs*43(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)		CTAGTCAAGCCTGAGAATTACAGG	0.525		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				20	78	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47125805	47125805	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:47125805delG	ENST00000409792.3	-	12	5507	c.5465delC	c.(5464-5466)cafs	p.P1822fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTGAATAATTGGAAGTACTTT	0.383			"""N, F, S, Mis"""		clear cell renal carcinoma								18	87	---	---	---	---					
MST1	4485	broad.mit.edu	37	3	49723322	49723327	+	In_Frame_Del	DEL	GCGCTG	GCGCTG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:49723322_49723327delGCGCTG	ENST00000449682.2	-	10	1577_1582	c.1216_1221delCAGCGC	c.(1216-1221)del	p.QR406del	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	392	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704													9	70	---	---	---	---					
BAP1	8314	broad.mit.edu	37	3	52436801	52436803	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr3:52436801_52436803delCTT	ENST00000460680.1	-	15	2446_2448	c.1975_1977delAAG	c.(1975-1977)del	p.K659del	BAP1_ENST00000296288.5_In_Frame_Del_p.K641del	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	659	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCACCTTGAACTTCTTCCTCTTC	0.552			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							43	124	---	---	---	---					
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)afs	p.R483fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.470			T	PDGFRA	idiopathic hypereosinophilic syndrome								7	192	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr4:144381536_144381537insC	ENST00000262995.4	+	9	2216_2217	c.1789_1790insC	c.(1789-1791)cccfs	p.P597fs	GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406													11	242	---	---	---	---					
CDH6	1004	broad.mit.edu	37	5	31305299	31305302	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr5:31305299_31305302delAAGA	ENST00000265071.2	+	7	1283_1286	c.1018_1021delAAGA	c.(1018-1023)aafs	p.KK340fs	CDH6_ENST00000514738.1_Frame_Shift_Del_p.KK285fs	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	340	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTTTGAAAAGAAGAAAGTGTATAC	0.441													25	167	---	---	---	---					
SYCP2L	221711	broad.mit.edu	37	6	10955449	10955449	+	Splice_Site	DEL	A	A	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:10955449delA	ENST00000283141.6	+	24	2351	c.2056_splice	c.e24+1	p.P685_splice		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	685						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GAGAGTTGCCAGGTAACATCA	0.433											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	198	---	---	---	---					
KIAA0319	9856	broad.mit.edu	37	6	24601319	24601320	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:24601319_24601320insG	ENST00000378214.3	-	2	536_537	c.12_13insC	c.(10-15)cccaggfs	p.R5fs	KIAA0319_ENST00000430948.2_Intron|KIAA0319_ENST00000537886.1_Frame_Shift_Ins_p.R5fs|KIAA0319_ENST00000543707.1_Frame_Shift_Ins_p.R5fs|KIAA0319_ENST00000535378.1_5'UTR	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	5					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGCACACCTGTGGGGGGCGCCA	0.525													7	704	---	---	---	---					
ZNF318	24149	broad.mit.edu	37	6	43323600	43323601	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:43323600_43323601insC	ENST00000361428.2	-	4	1548_1549	c.1471_1472insG	c.(1471-1473)agafs	p.R491fs	ZNF318_ENST00000318149.3_Frame_Shift_Ins_p.R491fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	491					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CAGGAAGTCTGTGTGTCGCTCA	0.475													59	1259	---	---	---	---					
TFB1M	51106	broad.mit.edu	37	6	155635515	155635515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr6:155635515delG	ENST00000367166.4	-	1	103	c.48delC	c.(46-48)ccfs	p.P16fs	TFB1M_ENST00000480390.1_5'UTR	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		CTCGAATCGTGGGCAACGGAG	0.547													28	162	---	---	---	---					
FAM135B	51059	broad.mit.edu	37	8	139151231	139151232	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr8:139151231_139151232insT	ENST00000395297.1	-	18	4068_4069	c.3898_3899insA	c.(3898-3900)aggfs	p.R1300fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1300								p.T1300R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCACTGACCTGTTTTTTGGCTT	0.446										HNSCC(54;0.14)			7	332	---	---	---	---					
COL5A1	1289	broad.mit.edu	37	9	137717708	137717709	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr9:137717708_137717709insG	ENST00000371817.3	+	63	5439_5440	c.5025_5026insG	c.(5023-5028)gcggggfs	p.AG1675fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1675	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G1676W(1)|p.A1675A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTTCACAGCCGGGGGGTCGAC	0.594													7	371	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89692949	89692949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:89692949delT	ENST00000371953.3	+	5	1790	c.433delT	c.(433-435)ttfs	p.F145fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	145	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F145I(1)|p.A121_F145del(1)|p.F145_L146del(1)|p.F56fs*2(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)		TCGGGGCAAATTTTTAAAGGC	0.388		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)			55	191	---	---	---	---					
USMG5	84833	broad.mit.edu	37	10	105151997	105151997	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr10:105151997delT	ENST00000369825.1	-	4	613	c.131delA	c.(130-132)ttfs	p.Y44fs	USMG5_ENST00000309579.3_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000369815.1_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000337003.4_Frame_Shift_Del_p.Y44fs|USMG5_ENST00000369811.1_Frame_Shift_Del_p.Y44fs			Q96IX5	USMG5_HUMAN	up-regulated during skeletal muscle growth 5 homolog (mouse)	44						integral to membrane				breast(1)	1		Colorectal(252;0.142)		Epithelial(162;3.94e-09)|all cancers(201;2.76e-08)|BRCA - Breast invasive adenocarcinoma(275;0.197)		TAACTTGAAATATAAGACAAT	0.308													23	71	---	---	---	---					
E2F8	79733	broad.mit.edu	37	11	19247356	19247357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:19247356_19247357insC	ENST00000527884.1	-	11	2180_2181	c.1948_1949insG	c.(1948-1950)agafs	p.R650fs	E2F8_ENST00000529188.1_5'UTR|RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Frame_Shift_Ins_p.R650fs	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	650					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AATGGACTCTGCCCCCAGGGAT	0.450													7	1011	---	---	---	---					
C11orf88	399949	broad.mit.edu	37	11	111385565	111385566	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:111385565_111385566insC	ENST00000529167.1	+	1	56_57	c.56_57insC	c.(55-57)tccfs	p.S19fs	C11orf88_ENST00000375618.4_Frame_Shift_Ins_p.S19fs|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000332814.6_Frame_Shift_Ins_p.S19fs			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	19										endometrium(1)|large_intestine(3)|lung(2)	6						CAGGAAATGTGCCCCCCGGGAT	0.584											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	91	---	---	---	---					
OR10G7	390265	broad.mit.edu	37	11	123909635	123909636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:123909635_123909636insG	ENST00000330487.5	-	1	81_82	c.73_74insC	c.(73-75)cttfs	p.L25fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GATTCCAAAGAGGGGGGCGTCC	0.569													7	634	---	---	---	---					
PKNOX2	63876	broad.mit.edu	37	11	125267910	125267911	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr11:125267910_125267911insG	ENST00000298282.9	+	7	811_812	c.540_541insG	c.(538-543)ctggggfs	p.LG180fs	PKNOX2_ENST00000542175.1_Frame_Shift_Ins_p.LG116fs|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	180						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GGAATGATCTAGGGGGGCCCTA	0.535													8	279	---	---	---	---					
NEDD1	121441	broad.mit.edu	37	12	97311397	97311404	+	Splice_Site	DEL	AGCAAAAG	AGCAAAAG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr12:97311397_97311404delAGCAAAAG	ENST00000266742.4	+	5	570_576	c.231_splice	c.e5-1	p.77_splice	NEDD1_ENST00000411739.2_5'UTR|NEDD1_ENST00000429527.2_Splice_Site_p.77_splice|NEDD1_ENST00000555114.1_Intron|NEDD1_ENST00000457368.2_5'UTR|NEDD1_ENST00000557644.1_Splice_Site_p.84_splice	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	77					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ttttttaaataGCAAAAGCAGACATGTG	0.303													13	101	---	---	---	---					
LEO1	123169	broad.mit.edu	37	15	52246708	52246708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:52246708delT	ENST00000299601.5	-	7	1370	c.1310delA	c.(1309-1311)atfs	p.N437fs	LEO1_ENST00000315141.5_Intron	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	437					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TATCCGAGCATTGCTTTCTTT	0.393													85	318	---	---	---	---					
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)del	p.L591del	SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547													7	202	---	---	---	---					
ZSCAN2	54993	broad.mit.edu	37	15	85164518	85164519	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr15:85164518_85164519insA	ENST00000448803.2	+	3	1384_1385	c.1092_1093insA	c.(1090-1095)tgaagafs	p.R365fs	ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000358472.3_Frame_Shift_Ins_p.R215fs|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000327179.6_Frame_Shift_Ins_p.R364fs|ZSCAN2_ENST00000546148.1_Frame_Shift_Ins_p.R365fs	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	365					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCTACGAATGTAAAGAATGCGG	0.495													45	392	---	---	---	---					
RP11-812E19.7	0	broad.mit.edu	37	16	33661285	33661286	+	RNA	INS	-	-	C			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr16:33661285_33661286insC	ENST00000563019.1	-	0	45_46																											GGTTCTGTGCGCCCCCCGCAGC	0.525													7	68	---	---	---	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)del	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_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													7	76	---	---	---	---					
ZNF271P	10778	broad.mit.edu	37	18	32887167	32887171	+	RNA	DEL	TATGC	TATGC	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr18:32887167_32887171delTATGC	ENST00000399070.3	+	0	1561_1565					NR_024565.1|NR_024566.1															large_intestine(3)|lung(9)	12						AGAGAAACCATATGCATGTAATCAG	0.385													15	174	---	---	---	---					
ZNF347	84671	broad.mit.edu	37	19	53645671	53645671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr19:53645671delT	ENST00000452676.2	-	5	839	c.413delA	c.(412-414)atfs	p.N138fs	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.N138fs|ZNF347_ENST00000334197.7_Frame_Shift_Del_p.N137fs	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCCATGTGTATTTTTCTGGAC	0.413													116	946	---	---	---	---					
ZFP64	55734	broad.mit.edu	37	20	50769075	50769076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr20:50769075_50769076insG	ENST00000216923.4	-	6	2004_2005	c.1655_1656insC	c.(1654-1656)ccafs	p.P552fs	ZFP64_ENST00000346617.4_Frame_Shift_Ins_p.P498fs|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371515.4_Frame_Shift_Ins_p.P550fs|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGAGGACTGAGGGGGGGCGAT	0.673													11	158	---	---	---	---					
TMPRSS3	64699	broad.mit.edu	37	21	43804123	43804130	+	Splice_Site	DEL	CTAAAGCG	CTAAAGCG	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr21:43804123_43804130delCTAAAGCG	ENST00000291532.3	-	7	1528		c.e7-1		TMPRSS3_ENST00000380399.1_Splice_Site|TMPRSS3_ENST00000398397.3_Splice_Site|TMPRSS3_ENST00000474596.1_Splice_Site|TMPRSS3_ENST00000398405.1_Splice_Site|TMPRSS3_ENST00000433957.2_Splice_Site	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3						cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ACATCCCTCCCTAAAGCGGAGAAAAAGT	0.471													8	25	---	---	---	---					
IGLV3-16	28799	broad.mit.edu	37	22	23090202	23090202	+	RNA	DEL	A	A	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chr22:23090202delA	ENST00000390311.2	+	0	179																											AAGCATTGCCAAAAAAATATG	0.537													7	375	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-A3-3308-01A-01W-0886-08	TCGA-A3-3308-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eeae0a57-fcf3-464f-8f4c-e85275f1d82f	f25c0823-6513-40f0-b88b-d8f9128e066a	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	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													7	942	---	---	---	---