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
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													11	467					0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122038752	122038752	+	Missense_Mutation	SNP	G	G	A	rs12614667		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:122038752G>A	ENST00000263707.5	-	2	255	c.158C>T	c.(157-159)gCt>gTt	p.A53V		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	53					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GGACGTGGCAGCACACAACAC	0.622000													6	574					0	0	1	0	0
FAM167A	83648	broad.mit.edu	37	8	11301851	11301851	+	Missense_Mutation	SNP	C	C	T	rs146121515		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr8:11301851C>T	ENST00000284486.4	-	2	608	c.70G>A	c.(70-72)Gat>Aat	p.D24N	FAM167A_ENST00000528897.1_Missense_Mutation_p.D24N|FAM167A_ENST00000534308.1_Missense_Mutation_p.D24N	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	24										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						AGGTGGTCATCGGGTGGTGCG	0.647000													188	752					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52145205	52145205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:52145205G>A	ENST00000354534.5	+	14	2376	c.2198G>A	c.(2197-2199)tGg>tAg	p.W733*	SCN8A_ENST00000545061.1_Nonsense_Mutation_p.W733*|SCN8A_ENST00000550891.1_Nonsense_Mutation_p.W733*	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	733					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TTCCTCATCTGGGAGTGCCAC	0.443000													29	661					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211512	78211512	+	RNA	SNP	C	C	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr15:78211512C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GTTCCTTGCTCAGGACACTCA	0.557000													6	592					0.0581538	0.0586153	1	1	0
ZAN	7455	broad.mit.edu	37	7	100350550	100350550	+	RNA	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:100350550T>C	ENST00000542585.1	+	0	2970				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.L941P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACTCACCATCCCC	0.517000													6	766					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305604	54305604	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr15:54305604C>T	ENST00000545554.1	+	1	504	c.504C>T	c.(502-504)gaC>gaT	p.D168D	UNC13C_ENST00000537900.1_Silent_p.D168D|UNC13C_ENST00000260323.11_Silent_p.D168D			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	168					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCAGCTCTGACGGGGAGCGTA	0.473000													6	510					0	0	1	0	0
DRD5	0	broad.mit.edu	37	4	9783962	9783962	+	Silent	SNP	G	G	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:9783962G>T	ENST00000304374.2	+	1	705	c.309G>T	c.(307-309)gtG>gtT	p.V103V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	103					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.V103V(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCGCCGAGGTGGCCGGTTACT	0.612000													6	233					9.31168e-06	9.69331e-06	1	1	0
CX3CL1	6376	broad.mit.edu	37	16	57413650	57413650	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:57413650G>A	ENST00000565912.1	+	1	2767	c.61G>A	c.(61-63)Ggc>Agc	p.G21S	CX3CL1_ENST00000564948.1_Intron|CX3CL1_ENST00000563383.1_Missense_Mutation_p.G65S|CX3CL1_ENST00000006053.6_Missense_Mutation_p.G59S			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	59					cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	p.G59C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCATCATGCGGCAAACGCGC	0.512000													8	310					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													7	154					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													6	217					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443000													4	156					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32759184	32759184	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr13:32759184G>A	ENST00000380250.3	+	26	3714	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1073					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GACTTGACCCGCATGCTCCTA	0.418000													6	622					0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	337651	337651	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:337651G>A	ENST00000240499.7	+	2	233	c.84G>A	c.(82-84)ttG>ttA	p.L28L	ZNF141_ENST00000505939.1_Silent_p.L28L|ZNF141_ENST00000512994.1_Silent_p.L28L	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	28	KRAB.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.L28L(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGCAGAATTTGTATAGAGATG	0.388000													5	526					0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12125831	12125831	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:12125831C>T	ENST00000419886.2	-	5	2037	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Silent_p.P617P			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TACATTTATACGGTTTCTCTC	0.448000													5	372					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													8	221					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021882	51021882	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:51021882G>A	ENST00000599957.1	-	3	1285	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A363V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	363	LRRCT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GATGACGGGCGCATAGCAGGT	0.667000													4	191					0	0	1	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:97869931A>T	ENST00000420699.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289000													3	40					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359477	72359477	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:72359477C>T	ENST00000001146.2	-	6	1621	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R398H|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R282H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	473			R -> C.		cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAAGGTGATGCGGGGGAAGGT	0.647000													6	61					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24511502	24511502	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:24511502G>T	ENST00000264463.4	-	6	1443	c.936C>A	c.(934-936)gaC>gaA	p.D312E		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	312	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TATCAGTACCGTCACCATCAA	0.438000										HNSCC(23;0.051)			13	609					2.48551e-13	2.67508e-13	1	1	0
CROCCP2	0	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													7	52					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237632393	237632393	+	Splice_Site	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:237632393G>A	ENST00000366574.2	+	17	1931	c.1612_splice	c.e17-1	p.A538_splice	RYR2_ENST00000542537.1_Splice_Site_p.A522_splice|RYR2_ENST00000360064.6_Splice_Site_p.A536_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	538					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTTGCAGCGGCTCTAATTA	0.378000													8	252					0	0	1	0	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													5	302					0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110768613	110768613	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:110768613C>T	ENST00000369787.3	+	3	1659	c.1632C>T	c.(1630-1632)ggC>ggT	p.G544G	KCNC4_ENST00000413138.3_Silent_p.G544G|KCNC4_ENST00000438661.2_Silent_p.G544G|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	544					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCAGAATGGCGATGCCAACG	0.652000													5	322					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125599973	125599973	+	Silent	SNP	A	A	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:125599973A>T	ENST00000504087.1	-	3	1637	c.600T>A	c.(598-600)atT>atA	p.I200I	ANKRD50_ENST00000515641.1_Silent_p.I21I	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	200										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CACCTTCAGTAATGTTACACC	0.453000													18	588					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49391585	49391585	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:49391585C>T	ENST00000421952.2	-	2	1095	c.1074G>A	c.(1072-1074)ccG>ccA	p.P358P		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	358	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GAGCGGGATGCGGGGCACAGG	0.597000													5	247					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155559	22155559	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:22155559C>T	ENST00000397126.4	-	4	2425	c.2277G>A	c.(2275-2277)aaG>aaA	p.K759K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGACCACTTATAGGCTT	0.373000													6	332					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768717	127768717	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:127768717C>T	ENST00000483725.3	-	5	1083	c.747G>A	c.(745-747)acG>acA	p.T249T	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	249							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACATTTTTTCGTAGAATTGC	0.388000													14	440					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166866301	166866301	+	Silent	SNP	T	T	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:166866301T>A	ENST00000423058.2	-	20	3947	c.3930A>T	c.(3928-3930)ggA>ggT	p.G1310G	SCN1A_ENST00000375405.3_Silent_p.G1299G|SCN1A_ENST00000303395.4_Silent_p.G1310G|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.G1282G	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1310						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATTTGATGGCTCCAAGTTCTG	0.378000													5	387					0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8368698	8368698	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:8368698G>A	ENST00000356406.5	-	18	2170	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	ACOX3_ENST00000515797.1_5'UTR|ACOX3_ENST00000413009.2_3'UTR|ACOX3_ENST00000503233.1_Missense_Mutation_p.S698L	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	698					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTAGAGCTTCGATTTCAGACT	0.517000													8	416					0	0	1	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39383115	39383115	+	Missense_Mutation	SNP	C	C	T	rs141998127	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:39383115C>T	ENST00000377721.3	+	1	216	c.209C>T	c.(208-210)aCc>aTc	p.T70I	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.T70I	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	70	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCCACCTGTGTGACC	0.652000													6	377					0	0	1	0	0
MLTK	0	broad.mit.edu	37	2	174131396	174131396	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:174131396G>A	ENST00000375213.3	+	20	2399	c.2321G>A	c.(2320-2322)cGg>cAg	p.R774Q	MLTK_ENST00000409176.2_Missense_Mutation_p.R774Q|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2																					GTGGAATACCGGAAAAAGCCC	0.512000													4	86					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													10	324					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39833205	39833205	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr20:39833205C>T	ENST00000309060.3	-	4	767	c.352G>A	c.(352-354)Gca>Aca	p.A118T	ZHX3_ENST00000560361.1_Missense_Mutation_p.A118T|ZHX3_ENST00000540170.1_Missense_Mutation_p.A118T|ZHX3_ENST00000557816.1_Missense_Mutation_p.A118T|ZHX3_ENST00000544979.2_Missense_Mutation_p.A118T|ZHX3_ENST00000432768.2_Missense_Mutation_p.A118T|ZHX3_ENST00000558993.1_Missense_Mutation_p.A118T|ZHX3_ENST00000559234.1_Missense_Mutation_p.A118T			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	118					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGGTTTTTGCCAGAAAACTG	0.493000													5	470					0	0	1	0	0
RPLP0P2	0	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2																						ctgctgctgctgcAGCCCCAG	0.552000													4	177					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73008307	73008307	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:73008307A>G	ENST00000313375.3	-	17	2494	c.2447T>C	c.(2446-2448)cTg>cCg	p.L816P	MLXIPL_ENST00000354613.1_Missense_Mutation_p.L795P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L723P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L814P|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L797P|MLXIPL_ENST00000434326.1_3'UTR	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	816					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TAGGGAGTTCAGGACAGCTGG	0.607000													5	163					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170044544	170044544	+	Silent	SNP	G	G	A	rs143637076		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:170044544G>A	ENST00000263816.3	-	49	9549	c.9264C>T	c.(9262-9264)atC>atT	p.I3088I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3088	LDL-receptor class A 25.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.I3088I(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCATCATCTCGATGCAGCGCC	0.512000													12	395					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629133	1629133	+	Silent	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:1629133A>G	ENST00000399685.1	-	1	560	c.483T>C	c.(481-483)tgT>tgC	p.C161C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	161	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		agcagGGCTTACAGCAGCTGG	0.617000													7	1200					0	0	1	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184216	26184216	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:26184216T>G	ENST00000356530.3	+	1	259	c.193T>G	c.(193-195)Tcc>Gcc	p.S65A		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						GATCATGAATTCCTTTGTCAA	0.587000													10	836					0	0	1	0	0
HN1	51155	broad.mit.edu	37	17	73132223	73132223	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:73132223C>T	ENST00000476258.1	-	5	1408	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	HN1_ENST00000470924.1_Missense_Mutation_p.G101S|HN1_ENST00000481647.1_Missense_Mutation_p.G101S|HN1_ENST00000482348.1_Missense_Mutation_p.G101S|HN1_ENST00000356033.4_Silent_p.A140A|HN1_ENST00000392566.2_Missense_Mutation_p.G101S|HN1_ENST00000409753.3_Missense_Mutation_p.G147S|HN1_ENST00000405458.3_Missense_Mutation_p.G101S			Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	147						nucleus			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CTGGACTTGCCGCCAGGGGGA	0.617000													11	465					0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143704424	143704424	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:143704424C>G	ENST00000315691.3	+	2	1232	c.697C>G	c.(697-699)Ctt>Gtt	p.L233V	C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000495414.1_Missense_Mutation_p.L24V|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	233						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCAAAGTATCTTGGAGCTTG	0.393000													13	593					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78655890	78655890	+	Silent	SNP	G	G	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:78655890G>T	ENST00000436010.2	-	27	5617	c.4620C>A	c.(4618-4620)ctC>ctA	p.L1540L	ROBO1_ENST00000467549.1_Silent_p.L1479L|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000495273.1_Silent_p.L1534L|ROBO1_ENST00000464233.1_Silent_p.L1579L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1579					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TACCTTGGATGAGATGAGTCT	0.448000													29	1497					2.35188e-11	2.50999e-11	1	1	0
AP000346.2	0	broad.mit.edu	37	22	23981016	23981016	+	RNA	SNP	A	A	G	rs111645330		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr22:23981016A>G	ENST00000390329.2	-	0	112				AP000347.4_ENST00000430707.2_RNA																							CCAGGTCACCATCAAGATTCC	0.552000													5	195					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433000													8	394					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178562924	178562924	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:178562924G>A	ENST00000251582.7	-	13	2172	c.2071C>T	c.(2071-2073)Cgc>Tgc	p.R691C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	691	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGTCCCCGCGCACACAGAGG	0.637000													7	242					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28370319	28370319	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr15:28370319C>T	ENST00000261609.7	-	84	12931	c.12823G>A	c.(12823-12825)Gac>Aac	p.D4275N		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4275					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATCATTGTCGCCCCATGTA	0.522000													29	1056					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967676	21967676	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:21967676C>T	ENST00000298717.4	-	8	1563	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	471					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GTGACCTGTACGGCCTGTCCG	0.443000													24	717					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108178642	108178642	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:108178642G>A	ENST00000278616.4	+	38	6078	c.5693G>A	c.(5692-5694)cGa>cAa	p.R1898Q	ATM_ENST00000452508.2_Missense_Mutation_p.R1898Q	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1898					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CACTTTTTCCGATGCTGTTTG	0.398000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			6	151					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48144186	48144186	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:48144186C>T	ENST00000405493.2	-	7	777	c.568G>A	c.(568-570)Gag>Aag	p.E190K	RAPGEF3_ENST00000395358.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E190K|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E190K|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.E190K|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.E232K	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	190					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGGTCCAGCTCTTCATCCGTG	0.647000													6	147					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79282761	79282761	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chrX:79282761A>G	ENST00000442340.1	+	7	935	c.445A>G	c.(445-447)Aaa>Gaa	p.K149E	TBX22_ENST00000373294.5_Missense_Mutation_p.K269E|TBX22_ENST00000373296.3_Missense_Mutation_p.K269E|TBX22_ENST00000373291.1_Missense_Mutation_p.K149E	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	269					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATAGATTACGAAACTAAAAAT	0.348000													7	110					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125893363	125893363	+	Silent	SNP	C	C	T	rs113593771	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:125893363C>T	ENST00000392693.3	-	2	136	c.9G>A	c.(7-9)ccG>ccA	p.P3P	CDON_ENST00000263577.7_Silent_p.P3P	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	3					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GTCCAAGATCCGGATGCATAG	0.443000													5	403					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202606452	202606452	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:202606452C>T	ENST00000264276.6	-	11	2668	c.2296G>A	c.(2296-2298)Gcc>Acc	p.A766T	ALS2_ENST00000457679.2_Missense_Mutation_p.A78T	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	766	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AAACTCCTGGCTTCCTTTACC	0.488000													8	200					0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249558	71249558	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:71249558T>A	ENST00000398534.3	+	1	488	c.457T>A	c.(457-459)Tgc>Agc	p.C153S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	153	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TAAGCCCTGCTGCTGCTCTTC	0.602000													11	1189					0	0	1	0	0
PPM1L	151742	broad.mit.edu	37	3	160783197	160783197	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:160783197C>T	ENST00000498165.1	+	3	682	c.581C>T	c.(580-582)aCg>aTg	p.T194M	PPM1L_ENST00000295839.9_Missense_Mutation_p.T67M|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.T15M	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	194	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.T194K(1)|p.T15K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TCAGGCACAACGTGTTTGATT	0.478000													9	415					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	93511323	93511323	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:93511323T>C	ENST00000282020.4	+	2	388	c.130T>C	c.(130-132)Ttt>Ctt	p.F44L	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.F44L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	44					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGATGAGGTATTTCGCACTGC	0.383000													6	420					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101083654	101083654	+	Silent	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr8:101083654A>G	ENST00000360863.6	-	6	731	c.537T>C	c.(535-537)ccT>ccC	p.P179P	RGS22_ENST00000523437.1_Silent_p.P179P|RGS22_ENST00000523287.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	179					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTCAGTGGCAGGAGGTGGTA	0.398000													8	412					0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39506938	39506938	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:39506938C>T	ENST00000007735.3	-	1	126	c.82G>A	c.(82-84)Ggc>Agc	p.G28S		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	28	Head.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				AGGGTGCAGCCGTGGCAGCTG	0.642000													8	318					0	0	1	0	0
PCDHA1	0	broad.mit.edu	37	5	140167494	140167494	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:140167494C>T	ENST00000504120.2	+	1	1619	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGATGCGGGCGTGCCG	0.682000													23	520					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56333270	56333270	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:56333270C>T	ENST00000331886.5	+	9	1120	c.666C>T	c.(664-666)tgC>tgT	p.C222C	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.C222C|DGKA_ENST00000551156.1_Silent_p.C222C	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	222					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)	GCAATCTGTGCGAGTCAAGCA	0.557000													6	585					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228400270	228400270	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:228400270C>T	ENST00000570156.2	+	2	860	c.786C>T	c.(784-786)acC>acT	p.T262T	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000422127.1_Silent_p.T262T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.T262T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	262	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTACGTGACCGGCGAGCCCA	0.711000													6	320					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	195					0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78174236	78174236	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:78174236C>T	ENST00000216489.3	-	1	127	c.112G>A	c.(112-114)Gca>Aca	p.A38T		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	38					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TCCAGGTCTGCGGTCCCGGGC	0.672000													5	342					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510502	169510502	+	Missense_Mutation	SNP	G	G	T	rs140018525	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:169510502G>T	ENST00000367796.3	-	13	4042	c.3841C>A	c.(3841-3843)Ctt>Att	p.L1281I	F5_ENST00000367797.3_Missense_Mutation_p.L1276I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1276	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGGAGAAAGGGGCATCTGA	0.502000													11	1207					1.5842e-08	1.67661e-08	1	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120352231	120352231	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:120352231G>A	ENST00000397843.2	+	39	4666	c.4500G>A	c.(4498-4500)caG>caA	p.Q1500Q	ARHGEF12_ENST00000356641.3_Silent_p.Q1481Q|ARHGEF12_ENST00000532993.1_Silent_p.Q1397Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1500					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|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	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAGATTCACAGAGCCAGATCA	0.458000			T	MLL	AML								10	343					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													6	549					0	0	1	0	0
OR6K6	128371	broad.mit.edu	37	1	158725052	158725052	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:158725052C>A	ENST00000368144.2	+	1	543	c.447C>A	c.(445-447)gaC>gaA	p.D149E		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGGCCATTGACAGGTACATAG	0.488000													9	302					0.00448238	0.00459083	1	1	0
PCDHGA3	0	broad.mit.edu	37	5	140723837	140723837	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:140723837G>A	ENST00000253812.6	+	1	237	c.237G>A	c.(235-237)ccG>ccA	p.P79P	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGAATCCGCAAAGCGGCA	0.587000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	581					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917793	2917793	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:2917793T>C	ENST00000306908.5	+	4	1322	c.1174T>C	c.(1174-1176)Tat>Cat	p.Y392H	ZNF57_ENST00000523428.1_Missense_Mutation_p.Y360H|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCAGCTCTATAAATGTGA	0.438000													5	412					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52544021	52544021	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:52544021C>T	ENST00000321725.6	+	23	2559	c.2483C>T	c.(2482-2484)gCc>gTc	p.A828V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	828	EGF-like 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGGGCTGGCCCAGCACTGC	0.662000													5	367					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572000													5	349					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38954899	38954899	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:38954899C>T	ENST00000357387.3	-	27	2704	c.2674G>A	c.(2674-2676)Ggc>Agc	p.G892S	RICTOR_ENST00000296782.5_Missense_Mutation_p.G892S|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	892					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAATGGCAGCCTGTTTTATGG	0.313000													13	523					0	0	1	0	0
CSAG4	0	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													16	370					0.000132079	0.000136374	1	1	0
CEP170P1	0	broad.mit.edu	37	4	119461457	119461457	+	RNA	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:119461457C>T	ENST00000412784.2	+	0	354					NR_003135.2																						AAGGAAACAACGGTCGATCTG	0.443000													6	170					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	166					0	0	1	0	0
TXNDC2	0	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G	rs146821851		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547000													6	644					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367484.3_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000													8	584					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657755	49657755	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:49657755T>C	ENST00000252825.4	-	1	926	c.740A>G	c.(739-741)gAc>gGc	p.D247G	HRC_ENST00000595625.1_Missense_Mutation_p.D247G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	247	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Asp-rich (acidic).				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		atcatcatcgtcatcttcttc	0.507000													4	117					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96762083	96762083	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:96762083G>A	ENST00000295266.4	+	1	845	c.782G>A	c.(781-783)cGt>cAt	p.R261H		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	261					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTGTGTGTTCGTGAGGCAACA	0.473000													5	237					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	66009102	66009102	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:66009102C>T	ENST00000320580.4	+	22	2667	c.2634C>T	c.(2632-2634)gtC>gtT	p.V878V	PACS1_ENST00000524815.1_Silent_p.V6V|PACS1_ENST00000529757.1_Silent_p.V414V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	878					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGACTGTGGTCACCAAAGAAA	0.582000													6	280					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10463185	10463185	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:10463185C>T	ENST00000525621.1	-	23	3724	c.3243G>A	c.(3241-3243)gcG>gcA	p.A1081A	TYK2_ENST00000524462.1_Silent_p.A896A|TYK2_ENST00000264818.6_Silent_p.A1081A|TYK2_ENST00000529422.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1081	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGACATCTGACGCATAGTAGA	0.637000													15	440					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325720	152325720	+	Silent	SNP	C	C	T	rs147635537		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:152325720C>T	ENST00000388718.5	-	3	4614	c.4542G>A	c.(4540-4542)tcG>tcA	p.S1514S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1514							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATGTGTGTGCGAGCCCCCTG	0.493000													9	1294					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													6	601					0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984668	41984668	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:41984668G>A	ENST00000333141.5	+	1	956	c.859G>A	c.(859-861)Gca>Aca	p.A287T		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	287										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						ATGCCTGATGGCATCAGACAT	0.532000													6	483					0	0	1	0	0
ZNF57	126295	broad.mit.edu	37	19	2917857	2917857	+	Missense_Mutation	SNP	C	C	T	rs148390269		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:2917857C>T	ENST00000306908.5	+	4	1386	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	ZNF57_ENST00000523428.1_Missense_Mutation_p.T381M|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTGAGGACGCACACTGGA	0.438000													6	402					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456659	5456659	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:5456659T>C	ENST00000222033.4	+	1	1234	c.1157T>C	c.(1156-1158)aTt>aCt	p.I386T		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	386						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ATCTGGGCCATTCAAGTCCAG	0.662000													10	322					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175661	51175661	+	Missense_Mutation	SNP	T	T	C	rs139646526	byFrequency	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:51175661T>C	ENST00000440970.1	-	2	612	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgctgctgctgctgctg	0.632000													5	155					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175086217	175086217	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:175086217G>A	ENST00000239462.4	+	10	2375	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	754	Fibronectin type-III 6.				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)		GGGAGGTTCCGGTGGGGAAGG	0.637000													5	463					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	220					0.0167234	0.016991	1	1	0
USP32	84669	broad.mit.edu	37	17	58289395	58289395	+	Silent	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:58289395A>G	ENST00000300896.4	-	19	2363	c.2169T>C	c.(2167-2169)gaT>gaC	p.D723D	USP32_ENST00000592339.1_Silent_p.D393D	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	723					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCTTGTGTCTATCTATTTTAC	0.308000													5	286					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													6	93					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189945762	189945762	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:189945762C>T	ENST00000374866.3	-	13	1134	c.860G>A	c.(859-861)cGt>cAt	p.R287H		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	287					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGGAAATCCACGAGCTCCCTG	0.413000													7	282					0	0	1	0	0
VAMP2	6844	broad.mit.edu	37	17	8064816	8064816	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:8064816G>A	ENST00000316509.6	-	4	404	c.309C>T	c.(307-309)tgC>tgT	p.C103C	RP11-599B13.6_ENST00000498285.1_Silent_p.C103C|VAMP2_ENST00000488857.1_Silent_p.C105C|VAMP2_ENST00000481878.1_Silent_p.C103C|VAMP2_ENST00000404970.3_Silent_p.C58C	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN	vesicle-associated membrane protein 2 (synaptobrevin 2)	103					energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome										Botulinum Toxin Type B(DB00042)	GGATGATGGCGCAAATCACTC	0.517000													5	180					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103907023	103907023	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:103907023G>A	ENST00000278070.2	+	9	4313	c.4274G>A	c.(4273-4275)cGc>cAc	p.R1425H	PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1425	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCCGAGGCCGCAACAGCCGT	0.627000													5	391					0	0	1	0	0
RP11-783K16.14	0	broad.mit.edu	37	11	63997583	63997583	+	RNA	SNP	A	A	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:63997583A>C	ENST00000534988.1	-	0	99																											AAAAAAAAAAACCCGCCCAGC	0.532000													7	4					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular	zinc ion binding	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338000													6	159					0	0	1	0	0
LCN1	3933	broad.mit.edu	37	9	138413373	138413373	+	Silent	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr9:138413373T>C	ENST00000263598.2	+	1	90	c.30T>C	c.(28-30)ctT>ctC	p.L10L	LCN1_ENST00000371781.3_Silent_p.L10L	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	10					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	p.L10L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CCGTCAGCCTTGGCCTCATTG	0.667000													5	158					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84								p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													11	1251					0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9236903	9236903	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:9236903C>A	ENST00000305444.2	-	1	723	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AAATGTGACCCGCAGATGGAA	0.448000													5	578					0.184627	0.184627	1	1	0
ARHGAP22	58504	broad.mit.edu	37	10	49791051	49791051	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:49791051G>A	ENST00000249601.4	-	2	477	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ARHGAP22_ENST00000417912.2_Silent_p.L61L|ARHGAP22_ENST00000435790.2_Silent_p.L67L|ARHGAP22_ENST00000491108.1_5'UTR	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	61	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCCACGCAGCACAAACCAG	0.607000													6	730					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45503147	45503147	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr21:45503147G>A	ENST00000291574.4	+	14	2377	c.2202G>A	c.(2200-2202)ctG>ctA	p.L734L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	734					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ACGTGACCCTGGAACCAGGGG	0.572000													6	659					0	0	1	0	0
ESPNP	0	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													10	42	---	---	---	---					
AHDC1	27245	broad.mit.edu	37	1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:27875353_27875355delAGG	ENST00000374011.2	-	6	4240_4242	c.3272_3274delCCT	c.(3271-3276)ttc>t	p.SF1091del	AHDC1_ENST00000247087.5_In_Frame_Del_p.SF1091del|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665													7	181	---	---	---	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													11	877	---	---	---	---					
CDC14A	8556	broad.mit.edu	37	1	100889836	100889837	+	Frame_Shift_Ins	INS	-	-	C	rs138415707		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:100889836_100889837insC	ENST00000370125.2	+	5	856_857	c.368_369insC	c.(367-369)accfs	p.T123fs	CDC14A_ENST00000544534.1_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000542213.1_Frame_Shift_Ins_p.T65fs|CDC14A_ENST00000370124.3_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000361544.6_Frame_Shift_Ins_p.T123fs|CDC14A_ENST00000336454.3_Frame_Shift_Ins_p.T123fs			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGGCTCAAACCCCCCCTATC	0.401													8	617	---	---	---	---					
EPS8L3	79574	broad.mit.edu	37	1	110300579	110300580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:110300579_110300580insT	ENST00000369805.3	-	9	1050_1051	c.821_822insA	c.(820-822)aaafs	p.K274fs	EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K273fs|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K273fs|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	273						cytoplasm	protein binding	p.N274fs*33(2)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CCTGGTCCTTGTTTTTTTTCCC	0.545													7	610	---	---	---	---					
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	RNA	INS	-	-	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282													10	21	---	---	---	---					
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaa>ga	p.EE493del		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542													7	840	---	---	---	---					
EIF2AK3	9451	broad.mit.edu	37	2	88874269	88874270	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:88874269_88874270delCT	ENST00000303236.3	-	13	3032_3033	c.2731_2732delAG	c.(2731-2733)gfs	p.R911fs	EIF2AK3_ENST00000419748.1_Frame_Shift_Del_p.R760fs|EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	911	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ACACACGCTCCTCTCTCTCTCC	0.465													7	461	---	---	---	---					
GAL3ST2	64090	broad.mit.edu	37	2	242738494	242738496	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:242738494_242738496delTCC	ENST00000192314.6	+	2	175_177	c.44_46delTCC	c.(43-48)atc>a	p.IL15del		NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	15					biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity	p.L16I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTCCGGGTCATCCTCCTCCTCCT	0.631													8	402	---	---	---	---					
IL17RB	55540	broad.mit.edu	37	3	53889347	53889347	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:53889347delA	ENST00000288167.3	+	6	517	c.508delA	c.(508-510)aafs	p.K172fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	172					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)		AATGAAATATAAAAAAAAGTG	0.383													8	578	---	---	---	---					
ZNF717	100131827	broad.mit.edu	37	3	75790810	75790811	+	Frame_Shift_Ins	INS	-	-	T	rs76346895		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:75790810_75790811insT	ENST00000422325.1	-	3	456_457	c.134_135insA	c.(133-135)actfs	p.T45fs	ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs	NM_001128223.1	NP_001121695.1	C9JSV9	C9JSV9_HUMAN	zinc finger protein 717	45					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCCTGTACAGGGTCCTCTGAGC	0.510													7	19	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gca>gc	p.AA180del	TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483													7	318	---	---	---	---					
RP11-167H9.4	0	broad.mit.edu	37	3	149769296	149769296	+	RNA	DEL	C	C	-	rs59377959		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:149769296delC	ENST00000487840.1	+	0	46																											TTCCTGGTGTCtttttttttt	0.463													7	219	---	---	---	---					
TMEM175	84286	broad.mit.edu	37	4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tfs	p.C144fs	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515													12	832	---	---	---	---					
LIAS	11019	broad.mit.edu	37	4	39462464	39462464	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:39462464delA	ENST00000261434.3	+	2	218	c.100delA	c.(100-102)aafs	p.K36fs	LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN	lipoic acid synthetase	36					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	p.K36fs*31(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	CTTGCCAGATAAAAAAAAGGA	0.393													9	880	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaa>a	p.KE85del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	85					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414													7	676	---	---	---	---					
CARD6	84674	broad.mit.edu	37	5	40853094	40853094	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:40853094delT	ENST00000254691.5	+	3	1859	c.1660delT	c.(1660-1662)ttfs	p.F556fs	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	556					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTCAGCTGTGTTTTTTTTCAC	0.418													7	668	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:146350671_146350672insT	ENST00000392299.2	+	2	488_489	c.18_19insT	c.(16-21)ttttttfs	p.FF6fs	GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	6					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTCCTTTTGTTTTTTTTCCC	0.644													11	982	---	---	---	---					
GLCCI1	113263	broad.mit.edu	37	7	8126097	8126099	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:8126097_8126099delCAG	ENST00000223145.5	+	8	2130_2132	c.1573_1575delCAG	c.(1573-1575)del	p.Q528del		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	528	Poly-Gln.									endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCAGCCATCCCAGCAGCAGCAGC	0.562													7	1289	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:39379288_39379290delCAG	ENST00000518318.2	+	5	601_603	c.559_561delCAG	c.(559-561)del	p.Q196del	POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728).	central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616													8	90	---	---	---	---					
ATP6V0A4	50617	broad.mit.edu	37	7	138394465	138394466	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:138394465_138394466insC	ENST00000310018.2	-	21	2614_2615	c.2332_2333insG	c.(2332-2334)tttfs	p.F778fs	ATP6V0A4_ENST00000393054.1_Frame_Shift_Ins_p.F778fs|ATP6V0A4_ENST00000353492.4_Frame_Shift_Ins_p.F778fs	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	778					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AATAATAAAAACCCCGACGATT	0.530													10	870	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agt>ag	p.SS858del		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													8	337	---	---	---	---					
KIF20B	9585	broad.mit.edu	37	10	91498335	91498337	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:91498335_91498337delAAG	ENST00000416354.1	+	20	3899_3901	c.3827_3829delAAG	c.(3826-3831)aaa>a	p.KE1276del	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_In_Frame_Del_p.KE1206del|KIF20B_ENST00000394289.2_In_Frame_Del_p.KE1246del|KIF20B_ENST00000371728.3_In_Frame_Del_p.KE1246del			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1246					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTTCAATTAAAAGAAGAAGAAGA	0.276													7	251	---	---	---	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:281553_281555delGAG	ENST00000534750.1	+	4	2024_2026	c.1819_1821delGAG	c.(1819-1821)del	p.E611del	NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													9	593	---	---	---	---					
OR52E6	390078	broad.mit.edu	37	11	5862708	5862723	+	Frame_Shift_Del	DEL	GCTGGTGAGGATCATG	GCTGGTGAGGATCATG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:5862708_5862723delGCTGGTGAGGATCATG	ENST00000329322.5	-	1	404_419	c.405_420delCATGATCCTCACCAGC	c.(403-420)acfs	p.TMILTS135fs	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Frame_Shift_Del_p.TMILTS139fs	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T143T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGATTTTGCTGGTGAGGATCATGGTGTACCAAA	0.477													9	910	---	---	---	---					
NAV2	89797	broad.mit.edu	37	11	19955425	19955426	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:19955425_19955426insG	ENST00000396085.1	+	7	1996_1997	c.1635_1636insG	c.(1633-1638)aaggggfs	p.KG545fs	NAV2_ENST00000349880.4_Frame_Shift_Ins_p.KG545fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.KG481fs|NAV2_ENST00000396087.3_Frame_Shift_Ins_p.KG568fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.KG499fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.KG497fs	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	568						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCATCCCCAAAGGGGGGAAGCT	0.554													13	551	---	---	---	---					
TMEM5-AS1	0	broad.mit.edu	37	12	64205801	64205803	+	RNA	DEL	GAA	GAA	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:64205801_64205803delGAA	ENST00000546214.1	-	0	467																											acaaggagaggaagaggaagagg	0.498													5	11	---	---	---	---					
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:72094757delT	ENST00000266673.5	+	6	1587	c.993delT	c.(991-993)ggfs	p.G331fs		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	331						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433													8	1045	---	---	---	---					
DPPA3P2	0	broad.mit.edu	37	14	36841115	36841115	+	RNA	DEL	T	T	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:36841115delT	ENST00000557188.1	+	0	746																											TTCTTGCACCTTTTTTTCTTG	0.358													8	520	---	---	---	---					
ELMSAN1	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)del	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		GTAGGgctgcctgctgctgctgc	0.650													9	131	---	---	---	---					
IGHV3-48	0	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304																											TAGTATATGGTACTACTACTACT	0.502													7	1007	---	---	---	---					
IL4R	3566	broad.mit.edu	37	16	27373787	27373789	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:27373787_27373789delGAG	ENST00000395762.2	+	11	1373_1375	c.1114_1116delGAG	c.(1114-1116)del	p.E376del	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	376	Poly-Glu.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGTGGAGTGTGAGGAGGAGGAGG	0.591													8	288	---	---	---	---					
AC012322.1	0	broad.mit.edu	37	16	64294939	64294940	+	RNA	INS	-	-	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:64294939_64294940insT	ENST00000561657.1	-	0	584																											TATTTTCTTTCTTTTTTTTTAA	0.396													7	166	---	---	---	---					
ACD	65057	broad.mit.edu	37	16	67693646	67693648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:67693646_67693648delGCA	ENST00000219251.8	-	3	873_875	c.542_544delTGC	c.(541-546)cag>c	p.LQ181del	ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	184					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.L181delL(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCGCAGTCCTGCAGCAGCAGCAG	0.650													7	659	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89349640	89349641	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:89349640_89349641insT	ENST00000301030.4	-	9	3769_3770	c.3309_3310insA	c.(3307-3312)aaatgafs	p.*1104fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1104	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGTCATCTTTTTTTTCAG	0.465													8	881	---	---	---	---					
TCF25	22980	broad.mit.edu	37	16	89951019	89951020	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:89951019_89951020insA	ENST00000263346.8	+	3	440_441	c.384_385insA	c.(382-387)aaaaaafs	p.KK128fs	TCF25_ENST00000563406.1_3'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	128					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCCGGAAGAAGAAAAAAAAACA	0.446													8	148	---	---	---	---					
KDM6B	23135	broad.mit.edu	37	17	7750177	7750178	+	In_Frame_Ins	INS	-	-	ACC	rs61462443		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:7750177_7750178insACC	ENST00000254846.5	+	9	1141_1142	c.752_753insACC	c.(751-753)tcc>tACCcc	p.251_251S>YP	KDM6B_ENST00000448097.2_In_Frame_Ins_p.251_251S>YP	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	251	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ccaccaccattaccaccaccac	0.614													7	96	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27027202	27027204	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:27027202_27027204delAGC	ENST00000314616.6	+	34	4856_4858	c.4573_4575delAGC	c.(4573-4575)del	p.S1528del	SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1528	Poly-Ser.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCACCCCTAGCAGCAGCAGCA	0.537													15	1192	---	---	---	---					
KRTAP9-1	0	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgc>t	p.CG96del	KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	96	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606													10	100	---	---	---	---					
STAT5A	6776	broad.mit.edu	37	17	40444033	40444033	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:40444033delG	ENST00000345506.4	+	5	971	c.329delG	c.(328-330)cgfs	p.R110fs	STAT5A_ENST00000546010.2_Intron|STAT5A_ENST00000452307.2_Frame_Shift_Del_p.R110fs|STAT5A_ENST00000588868.1_Frame_Shift_Del_p.R110fs|STAT5A_ENST00000590949.1_Frame_Shift_Del_p.R110fs	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	110					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CGCTGCATCCGGCACATTCTG	0.562													11	318	---	---	---	---					
FTSJ3	117246	broad.mit.edu	37	17	61901501	61901503	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:61901501_61901503delTCC	ENST00000427159.2	-	12	1740_1742	c.1095_1097delGGA	c.(1093-1098)gaa>ga	p.EE365del		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	365					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GTTCAGTTGTtcctcctcctcct	0.562													7	802	---	---	---	---					
ADNP2	22850	broad.mit.edu	37	18	77894260	77894261	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr18:77894260_77894261insC	ENST00000262198.4	+	4	1419_1420	c.964_965insC	c.(964-966)cccfs	p.P322fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	322	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A325fs*59(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTCACTCATTCCCCCCCTGCT	0.644													9	374	---	---	---	---					
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:1037646delC	ENST00000263097.4	+	7	1040	c.677delC	c.(676-678)acfs	p.T226fs	CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	226					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCGGGACCCGGCGGCAC	0.632													7	783	---	---	---	---					
GTF2F1	2962	broad.mit.edu	37	19	6381791	6381793	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:6381791_6381793delCTT	ENST00000394456.5	-	7	1215_1217	c.751_753delAAG	c.(751-753)del	p.K251del	GTF2F1_ENST00000429701.2_In_Frame_Del_p.K166del	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	251					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CGTCTGAACCCTTCTTCTTCTTC	0.611													7	227	---	---	---	---					
COPE	11316	broad.mit.edu	37	19	19030139	19030140	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:19030139_19030140insG	ENST00000600932.1	-	1	49_50	c.18_19insC	c.(16-21)ccgcccfs	p.P7fs	AC002985.3_ENST00000596918.1_Intron|COPE_ENST00000262812.4_Frame_Shift_Ins_p.P7fs|COPE_ENST00000351079.4_Frame_Shift_Ins_p.P7fs|COPE_ENST00000349893.4_Frame_Shift_Ins_p.P7fs			O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	7					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	binding|structural molecule activity	p.P6P(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						GAGGCCGGGCCGGGGGCCGGAG	0.609													7	478	---	---	---	---					
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:35940788_35940790delCTG	ENST00000599180.1	+	2	252_254	c.172_174delCTG	c.(172-174)del	p.L62del	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645													8	231	---	---	---	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gat>ga	p.ED67del	TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													10	452	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs71769813		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)del	p.Q262del	MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591													11	198	---	---	---	---