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
DNAH7	56171	broad.mit.edu	37	2	196664038	196664038	+	Silent	SNP	T	T	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:196664038T>A	ENST00000312428.6	-	55	10435	c.10335A>T	c.(10333-10335)ctA>ctT	p.L3445L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3445	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3445L(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGCAAATTTTAGAAGGGCAG	0.408000													82	286					0	0	1	0	0
TREML3P	340206	broad.mit.edu	37	6	41185605	41185605	+	RNA	SNP	C	C	A	rs9349181	by1000genomes	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:41185605C>A	ENST00000564680.1	-	0	80																											ACCGACTTGGCGATGTCTGCT	0.498000													4	66					0.150653	0.150653	1	1	0
SPATA31D4	389761	broad.mit.edu	37	9	84547475	84547475	+	RNA	SNP	G	G	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr9:84547475G>C	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							AACTCTGAGAGAGACCTAGGA	0.473000													6	137					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176318466	176318466	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:176318466G>A	ENST00000292432.5	-	3	273	c.182C>T	c.(181-183)gCg>gTg	p.A61V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	61	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.A61V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCTCAGCGCCTGCTCCAT	0.612000													4	42					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr13:52864001A>G	ENST00000451298.1	-	0	168				RP11-64P12.8_ENST00000606031.1_RNA																							GAAAAAATAAAGCAATAGCTA	0.313000													5	48					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108076844	108076844	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:108076844A>G	ENST00000357759.5	+	6	1253	c.839A>G	c.(838-840)aAt>aGt	p.N280S	HHLA2_ENST00000489514.2_Missense_Mutation_p.N280S|HHLA2_ENST00000467761.1_Missense_Mutation_p.N280S|HHLA2_ENST00000491820.1_Missense_Mutation_p.N280S|HHLA2_ENST00000467562.1_Missense_Mutation_p.N216S	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	280	Ig-like V-type 2.					integral to membrane		p.N280S(2)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCCTCACAAAATACAATTATC	0.378000													15	359					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98742267	98742267	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:98742267G>A	ENST00000286067.2	+	1	1227	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	374								p.D374N(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGTCAGTGAAGATGTCATTTC	0.517000													7	79					0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	30008662	30008662	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:30008662A>G	ENST00000426154.1	-	2	198	c.22T>C	c.(22-24)Tac>Cac	p.Y8H	SCRN1_ENST00000242059.5_Missense_Mutation_p.Y8H|SCRN1_ENST00000409497.1_Missense_Mutation_p.Y8H|SCRN1_ENST00000409570.1_Missense_Mutation_p.Y8H|SCRN1_ENST00000494620.1_Intron	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	8					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.Y28H(2)|p.Y8H(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ACAAAACAGTAACTTGGAGGA	0.478000													37	47					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172847	78172847	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:78172847C>A	ENST00000369947.2	-	1	643	c.274G>T	c.(274-276)Gcg>Tcg	p.A92S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	92					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	p.A92S(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	TCGGTGACCGCCAGAGAGGCG	0.597000													13	43					1.99824e-07	2.14244e-07	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	9858028	9858028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr16:9858028C>A	ENST00000396573.2	-	14	3682	c.3373G>T	c.(3373-3375)Gag>Tag	p.E1125*	GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E968*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1125					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1125*(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAACCAGGCTCCTTCTCACCA	0.507000													28	315					1.80694e-10	1.95752e-10	1	1	0
SDF4	51150	broad.mit.edu	37	1	1159219	1159219	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:1159219G>A	ENST00000263741.7	-	3	748	c.456C>T	c.(454-456)gaC>gaT	p.D152D	SDF4_ENST00000545427.1_Silent_p.D152D|SDF4_ENST00000360001.6_Silent_p.D152D	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	152	EF-hand 2.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	p.D152D(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TACCGTCCCCGTCAGGGTCCA	0.697000													2	2					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													8	144					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	91					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99796183	99796183	+	Missense_Mutation	SNP	G	G	A	rs149765159		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:99796183G>A	ENST00000426455.1	+	13	1737	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	STAG3_ENST00000317296.5_Missense_Mutation_p.A444T|STAG3_ENST00000394018.2_Missense_Mutation_p.A386T|STAG3_ENST00000440830.1_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	444					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.A444T(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCTCTGCCGCAGGCGAATT	0.547000													19	89					0	0	1	0	0
TBC1D23	55773	broad.mit.edu	37	3	100009497	100009497	+	Silent	SNP	T	T	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:100009497T>G	ENST00000394144.4	+	5	559	c.552T>G	c.(550-552)tcT>tcG	p.S184S	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Silent_p.S47S|TBC1D23_ENST00000344949.5_Silent_p.S184S	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	184	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.S184S(2)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AGCTTTGTTCTTATCTTGATA	0.363000													10	82					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37619172	37619172	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr17:37619172C>T	ENST00000447079.4	+	1	881	c.848C>T	c.(847-849)tCg>tTg	p.S283L	CDK12_ENST00000430627.2_Missense_Mutation_p.S283L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	283					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.S283L(2)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAGGAGCCTTCGGCCTACCAG	0.552000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			7	52					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133943059	133943059	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:133943059C>T	ENST00000285928.2	+	19	2318	c.2249C>T	c.(2248-2250)cCg>cTg	p.P750L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	750							ATP binding|kinase activity	p.P750L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CGGTTCTGTCCGTGGTCAAAA	0.453000													14	163					0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186413131	186413131	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:186413131C>A	ENST00000391997.2	-	4	808	c.721G>T	c.(721-723)Gaa>Taa	p.E241*	PDC_ENST00000497198.1_Nonsense_Mutation_p.E189*|PDC_ENST00000456239.2_Nonsense_Mutation_p.E189*|PDC_ENST00000340129.5_Nonsense_Mutation_p.E241*	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	241					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	p.E241*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TCTTCTTCTTCTATTTTGGTA	0.353000													31	679					6.2361e-21	6.89952e-21	1	1	0
ZNF320	162967	broad.mit.edu	37	19	53367338	53367338	+	Missense_Mutation	SNP	G	G	A	rs4803014	by1000genomes	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:53367338G>A	ENST00000597909.1	-	6	534	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C				A2RRD8	ZN320_HUMAN	zinc finger protein 320	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGTATAAAGCGTTCTGTGCAG	0.448000													4	46					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204692	9204692	+	Missense_Mutation	SNP	G	G	A	rs144608760		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:9204692G>A	ENST00000429566.3	+	1	838	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V258I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CACCATTGGCGTCTATCTGTG	0.557000													33	166					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924778	70924778	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr14:70924778G>C	ENST00000603540.1	+	2	820	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	ADAM21_ENST00000267499.3_Missense_Mutation_p.E188Q|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	188					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.E188Q(4)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTTGGAATTTGAAGAGGCTGA	0.438000													12	95					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141072616	141072616	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:141072616C>G	ENST00000389484.3	-	83	13664	c.12693G>C	c.(12691-12693)gaG>gaC	p.E4231D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4231	EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E4231D(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCACCTTTCTCATTTAAAA	0.383000										TSP Lung(27;0.18)			10	175					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363240	21363240	+	RNA	SNP	C	C	T	rs4820722	by1000genomes	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr22:21363240C>T	ENST00000452284.1	+	0	907				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NR_027051.1																						TGGCTCGAAGCGGGCACTGGC	0.587000													7	65					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100532564	100532564	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:100532564T>C	ENST00000457717.1	+	15	2199	c.1943T>C	c.(1942-1944)cTg>cCg	p.L648P	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.L648P|MTTP_ENST00000511045.1_Missense_Mutation_p.L675P	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	648	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.L648P(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGAAGTAACCTGAACATCTTT	0.433000													75	149					0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93851587	93851587	+	Splice_Site	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:93851587C>T	ENST00000412050.4	-	8	1733	c.1645_splice	c.e8+1	p.V549_splice	CPEB3_ENST00000265997.4_Splice_Site_p.V563_splice	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	563	RRM 2.						nucleotide binding|RNA binding	p.V563I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TTCCACTCACCAGCTCGAAGG	0.418000													4	66					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151260444	151260444	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:151260444C>G	ENST00000368879.2	+	2	1775	c.1677C>G	c.(1675-1677)atC>atG	p.I559M		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.I559M(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCATGCGCATCGAGGTCACCT	0.627000													21	25					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125647387	125647387	+	RNA	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:125647387G>A	ENST00000485843.1	+	0	532					NR_024251.1																						ACCAGAAACTGTTTCCCTATG	0.502000													10	156					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2290333	2290333	+	Missense_Mutation	SNP	C	C	A	rs214803	byFrequency	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr20:2290333C>A	ENST00000381458.5	+	2	101	c.38C>A	c.(37-39)aCg>aAg	p.T13K		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	13			T -> K (in dbSNP:rs214803).		cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T13M(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	AACTGGCAGACGGCCTTCAAC	0.522000													7	162					5.18039e-06	5.44203e-06	1	1	0
PPP1R10	5514	broad.mit.edu	37	6	30574350	30574350	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:30574350C>G	ENST00000376511.2	-	8	1081	c.529G>C	c.(529-531)Gag>Cag	p.E177Q		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	177	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	p.E177Q(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTTCACCTCTGTCAAAGGT	0.488000													8	120					0	0	1	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581384	234581384	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:234581384C>T	ENST00000354728.4	+	1	886	c.804C>T	c.(802-804)aaC>aaT	p.N268N	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		TGATGCCCAACATGATCTTCA	0.438000													26	846					0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127785935	127785935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:127785935C>T	ENST00000243253.3	+	9	1100	c.916C>T	c.(916-918)Caa>Taa	p.Q306*	RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000424880.2_Nonsense_Mutation_p.Q186*|SEC61A1_ENST00000464451.1_Nonsense_Mutation_p.Q312*|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	306					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	p.Q306*(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGTCATCTCCCAAATGCTCTC	0.527000													22	78					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48607875	48607875	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:48607875G>A	ENST00000354276.3	-	4	554	c.227C>T	c.(226-228)aCg>aTg	p.T76M	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.T76M|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.T86M|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.T76M	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	76	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.T76M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGCGAGGTACGTGACGGCATC	0.522000													4	61					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100466570	100466570	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:100466570G>A	ENST00000279907.7	-	12	1641	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.R477C|UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R127C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	477								p.R477C(4)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GGGGAAGAACGACATTGTTCC	0.343000													45	182					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204410669	204410669	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:204410669T>C	ENST00000367187.3	-	22	3735	c.3179A>G	c.(3178-3180)aAt>aGt	p.N1060S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.N1032S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1060					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.N1060S(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGGACAGCATTGGAGTTGAA	0.507000													16	79					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84270599	84270599	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:84270599C>G	ENST00000428679.2	-	27	3103	c.2510G>C	c.(2509-2511)gGa>gCa	p.G837A	SNAP91_ENST00000195649.6_Missense_Mutation_p.G832A|SNAP91_ENST00000437520.1_Missense_Mutation_p.G530A|SNAP91_ENST00000439399.2_Missense_Mutation_p.G837A|SNAP91_ENST00000521485.1_Missense_Mutation_p.G832A|SNAP91_ENST00000521743.1_Missense_Mutation_p.G837A|SNAP91_ENST00000520302.1_Missense_Mutation_p.G807A|SNAP91_ENST00000520213.1_Missense_Mutation_p.G530A|SNAP91_ENST00000369694.2_Missense_Mutation_p.G837A			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	837	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	p.G837A(4)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAATCCTGCTCCAGGTTGTCC	0.418000													15	117					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125647396	125647396	+	RNA	SNP	T	T	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:125647396T>C	ENST00000485843.1	+	0	541					NR_024251.1																						TGTTTCCCTATGAAGAGCACT	0.502000													10	155					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120209616	120209616	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:120209616G>C	ENST00000019103.5	-	9	1158	c.891C>G	c.(889-891)atC>atG	p.I297M		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	297					digestion|excretion	integral to plasma membrane	secretin receptor activity	p.I297M(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GACCACGAATGATCCACCAGA	0.597000													8	31					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1238077	1238077	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:1238077A>C	ENST00000324642.3	+	5	757	c.634A>C	c.(634-636)Aca>Cca	p.T212P	SLC6A18_ENST00000296821.4_Missense_Mutation_p.T212P	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	212					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATTTACTTCACAGCTTTGTT	0.512000													10	29					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10401606	10401606	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:10401606G>A	ENST00000397077.1	-	12	2301	c.1726C>T	c.(1726-1728)Cgc>Tgc	p.R576C	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R576C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R621C|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R621C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R607C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	621					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.R576C(2)|p.R621C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGTACATGCGGAAGCTCTCG	0.597000													62	54					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70837459	70837459	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:70837459A>C	ENST00000358731.4	+	29	6464	c.6201A>C	c.(6199-6201)agA>agC	p.R2067S	BDP1_ENST00000380675.2_Missense_Mutation_p.R203S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2067					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.R2067S(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAGTTCCAGAGAAGAAATAA	0.313000													9	37					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246594	46246594	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:46246594G>C	ENST00000334344.6	+	15	4860	c.4688G>C	c.(4687-4689)aGc>aCc	p.S1563T	ARID2_ENST00000422737.1_Missense_Mutation_p.S1414T|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.S1173T|ARID2_ENST00000457135.1_Missense_Mutation_p.S171T	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1563					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S1563T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAGATCCAAGCACTGTAGCT	0.448000			"""N, S, F"""		hepatocellular carcinoma								7	120					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	88					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20322542	20322542	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr20:20322542C>T	ENST00000245957.5	+	26	3566	c.3490C>T	c.(3490-3492)Cgc>Tgc	p.R1164C	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1164								p.R1164C(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GAAAGAGTTACGCCAAATCTT	0.443000													4	22					0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975184	31975184	+	RNA	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:31975184G>A	ENST00000342991.6	+	0	1307					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CCTGATCGGTGGCACTGAGAC	0.602000													4	38					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	957721	957721	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:957721C>T	ENST00000379370.2	+	2	392	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	114	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.I114I(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACACCAGGATCTTCTTTGTGA	0.612000													3	8					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70704789	70704789	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:70704789G>A	ENST00000229195.3	+	3	742	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	CNOT2_ENST00000418359.3_Missense_Mutation_p.E55K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	55					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	p.E55K(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ACATCGGTCAGAAAAAGATGT	0.393000													15	228					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56895604	56895604	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:56895604G>A	ENST00000301310.4	-	5	1340	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	ZNF582_ENST00000586929.1_Silent_p.P394P	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P394P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TACATTGGTAGGGTTTCTCTC	0.423000													7	137					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146126568	146126568	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:146126568G>A	ENST00000237281.4	-	2	1140	c.974C>T	c.(973-975)tCa>tTa	p.S325L		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	325							ubiquitin-protein ligase activity|zinc ion binding	p.S325L(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GGAAGGTTTTGAAGTGCCATC	0.428000													70	132					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75115013	75115013	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr15:75115013G>A	ENST00000309664.5	+	11	1301	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	LMAN1L_ENST00000379709.3_Missense_Mutation_p.G376R|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	388						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.G388R(2)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGCTCCATGGACAGTGGAC	0.607000													6	21					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155932776	155932776	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:155932776C>A	ENST00000368316.1	-	12	1309	c.839G>T	c.(838-840)gGc>gTc	p.G280V	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.G309V|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.G308V|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.G307V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.G280V			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	308	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.G280V(2)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCGGGTGCTGCCAGGGCACAG	0.597000													14	36					7.93312e-07	8.41882e-07	1	1	0
COG5	10466	broad.mit.edu	37	7	107013191	107013191	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:107013191G>A	ENST00000393603.2	-	8	1048	c.777C>T	c.(775-777)gtC>gtT	p.V259V	COG5_ENST00000297135.3_Silent_p.V259V|COG5_ENST00000475638.2_5'UTR|COG5_ENST00000347053.3_Silent_p.V259V	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	259					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.V259V(2)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GAGCTGTTCCGACTTGAGTTG	0.343000													17	64					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15697389	15697389	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:15697389C>A	ENST00000378076.3	-	11	1318	c.965G>T	c.(964-966)gGa>gTa	p.G322V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	322					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G322V(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AACGGTATATCCAAAATAAGA	0.318000													38	220					1.4374e-25	1.60741e-25	1	1	0
GATA3	2625	broad.mit.edu	37	10	8106012	8106012	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:8106012G>A	ENST00000379328.3	+	4	1403	c.835G>A	c.(835-837)Ggc>Agc	p.G279S	GATA3_ENST00000461472.1_Intron|GATA3_ENST00000346208.3_Missense_Mutation_p.G278S	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	278					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.G279S(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCGGCGAGATGGCACGGGACA	0.557000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						8	32					0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3599647	3599647	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:3599647A>C	ENST00000378295.4	+	3	244	c.89A>C	c.(88-90)gAc>gCc	p.D30A	TP73_ENST00000354437.4_Missense_Mutation_p.D30A|TP73_ENST00000603362.1_Missense_Mutation_p.D30A|TP73_ENST00000346387.4_Missense_Mutation_p.D30A|TP73_ENST00000357733.3_Missense_Mutation_p.D30A|TP73_ENST00000604479.1_Missense_Mutation_p.D30A|TP73_ENST00000604074.1_Missense_Mutation_p.D30A	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	30	Asp/Glu-rich (acidic).|Transactivation (By similarity).				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	p.D30A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ACCTACTTCGACCTTCCCCAG	0.582000													2	5					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996932	20996932	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr16:20996932C>G	ENST00000261383.3	-	48	7131	c.7132G>C	c.(7132-7134)Gag>Cag	p.E2378Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2378					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E2378Q(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAGTGATCTCATCGTAGATT	0.443000													9	219					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25010819	25010819	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr22:25010819C>G	ENST00000400382.1	+	6	996	c.241C>G	c.(241-243)Cac>Gac	p.H81D	GGT1_ENST00000406383.2_Missense_Mutation_p.H81D|GGT1_ENST00000400380.1_Missense_Mutation_p.H81D|GGT1_ENST00000400383.1_Missense_Mutation_p.H81D|GGT1_ENST00000248923.4_Missense_Mutation_p.H81D			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	81					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	p.H81D(2)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CATGAATGCCCACAGCATGGG	0.622000													9	22					0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40778294	40778294	+	Silent	SNP	G	G	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr21:40778294G>T	ENST00000358268.2	-	10	2055	c.1527C>A	c.(1525-1527)ggC>ggA	p.G509G	LCA5L_ENST00000380671.2_Silent_p.G509G|LCA5L_ENST00000288350.3_Silent_p.G509G|LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	509								p.G509G(4)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				AGGGAGCAGTGCCTTTGCCAA	0.453000													7	42					8.12818e-05	8.36962e-05	1	1	0
SRPK3	26576	broad.mit.edu	37	X	153046993	153046993	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chrX:153046993T>G	ENST00000489426.1	+	9	2791	c.425T>G	c.(424-426)tTc>tGc	p.F142C	SRPK3_ENST00000393786.3_Missense_Mutation_p.F75C|SRPK3_ENST00000370108.3_Missense_Mutation_p.F75C|SRPK3_ENST00000370100.1_Missense_Mutation_p.F33C|SRPK3_ENST00000370101.3_Missense_Mutation_p.F75C|SRPK3_ENST00000370104.1_Missense_Mutation_p.F75C			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	75	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGACGTGTTCAATGGGCGG	0.657000													2	0					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071617	53071617	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr8:53071617G>A	ENST00000276480.7	-	15	2330	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	549						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G549G(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGTGTGGGCGCCTGCACTAG	0.483000													42	109					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076005	49076005	+	Splice_Site	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr13:49076005C>T	ENST00000344532.3	-	12	1541		c.e12-1		RCBTB2_ENST00000430805.2_Splice_Site|RCBTB2_ENST00000544492.1_Splice_Site	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2								Ran guanyl-nucleotide exchange factor activity	p.?(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TCATCAGGTTCTAGGAGAATA	0.433000													7	55					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91449666	91449666	+	Silent	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr15:91449666C>G	ENST00000360468.3	+	5	792	c.774C>G	c.(772-774)tcC>tcG	p.S258S	MAN2A2_ENST00000559717.1_Silent_p.S258S	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	258					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.S258S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGGCCAATTCCCACTACTTTG	0.572000													10	23					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160139521	160139521	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:160139521G>A	ENST00000409990.3	-	2	316	c.60C>T	c.(58-60)ttC>ttT	p.F20F	WDSUB1_ENST00000409124.1_Silent_p.F20F|WDSUB1_ENST00000359774.4_Silent_p.F20F|WDSUB1_ENST00000392796.3_Silent_p.F20F|WDSUB1_ENST00000358147.4_Silent_p.F20F	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	20						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.F20F(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GGGAAAAGGAGAAGGCACAGC	0.408000													8	193					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167850949	167850949	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:167850949C>T	ENST00000265293.4	+	11	2188	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	WWC1_ENST00000521089.1_Silent_p.L562L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	562					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.L562L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ATGCCTTCCTCAACTCCTTGG	0.587000													12	66					0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68802078	68802078	+	Silent	SNP	G	G	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:68802078G>C	ENST00000295569.7	-	4	714	c.222C>G	c.(220-222)gtC>gtG	p.V74V		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	74						extracellular region		p.V74V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AAGAGCACTTGACCGTTTGTG	0.537000													9	180					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364346	5364346	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:5364346T>A	ENST00000300773.2	-	1	463	c.409A>T	c.(409-411)Act>Tct	p.T137S	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T137S(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTACTCGAGTATTAGTAAGT	0.458000													39	102					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241531406	241531406	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:241531406A>C	ENST00000391984.2	+	4	723	c.527A>C	c.(526-528)gAc>gCc	p.D176A	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.D176A|CAPN10_ENST00000404753.3_Missense_Mutation_p.D176A|CAPN10_ENST00000391982.2_Missense_Mutation_p.D176A	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	176	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	p.D176A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GCCCTGGTGGACCTGACCGGC	0.657000													2	4					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32207725	32207725	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:32207725G>A	ENST00000373658.3	-	8	1687	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V	BAI2_ENST00000398542.1_Missense_Mutation_p.A382V|BAI2_ENST00000398547.1_Missense_Mutation_p.A382V|BAI2_ENST00000527361.1_Missense_Mutation_p.A449V|BAI2_ENST00000373655.2_Missense_Mutation_p.A449V|BAI2_ENST00000398538.1_Missense_Mutation_p.A437V|BAI2_ENST00000398556.3_Missense_Mutation_p.A397V|BAI2_ENST00000257070.4_Missense_Mutation_p.A449V|BAI2_ENST00000440175.2_Missense_Mutation_p.A91V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	449	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A449V(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGCTGGGCCCGCCACGCTGCA	0.657000													6	7					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41224584	41224584	+	Silent	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr15:41224584C>A	ENST00000249749.5	+	6	1065	c.789C>A	c.(787-789)acC>acA	p.T263T		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	263	EGF-like 2.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	p.T263T(1)		breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCACGGCACCTGCAGCACTC	0.612000													3	4					0.000602214	0.000608061	1	1	0
MTMR4	9110	broad.mit.edu	37	17	56573109	56573109	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr17:56573109C>A	ENST00000323456.5	-	16	2518	c.2394G>T	c.(2392-2394)atG>atT	p.M798I	MTMR4_ENST00000579925.1_Missense_Mutation_p.M741I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	798						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.M798I(2)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCACACCTAGCATGGAGTCTG	0.527000													11	78					0.000219431	0.000223734	1	1	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								14	24					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64124622	64124622	+	Missense_Mutation	SNP	G	G	A	rs61886888	by1000genomes	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:64124622G>A	ENST00000359902.2	+	14	1951	c.1801G>A	c.(1801-1803)Gga>Aga	p.G601R	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_3'UTR|CCDC88B_ENST00000356786.5_3'UTR			A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1424					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGTGTCAGCGGAGGCCCCAG	0.667000													2	6					0	0	1	0	0
GPM6B	2824	broad.mit.edu	37	X	13825830	13825830	+	Missense_Mutation	SNP	C	C	G	rs150832725	byFrequency	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chrX:13825830C>G	ENST00000316715.4	-	2	557	c.120G>C	c.(118-120)aaG>aaC	p.K40N	GPM6B_ENST00000493677.1_Missense_Mutation_p.K14N|GPM6B_ENST00000398361.3_Intron|GPM6B_ENST00000356942.5_Intron|GPM6B_ENST00000454189.2_Intron|GPM6B_ENST00000355135.2_Missense_Mutation_p.K40N	NM_001001995.1	NP_001001995.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	20					cell differentiation|nervous system development	integral to membrane		p.K40N(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						ACTGGTGGTTCTTTGAGCCTG	0.512000													12	83					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871633	15871633	+	RNA	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:15871633C>T	ENST00000595525.1	+	0	449				CYP4F24P_ENST00000587443.2_RNA																							ACCTGGGTCCCGCAGAGAAGG	0.552000													19	92					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640578	104640578	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:104640578G>A	ENST00000304883.2	-	1	395	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	85						integral to plasma membrane	tachykinin receptor activity	p.I85I(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACCAGAGCGCGATGCGCCAGG	0.647000													23	192					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801620	140801620	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:140801620G>A	ENST00000398587.2	+	1	859	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G276R|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.G276R(2)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAATCAACGGGGAAGTAAT	0.463000													21	103					0	0	1	0	0
CCT4	10575	broad.mit.edu	37	2	62104098	62104098	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:62104098T>G	ENST00000394440.3	-	7	1030	c.734A>C	c.(733-735)aAg>aCg	p.K245T	CCT4_ENST00000461540.2_5'UTR|CCT4_ENST00000544185.1_Missense_Mutation_p.K95T|CCT4_ENST00000538252.1_Missense_Mutation_p.K189T|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Missense_Mutation_p.K215T	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	245					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	p.K245T(2)		breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			AAGCCCAATCTTGGCCTTTTC	0.398000													20	102					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133764129	133764129	+	Nonsense_Mutation	SNP	G	G	T	rs75943312		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr8:133764129G>T	ENST00000356838.3	-	4	358	c.216C>A	c.(214-216)taC>taA	p.Y72*	TMEM71_ENST00000377901.4_Nonsense_Mutation_p.Y72*|TMEM71_ENST00000523829.1_Nonsense_Mutation_p.Y72*|TMEM71_ENST00000517538.1_5'UTR	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	72						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCCAAATATAGTAGCCATTGG	0.488000													5	220					2.17888e-05	2.39676e-05	0.006214	1	0
DNAH7	56171	broad.mit.edu	37	2	196664038	196664038	+	Silent	SNP	T	T	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:196664038T>A	ENST00000312428.6	-	55	10435	c.10335A>T	c.(10333-10335)ctA>ctT	p.L3445L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3445	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3445L(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGCAAATTTTAGAAGGGCAG	0.408000													53	244					0	0	0.014410	0	0
C16orf58	64755	broad.mit.edu	37	16	31502203	31502203	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr16:31502203C>G	ENST00000327237.2	-	13	1399	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	C16orf58_ENST00000567994.1_Missense_Mutation_p.E409Q|C16orf58_ENST00000570164.1_Missense_Mutation_p.E452Q			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	454						integral to membrane		p.E454Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GCCCTCCACTCATCCACCTCT	0.607000													9	181					0	0	0.006214	0	0
MYL2	4633	broad.mit.edu	37	12	111352074	111352074	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:111352074C>T	ENST00000228841.8	-	4	237	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	MYL2_ENST00000548438.1_Missense_Mutation_p.E50K	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	64					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	p.E64K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TCAATTTCTTCATTTTTCACG	0.468000													9	90					0	0	0.004482	0	0
LCTL	197021	broad.mit.edu	37	15	66850095	66850095	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr15:66850095G>A	ENST00000341509.5	-	8	1018	c.887C>T	c.(886-888)gCc>gTc	p.A296V	LCTL_ENST00000537670.1_Missense_Mutation_p.A123V	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	296					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAGTCACCGGCATAAATGGG	0.507000													5	297					0	0	0.000602	0	0
RHBDL1	9028	broad.mit.edu	37	16	726739	726739	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr16:726739A>G	ENST00000219551.2	+	2	491	c.464A>G	c.(463-465)gAc>gGc	p.D155G	RHBDL1_ENST00000352681.3_Missense_Mutation_p.D90G			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	155					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	p.D155G(1)		endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CTGCCCCGGGACGGGCCGCTG	0.647000													31	141					0	0	0.003755	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412632	105412632	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr14:105412632G>A	ENST00000333244.5	-	7	9275	c.9156C>T	c.(9154-9156)ccC>ccT	p.P3052P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3052						nucleus		p.P3052P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTCCCTCGGGAACGTGGC	0.607000													31	206					0	0	0.010818	0	0
HHLA2	11148	broad.mit.edu	37	3	108076844	108076844	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:108076844A>G	ENST00000357759.5	+	6	1253	c.839A>G	c.(838-840)aAt>aGt	p.N280S	HHLA2_ENST00000489514.2_Missense_Mutation_p.N280S|HHLA2_ENST00000467761.1_Missense_Mutation_p.N280S|HHLA2_ENST00000491820.1_Missense_Mutation_p.N280S|HHLA2_ENST00000467562.1_Missense_Mutation_p.N216S	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	280	Ig-like V-type 2.					integral to membrane		p.N280S(2)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCCTCACAAAATACAATTATC	0.378000													7	219					0	0	0.004482	0	0
TLR4	7099	broad.mit.edu	37	9	120475310	120475310	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr9:120475310G>C	ENST00000355622.6	+	3	1005	c.904G>C	c.(904-906)Gac>Cac	p.D302H	TLR4_ENST00000394487.4_Missense_Mutation_p.D262H|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	302					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGATATTATTGACTTATTTAA	0.348000													8	162					0	0	0.003080	0	0
C10orf12	26148	broad.mit.edu	37	10	98742267	98742267	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:98742267G>A	ENST00000286067.2	+	1	1227	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	374								p.D374N(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGTCAGTGAAGATGTCATTTC	0.517000													20	225					0	0	0.008871	0	0
SCRN1	9805	broad.mit.edu	37	7	30008662	30008662	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:30008662A>G	ENST00000426154.1	-	2	198	c.22T>C	c.(22-24)Tac>Cac	p.Y8H	SCRN1_ENST00000242059.5_Missense_Mutation_p.Y8H|SCRN1_ENST00000409497.1_Missense_Mutation_p.Y8H|SCRN1_ENST00000494620.1_Intron|SCRN1_ENST00000409570.1_Missense_Mutation_p.Y8H	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	8					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.Y28H(2)|p.Y8H(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ACAAAACAGTAACTTGGAGGA	0.478000													22	38					0	0	0.012319	0	0
HTR1B	3351	broad.mit.edu	37	6	78172847	78172847	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:78172847C>A	ENST00000369947.2	-	1	643	c.274G>T	c.(274-276)Gcg>Tcg	p.A92S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	92					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	p.A92S(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	TCGGTGACCGCCAGAGAGGCG	0.597000													55	243					7.36392e-32	9.07794e-32	0.014410	1	0
GRIN2A	2903	broad.mit.edu	37	16	9858028	9858028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr16:9858028C>A	ENST00000396573.2	-	14	3682	c.3373G>T	c.(3373-3375)Gag>Tag	p.E1125*	GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E968*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1125*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1125					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1125*(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAACCAGGCTCCTTCTCACCA	0.507000													33	370					1.42033e-22	1.69256e-22	0.004289	1	0
SDF4	51150	broad.mit.edu	37	1	1159219	1159219	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:1159219G>A	ENST00000263741.7	-	3	748	c.456C>T	c.(454-456)gaC>gaT	p.D152D	SDF4_ENST00000545427.1_Silent_p.D152D|SDF4_ENST00000360001.6_Silent_p.D152D	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	152	EF-hand 2.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	p.D152D(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TACCGTCCCCGTCAGGGTCCA	0.697000													7	22					0	0	0.001984	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	99					0	0	0.009096	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	101					0	0	0.000602	0	0
STAG3	10734	broad.mit.edu	37	7	99796183	99796183	+	Missense_Mutation	SNP	G	G	A	rs149765159		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:99796183G>A	ENST00000426455.1	+	13	1737	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.A386T|STAG3_ENST00000317296.5_Missense_Mutation_p.A444T			Q9UJ98	STAG3_HUMAN	stromal antigen 3	444					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.A444T(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCTCTGCCGCAGGCGAATT	0.547000													30	159					0	0	0.006320	0	0
TBC1D23	55773	broad.mit.edu	37	3	100009497	100009497	+	Silent	SNP	T	T	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:100009497T>G	ENST00000394144.4	+	5	559	c.552T>G	c.(550-552)tcT>tcG	p.S184S	TBC1D23_ENST00000344949.5_Silent_p.S184S|TBC1D23_ENST00000475134.1_Silent_p.S47S|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	184	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.S184S(2)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AGCTTTGTTCTTATCTTGATA	0.363000													6	113					0	0	0.001168	0	0
CDK12	51755	broad.mit.edu	37	17	37619172	37619172	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr17:37619172C>T	ENST00000447079.4	+	1	881	c.848C>T	c.(847-849)tCg>tTg	p.S283L	CDK12_ENST00000430627.2_Missense_Mutation_p.S283L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	283					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.S283L(2)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAGGAGCCTTCGGCCTACCAG	0.552000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			13	149					0	0	0.002450	0	0
LRGUK	136332	broad.mit.edu	37	7	133943059	133943059	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:133943059C>T	ENST00000285928.2	+	19	2318	c.2249C>T	c.(2248-2250)cCg>cTg	p.P750L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	750							ATP binding|kinase activity	p.P750L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CGGTTCTGTCCGTGGTCAAAA	0.453000													11	153					0	0	0.013537	0	0
PDC	5132	broad.mit.edu	37	1	186413131	186413131	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:186413131C>A	ENST00000391997.2	-	4	808	c.721G>T	c.(721-723)Gaa>Taa	p.E241*	PDC_ENST00000497198.1_Nonsense_Mutation_p.E189*|PDC_ENST00000456239.2_Nonsense_Mutation_p.E189*|PDC_ENST00000340129.5_Nonsense_Mutation_p.E241*	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	241					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	p.E241*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TCTTCTTCTTCTATTTTGGTA	0.353000													8	221					0.000157383	0.0001718	0.003080	1	0
ADAM21	8747	broad.mit.edu	37	14	70924778	70924778	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr14:70924778G>C	ENST00000603540.1	+	2	820	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.E188Q	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	188					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.E188Q(4)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTTGGAATTTGAAGAGGCTGA	0.438000													13	124					0	0	0.001855	0	0
LRP1B	53353	broad.mit.edu	37	2	141072616	141072616	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:141072616C>G	ENST00000389484.3	-	83	13664	c.12693G>C	c.(12691-12693)gaG>gaC	p.E4231D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4231	EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E4231D(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCACCTTTCTCATTTAAAA	0.383000										TSP Lung(27;0.18)			6	110					0	0	0.001168	0	0
FAM47C	442444	broad.mit.edu	37	X	37028695	37028695	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chrX:37028695C>G	ENST00000358047.3	+	1	2264	c.2212C>G	c.(2212-2214)Ctc>Gtc	p.L738V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	738								p.L738V(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTGTCCCATCTCCGCCCAGA	0.632000													6	79					0	0	0.001984	0	0
GGT1	2678	broad.mit.edu	37	22	25010819	25010819	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr22:25010819C>G	ENST00000400382.1	+	6	996	c.241C>G	c.(241-243)Cac>Gac	p.H81D	GGT1_ENST00000248923.4_Missense_Mutation_p.H81D|GGT1_ENST00000400380.1_Missense_Mutation_p.H81D|GGT1_ENST00000400383.1_Missense_Mutation_p.H81D|GGT1_ENST00000406383.2_Missense_Mutation_p.H81D			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	81					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	p.H81D(2)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CATGAATGCCCACAGCATGGG	0.622000													12	109					0	0	0.013537	0	0
MTTP	4547	broad.mit.edu	37	4	100532564	100532564	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:100532564T>C	ENST00000457717.1	+	15	2199	c.1943T>C	c.(1942-1944)cTg>cCg	p.L648P	MTTP_ENST00000265517.5_Missense_Mutation_p.L648P|MTTP_ENST00000511045.1_Missense_Mutation_p.L675P|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	648	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.L648P(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGAAGTAACCTGAACATCTTT	0.433000													104	185					0	0	0.014410	0	0
EZR	7430	broad.mit.edu	37	6	159191862	159191862	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:159191862G>A	ENST00000367075.3	-	10	1192	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	EZR_ENST00000392177.4_Missense_Mutation_p.R310C|EZR_ENST00000337147.7_Missense_Mutation_p.R342C	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	342	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCCTTCTCGCGCATCATCTGC	0.542000			T	ROS1	NSCLC								4	145					0	0	0.000602	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:140181071G>C	ENST00000522353.2	+	1	289	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.G97R(2)|p.G97W(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTGTGCGGGCGGAGCGC	0.557000													7	382					0	0	0.001984	0	0
SMARCA4	6597	broad.mit.edu	37	19	11132627	11132627	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:11132627C>T	ENST00000358026.2	+	19	3127	c.2843C>T	c.(2842-2844)gCc>gTc	p.A948V	SMARCA4_ENST00000429416.3_Missense_Mutation_p.A948V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A948V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A948V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A948V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A948V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A948V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A948V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A948V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	948					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCACCCTTTGCCATGACCGGG	0.587000			"""F, N, Mis"""		NSCLC								4	132					0	0	0.009096	0	0
PPP1R10	5514	broad.mit.edu	37	6	30574350	30574350	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:30574350C>G	ENST00000376511.2	-	8	1081	c.529G>C	c.(529-531)Gag>Cag	p.E177Q		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	177	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	p.E177Q(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTTCACCTCTGTCAAAGGT	0.488000													11	171					0	0	0.008291	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	100					0	0	0.009096	0	0
SEC61A1	29927	broad.mit.edu	37	3	127785935	127785935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:127785935C>T	ENST00000243253.3	+	9	1100	c.916C>T	c.(916-918)Caa>Taa	p.Q306*	RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000424880.2_Nonsense_Mutation_p.Q186*|SEC61A1_ENST00000464451.1_Nonsense_Mutation_p.Q312*	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	306					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	p.Q306*(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGTCATCTCCCAAATGCTCTC	0.527000													60	206					0	0	0.014410	0	0
ATP2B2	491	broad.mit.edu	37	3	10401606	10401606	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:10401606G>A	ENST00000397077.1	-	12	2301	c.1726C>T	c.(1726-1728)Cgc>Tgc	p.R576C	ATP2B2_ENST00000352432.4_Missense_Mutation_p.R621C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R607C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R576C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R621C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	621					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.R576C(2)|p.R621C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGTACATGCGGAAGCTCTCG	0.597000													64	117					0	0	0.014410	0	0
TULP3	7289	broad.mit.edu	37	12	3047432	3047432	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:3047432G>A	ENST00000448120.2	+	10	1227	c.1176G>A	c.(1174-1176)caG>caA	p.Q392Q	TULP3_ENST00000397132.2_Silent_p.Q392Q	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	392					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	p.Q392Q(1)		endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGAACTTCCAGATAGTCCACA	0.532000													5	123					0	0	0.001984	0	0
NOL9	79707	broad.mit.edu	37	1	6610657	6610657	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:6610657T>A	ENST00000377705.5	-	2	447	c.415A>T	c.(415-417)Atc>Ttc	p.I139F		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	139					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	p.I139F(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ACACGACAGATCCCACTAAAA	0.403000													15	108					0	0	0.002450	0	0
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr17:21730847G>T	ENST00000584755.1	+	2	546	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522000													3	49					0.004672	0.00498579	0.004672	1	0
FBXO30	84085	broad.mit.edu	37	6	146126568	146126568	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:146126568G>A	ENST00000237281.4	-	2	1140	c.974C>T	c.(973-975)tCa>tTa	p.S325L		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	325							ubiquitin-protein ligase activity|zinc ion binding	p.S325L(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GGAAGGTTTTGAAGTGCCATC	0.428000													34	90					0	0	0.012213	0	0
HEY1	23462	broad.mit.edu	37	8	80677881	80677881	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr8:80677881G>A	ENST00000337919.5	-	5	662	c.469C>T	c.(469-471)Cga>Tga	p.R157*	HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000354724.3_Nonsense_Mutation_p.R153*|HEY1_ENST00000523976.1_Nonsense_Mutation_p.R63*	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	153	Orange.				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R157*(1)|p.R153*(1)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GAAACCAGTCGAACTCGAAGC	0.582000			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	137					0	0	0.004482	0	0
MST1L	11223	broad.mit.edu	37	1	17084768	17084768	+	RNA	SNP	G	G	C	rs151331911	by1000genomes	TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:17084768G>C	ENST00000455405.2	-	0	248																											TAGAGACCCCGCGCAGAAATG	0.572000													3	32					0	0	0.009096	0	0
SF1	7536	broad.mit.edu	37	11	64534716	64534716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:64534716G>T	ENST00000377390.3	-	11	1687	c.1350C>A	c.(1348-1350)taC>taA	p.Y450*	SF1_ENST00000227503.9_Nonsense_Mutation_p.Y450*|SF1_ENST00000377394.3_Missense_Mutation_p.P452T|SF1_ENST00000377387.1_Nonsense_Mutation_p.Y575*|SF1_ENST00000422298.2_Nonsense_Mutation_p.Y335*|SF1_ENST00000433274.2_Nonsense_Mutation_p.Y424*|SF1_ENST00000334944.5_Nonsense_Mutation_p.Y450*	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	450	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	p.Y450*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TACTTCCCAGGTACTGATCTT	0.542000											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	140					2.48696e-23	2.98853e-23	0.003271	1	0
VAV2	7410	broad.mit.edu	37	9	136671295	136671295	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr9:136671295G>A	ENST00000371851.1	-	8	1054	c.729C>T	c.(727-729)atC>atT	p.I243I	VAV2_ENST00000406606.3_Silent_p.I243I|VAV2_ENST00000371850.3_Silent_p.I248I			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	248	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	p.I243I(1)|p.I248I(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GATGCACCTTGATCAGGTCCT	0.592000													4	35					0	0	0.009096	0	0
SNAP91	9892	broad.mit.edu	37	6	84270599	84270599	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:84270599C>G	ENST00000428679.2	-	27	3103	c.2510G>C	c.(2509-2511)gGa>gCa	p.G837A	SNAP91_ENST00000521485.1_Missense_Mutation_p.G832A|SNAP91_ENST00000520213.1_Missense_Mutation_p.G530A|SNAP91_ENST00000520302.1_Missense_Mutation_p.G807A|SNAP91_ENST00000195649.6_Missense_Mutation_p.G832A|SNAP91_ENST00000369694.2_Missense_Mutation_p.G837A|SNAP91_ENST00000439399.2_Missense_Mutation_p.G837A|SNAP91_ENST00000521743.1_Missense_Mutation_p.G837A|SNAP91_ENST00000437520.1_Missense_Mutation_p.G530A			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	837	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	p.G837A(4)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAATCCTGCTCCAGGTTGTCC	0.418000													8	45					0	0	0.008291	0	0
GPM6B	2824	broad.mit.edu	37	X	13825830	13825830	+	Missense_Mutation	SNP	C	C	G	rs150832725	byFrequency	TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chrX:13825830C>G	ENST00000316715.4	-	2	557	c.120G>C	c.(118-120)aaG>aaC	p.K40N	GPM6B_ENST00000454189.2_Intron|GPM6B_ENST00000493677.1_Missense_Mutation_p.K14N|GPM6B_ENST00000356942.5_Intron|GPM6B_ENST00000355135.2_Missense_Mutation_p.K40N|GPM6B_ENST00000398361.3_Intron	NM_001001995.1	NP_001001995.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	20					cell differentiation|nervous system development	integral to membrane		p.K40N(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						ACTGGTGGTTCTTTGAGCCTG	0.512000													10	128					0	0	0.006214	0	0
SCTR	6344	broad.mit.edu	37	2	120209616	120209616	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:120209616G>C	ENST00000019103.5	-	9	1158	c.891C>G	c.(889-891)atC>atG	p.I297M		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	297					digestion|excretion	integral to plasma membrane	secretin receptor activity	p.I297M(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GACCACGAATGATCCACCAGA	0.597000													4	27					0	0	0.009096	0	0
SLC39A4	55630	broad.mit.edu	37	8	145640272	145640272	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr8:145640272C>T	ENST00000276833.5	-	4	1041	c.738G>A	c.(736-738)ctG>ctA	p.L246L	SLC39A4_ENST00000301305.3_Silent_p.L271L	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	271						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	p.L246L(1)|p.L271L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CCCTGGCACTCAGGCATACCT	0.672000													42	216					0	0	0.014410	0	0
ZNF687	57592	broad.mit.edu	37	1	151260444	151260444	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:151260444C>G	ENST00000368879.2	+	2	1775	c.1677C>G	c.(1675-1677)atC>atG	p.I559M		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.I559M(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCATGCGCATCGAGGTCACCT	0.627000													63	112					0	0	0.014410	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	80					0	0	0.000602	0	0
BDP1	55814	broad.mit.edu	37	5	70837459	70837459	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:70837459A>C	ENST00000358731.4	+	29	6464	c.6201A>C	c.(6199-6201)agA>agC	p.R2067S	BDP1_ENST00000380675.2_Missense_Mutation_p.R203S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2067					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.R2067S(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAGTTCCAGAGAAGAAATAA	0.313000													34	120					0	0	0.003271	0	0
ARID2	196528	broad.mit.edu	37	12	46246594	46246594	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:46246594G>C	ENST00000334344.6	+	15	4860	c.4688G>C	c.(4687-4689)aGc>aCc	p.S1563T	ARID2_ENST00000457135.1_Missense_Mutation_p.S171T|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.S1173T|ARID2_ENST00000422737.1_Missense_Mutation_p.S1414T	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1563					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S1563T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAGATCCAAGCACTGTAGCT	0.448000			"""N, S, F"""		hepatocellular carcinoma								4	95					0	0	0.009096	0	0
ARSI	340075	broad.mit.edu	37	5	149677361	149677361	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:149677361C>T	ENST00000328668.7	-	2	1705	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	376						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGCTGATGGCCGGCCACACG	0.637000													5	192					0	0	0.001168	0	0
GOLGA3	2802	broad.mit.edu	37	12	133381541	133381541	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:133381541A>C	ENST00000204726.3	-	7	1916	c.1358T>G	c.(1357-1359)gTg>gGg	p.V453G	GOLGA3_ENST00000456883.2_Missense_Mutation_p.V453G|GOLGA3_ENST00000545875.1_Missense_Mutation_p.V453G|GOLGA3_ENST00000537452.1_Missense_Mutation_p.V453G|GOLGA3_ENST00000450791.2_Missense_Mutation_p.V453G	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	453					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGCACTCCACCTGCGCCTG	0.597000													7	27					0	0	0.007413	0	0
C20orf26	26074	broad.mit.edu	37	20	20322542	20322542	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr20:20322542C>T	ENST00000245957.5	+	26	3566	c.3490C>T	c.(3490-3492)Cgc>Tgc	p.R1164C	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1164								p.R1164C(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GAAAGAGTTACGCCAAATCTT	0.443000													21	60					0	0	0.010504	0	0
USP49	25862	broad.mit.edu	37	6	41774070	41774070	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:41774070C>T	ENST00000394253.3	-	3	981	c.652G>A	c.(652-654)Gac>Aac	p.D218N	USP49_ENST00000373006.1_Missense_Mutation_p.D218N|USP49_ENST00000373010.1_Missense_Mutation_p.D218N|USP49_ENST00000297229.2_Missense_Mutation_p.D218N|USP49_ENST00000373009.3_Missense_Mutation_p.D218N			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	218					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.D218N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			gggcccgcgtcgcggggcgTG	0.771000													6	13					0	0	0.003080	0	0
CNOT2	4848	broad.mit.edu	37	12	70704789	70704789	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:70704789G>A	ENST00000229195.3	+	3	742	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	CNOT2_ENST00000418359.3_Missense_Mutation_p.E55K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	55					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	p.E55K(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ACATCGGTCAGAAAAAGATGT	0.393000													4	112					0	0	0.001168	0	0
POLR2B	5431	broad.mit.edu	37	4	57876368	57876368	+	Splice_Site	SNP	T	T	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:57876368T>G	ENST00000510355.1	+	1	28		c.e1+2		POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000441246.2_Intron|POLR2B_ENST00000381227.1_Intron|POLR2B_ENST00000314595.5_Intron			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAGTGGCAGGTAAGTTAAAGT	0.353000													6	6					0	0	0.003330	0	0
FAM47A	158724	broad.mit.edu	37	X	34150227	34150227	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chrX:34150227C>T	ENST00000346193.3	-	1	220	c.169G>A	c.(169-171)Gac>Aac	p.D57N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	57										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TAGCGGAAGTCGTCCATGCCC	0.562000													4	94					0	0	0.009096	0	0
NAIF1	203245	broad.mit.edu	37	9	130829073	130829073	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr9:130829073C>G	ENST00000373078.4	-	1	527	c.308G>C	c.(307-309)gGa>gCa	p.G103A		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	103	Gly-rich.				apoptosis|induction of apoptosis	nucleus		p.G103A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCCCCAGCTCCGTCCTCCTC	0.682000													7	60					0	0	0.006214	0	0
ANKMY1	51281	broad.mit.edu	37	2	241451413	241451413	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:241451413G>A	ENST00000391987.1	-	11	2250	c.1884C>T	c.(1882-1884)gaC>gaT	p.D628D	ANKMY1_ENST00000373320.4_Silent_p.D398D|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Silent_p.D389D|ANKMY1_ENST00000403283.1_Silent_p.D566D|ANKMY1_ENST00000401804.1_Silent_p.D717D|ANKMY1_ENST00000373318.2_Silent_p.D487D|ANKMY1_ENST00000272972.3_Silent_p.D628D			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	628							zinc ion binding	p.D628D(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGGCAGCAGGTCCAGCTGTG	0.672000													12	64					0	0	0.013537	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100466570	100466570	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:100466570G>A	ENST00000279907.7	-	12	1641	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R127C|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.R477C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	477								p.R477C(4)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GGGGAAGAACGACATTGTTCC	0.343000													22	90					0	0	0.003954	0	0
TMEM163	81615	broad.mit.edu	37	2	135215671	135215671	+	Silent	SNP	C	C	G	rs17852356		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:135215671C>G	ENST00000281924.6	-	7	805	c.741G>C	c.(739-741)tcG>tcC	p.S247S		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	247						integral to membrane		p.S247S(1)		endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ACCAGACCGCCGAGTCATGCT	0.537000													7	207					0	0	0.003080	0	0
LMAN1L	79748	broad.mit.edu	37	15	75115013	75115013	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr15:75115013G>A	ENST00000309664.5	+	11	1301	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	LMAN1L_ENST00000379709.3_Missense_Mutation_p.G376R|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	388						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.G388R(2)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGCTCCATGGACAGTGGAC	0.607000													19	114					0	0	0.007413	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155932776	155932776	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:155932776C>A	ENST00000368316.1	-	12	1309	c.839G>T	c.(838-840)gGc>gTc	p.G280V	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.G307V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.G280V|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.G309V|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.G308V			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	308	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.G280V(2)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCGGGTGCTGCCAGGGCACAG	0.597000													23	151					9.95505e-16	1.14804e-15	0.014323	1	0
COG5	10466	broad.mit.edu	37	7	107013191	107013191	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:107013191G>A	ENST00000393603.2	-	8	1048	c.777C>T	c.(775-777)gtC>gtT	p.V259V	COG5_ENST00000347053.3_Silent_p.V259V|COG5_ENST00000297135.3_Silent_p.V259V|COG5_ENST00000475638.2_5'UTR	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	259					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.V259V(2)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GAGCTGTTCCGACTTGAGTTG	0.343000													15	82					0	0	0.003163	0	0
ITGA8	8516	broad.mit.edu	37	10	15697389	15697389	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:15697389C>A	ENST00000378076.3	-	11	1318	c.965G>T	c.(964-966)gGa>gTa	p.G322V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	322					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G322V(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AACGGTATATCCAAAATAAGA	0.318000													14	120					4.3838e-07	4.89753e-07	0.001855	1	0
GATA3	2625	broad.mit.edu	37	10	8106012	8106012	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:8106012G>A	ENST00000379328.3	+	4	1403	c.835G>A	c.(835-837)Ggc>Agc	p.G279S	GATA3_ENST00000461472.1_Intron|GATA3_ENST00000346208.3_Missense_Mutation_p.G278S	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	278					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.G279S(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCGGCGAGATGGCACGGGACA	0.557000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						34	138					0	0	0.003271	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204410669	204410669	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:204410669T>C	ENST00000367187.3	-	22	3735	c.3179A>G	c.(3178-3180)aAt>aGt	p.N1060S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.N1032S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1060					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.N1060S(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGGACAGCATTGGAGTTGAA	0.507000													16	82					0	0	0.006122	0	0
WWC1	23286	broad.mit.edu	37	5	167850949	167850949	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:167850949C>T	ENST00000265293.4	+	11	2188	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	WWC1_ENST00000521089.1_Silent_p.L562L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	562					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.L562L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ATGCCTTCCTCAACTCCTTGG	0.587000													32	176					0	0	0.013726	0	0
OBSCN	84033	broad.mit.edu	37	1	228404762	228404762	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:228404762C>G	ENST00000570156.2	+	8	2500	c.2426C>G	c.(2425-2427)gCc>gGc	p.A809G	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A809G|OBSCN_ENST00000284548.11_Missense_Mutation_p.A809G	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	809	Ig-like 8.				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	p.A809G(4)		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)				TGTGTGGATGCCGTGGCTGGG	0.647000													6	23					0	0	0.004990	0	0
DNAH3	55567	broad.mit.edu	37	16	20996932	20996932	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr16:20996932C>G	ENST00000261383.3	-	48	7131	c.7132G>C	c.(7132-7134)Gag>Cag	p.E2378Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2378					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E2378Q(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAGTGATCTCATCGTAGATT	0.443000													13	279					0	0	0.001855	0	0
PRKCG	5582	broad.mit.edu	37	19	54387495	54387495	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:54387495G>T	ENST00000263431.3	+	3	565	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	PRKCG_ENST00000542049.1_Missense_Mutation_p.G19V|PRKCG_ENST00000540413.1_Missense_Mutation_p.D95Y|PRKCG_ENST00000536044.1_Missense_Mutation_p.D95Y	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	95					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.D95Y(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCCCCAGACGGACGTGAGTGC	0.582000													5	144					4.096e-09	4.64863e-09	0.001168	1	0
LCA5L	150082	broad.mit.edu	37	21	40778294	40778294	+	Silent	SNP	G	G	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr21:40778294G>T	ENST00000358268.2	-	10	2055	c.1527C>A	c.(1525-1527)ggC>ggA	p.G509G	WRB_ENST00000541890.1_Intron|LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000380671.2_Silent_p.G509G|LCA5L_ENST00000288350.3_Silent_p.G509G			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	509								p.G509G(4)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				AGGGAGCAGTGCCTTTGCCAA	0.453000													23	58					1.90627e-21	2.25286e-21	0.012319	1	0
ST18	9705	broad.mit.edu	37	8	53071617	53071617	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr8:53071617G>A	ENST00000276480.7	-	15	2330	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	549						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G549G(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGTGTGGGCGCCTGCACTAG	0.483000													57	198					0	0	0.014410	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076005	49076005	+	Splice_Site	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr13:49076005C>T	ENST00000344532.3	-	12	1541		c.e12-1		RCBTB2_ENST00000430805.2_Splice_Site|RCBTB2_ENST00000544492.1_Splice_Site	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2								Ran guanyl-nucleotide exchange factor activity	p.?(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TCATCAGGTTCTAGGAGAATA	0.433000													4	63					0	0	0.009096	0	0
CUL9	23113	broad.mit.edu	37	6	43184061	43184061	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:43184061C>T	ENST00000252050.4	+	31	6186	c.6102C>T	c.(6100-6102)ggC>ggT	p.G2034G	CUL9_ENST00000372647.2_Silent_p.G2006G|RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000354495.3_Silent_p.G1924G	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2034					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.G2034G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCACTGGGGCGCTGAACAGC	0.597000													25	89					0	0	0.004656	0	0
MAN2A2	4122	broad.mit.edu	37	15	91449666	91449666	+	Silent	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr15:91449666C>G	ENST00000360468.3	+	5	792	c.774C>G	c.(772-774)tcC>tcG	p.S258S	MAN2A2_ENST00000559717.1_Silent_p.S258S	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	258					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.S258S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGGCCAATTCCCACTACTTTG	0.572000													23	105					0	0	0.002780	0	0
WDSUB1	151525	broad.mit.edu	37	2	160139521	160139521	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:160139521G>A	ENST00000409990.3	-	2	316	c.60C>T	c.(58-60)ttC>ttT	p.F20F	WDSUB1_ENST00000359774.4_Silent_p.F20F|WDSUB1_ENST00000409124.1_Silent_p.F20F|WDSUB1_ENST00000392796.3_Silent_p.F20F|WDSUB1_ENST00000358147.4_Silent_p.F20F	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	20						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.F20F(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GGGAAAAGGAGAAGGCACAGC	0.408000													4	144					0	0	0.009096	0	0
PDS5B	23047	broad.mit.edu	37	13	33225967	33225967	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr13:33225967G>A	ENST00000315596.10	+	3	321	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	45					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.M45I(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTATGGATATGGACCAGGACT	0.318000													13	210					0	0	0.013537	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													6	73					0	0	0.001984	0	0
FAM19A4	151647	broad.mit.edu	37	3	68802078	68802078	+	Silent	SNP	G	G	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:68802078G>C	ENST00000295569.7	-	4	714	c.222C>G	c.(220-222)gtC>gtG	p.V74V		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	74						extracellular region		p.V74V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AAGAGCACTTGACCGTTTGTG	0.537000													11	178					0	0	0.013537	0	0
MSC	9242	broad.mit.edu	37	8	72756065	72756065	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr8:72756065G>A	ENST00000325509.4	-	1	638	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	117					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			ATCCGGGCACGCTCACGGGCG	0.687000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	77					0	0	0.009096	0	0
OR51B5	282763	broad.mit.edu	37	11	5364346	5364346	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:5364346T>A	ENST00000300773.2	-	1	463	c.409A>T	c.(409-411)Act>Tct	p.T137S	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T137S(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTACTCGAGTATTAGTAAGT	0.458000													34	87					0	0	0.013726	0	0
RAB7A	7879	broad.mit.edu	37	3	128514237	128514237	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:128514237G>A	ENST00000265062.3	+	2	273	c.27G>A	c.(25-27)ctG>ctA	p.L9L	RAB7A_ENST00000485280.1_Silent_p.L9L|RAB7A_ENST00000482525.1_Silent_p.L9L	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	9					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		AAGTGTTGCTGAAGGTTATCA	0.453000											OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	165					0	0	0.001168	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	21					0	0	0.000602	0	0
MUC5B	727897	broad.mit.edu	37	11	1265999	1265999	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:1265999T>C	ENST00000447027.1	+	31	7956	c.7898T>C	c.(7897-7899)cTt>cCt	p.L2633P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2630	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.L2630P(1)|p.L2609P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACGCACGCTTCCAGTGTGG	0.637000													5	100					0	0	0.001168	0	0
OR1M1	125963	broad.mit.edu	37	19	9204692	9204692	+	Missense_Mutation	SNP	G	G	A	rs144608760		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:9204692G>A	ENST00000429566.3	+	1	838	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V258I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CACCATTGGCGTCTATCTGTG	0.557000													67	301					0	0	0.014410	0	0
MTMR4	9110	broad.mit.edu	37	17	56573109	56573109	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr17:56573109C>A	ENST00000323456.5	-	16	2518	c.2394G>T	c.(2392-2394)atG>atT	p.M798I	MTMR4_ENST00000579925.1_Missense_Mutation_p.M741I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	798						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.M798I(2)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCACACCTAGCATGGAGTCTG	0.527000													57	209					1.27862e-28	1.56276e-28	0.014410	1	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								26	48					0	0	0.008361	0	0
SLC17A9	63910	broad.mit.edu	37	20	61588916	61588916	+	Silent	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr20:61588916C>G	ENST00000370349.3	+	4	567	c.363C>G	c.(361-363)ctC>ctG	p.L121L	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.L127L			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	127					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CACGCATCCTCATGGGCTTGC	0.647000													3	82					0	0	0.004672	0	0
NPAP1	23742	broad.mit.edu	37	15	24922679	24922679	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr15:24922679C>T	ENST00000329468.2	+	1	2139	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S555S(1)									CAGTCATTTCCACTGTCACAA	0.488000													13	246					0	0	0.003163	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871633	15871633	+	RNA	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:15871633C>T	ENST00000595525.1	+	0	449				CYP4F24P_ENST00000587443.2_RNA																							ACCTGGGTCCCGCAGAGAAGG	0.552000													7	65					0	0	0.004482	0	0
NFATC2	4773	broad.mit.edu	37	20	50139845	50139845	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr20:50139845G>A	ENST00000371564.3	-	2	1154	c.935C>T	c.(934-936)aCg>aTg	p.T312M	NFATC2_ENST00000396009.3_Missense_Mutation_p.T312M|NFATC2_ENST00000414705.1_Missense_Mutation_p.T292M	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	312					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGGCGAGTCCGTGGCGAGGCT	0.687000													3	28					0	0	0.009096	0	0
CDH6	1004	broad.mit.edu	37	5	31317961	31317961	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:31317961G>A	ENST00000265071.2	+	11	2077	c.1812G>A	c.(1810-1812)gcG>gcA	p.A604A	CDH6_ENST00000514738.1_Silent_p.A549A	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	604	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATGCGGAGGCGCTCATCCACC	0.582000													5	172					0	0	0.000602	0	0
TACR3	6870	broad.mit.edu	37	4	104640578	104640578	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:104640578G>A	ENST00000304883.2	-	1	395	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	85						integral to plasma membrane	tachykinin receptor activity	p.I85I(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACCAGAGCGCGATGCGCCAGG	0.647000													14	171					0	0	0.004007	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801620	140801620	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:140801620G>A	ENST00000398587.2	+	1	859	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G276R|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.G276R(2)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAATCAACGGGGAAGTAAT	0.463000													68	356					0	0	0.014410	0	0
CCT4	10575	broad.mit.edu	37	2	62104098	62104098	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:62104098T>G	ENST00000394440.3	-	7	1030	c.734A>C	c.(733-735)aAg>aCg	p.K245T	CCT4_ENST00000544185.1_Missense_Mutation_p.K95T|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000461540.2_5'UTR|CCT4_ENST00000538252.1_Missense_Mutation_p.K189T|CCT4_ENST00000544079.1_Missense_Mutation_p.K215T	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	245					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	p.K245T(2)		breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			AAGCCCAATCTTGGCCTTTTC	0.398000													28	238					0	0	0.010818	0	0
CAPN9	10753	broad.mit.edu	37	1	230931001	230931001	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:230931001C>T	ENST00000354537.1	+	17	1967	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Silent_p.L592L|CAPN9_ENST00000480004.1_3'UTR|CAPN9_ENST00000271971.2_Silent_p.L655L	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	655	Domain IV.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CCTCAACTGCCTGGTCCGGCT	0.597000													3	49					0	0	0.004672	0	0
DNAH7	56171	broad.mit.edu	37	2	196664038	196664038	+	Silent	SNP	T	T	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:196664038T>A	ENST00000312428.6	-	55	10435	c.10335A>T	c.(10333-10335)ctA>ctT	p.L3445L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3445	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3445L(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGCAAATTTTAGAAGGGCAG	0.408000													82	286					0	0	1	0	0
SPATA31D4	389761	broad.mit.edu	37	9	84547475	84547475	+	RNA	SNP	G	G	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr9:84547475G>C	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							AACTCTGAGAGAGACCTAGGA	0.473000													6	137					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176318466	176318466	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr5:176318466G>A	ENST00000292432.5	-	3	273	c.182C>T	c.(181-183)gCg>gTg	p.A61V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	61	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.A61V(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCTCAGCGCCTGCTCCAT	0.612000													4	42					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160139521	160139521	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:160139521G>A	ENST00000409990.3	-	2	316	c.60C>T	c.(58-60)ttC>ttT	p.F20F	WDSUB1_ENST00000359774.4_Silent_p.F20F|WDSUB1_ENST00000358147.4_Silent_p.F20F|WDSUB1_ENST00000392796.3_Silent_p.F20F|WDSUB1_ENST00000409124.1_Silent_p.F20F	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	20						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.F20F(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GGGAAAAGGAGAAGGCACAGC	0.408000													8	193					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48607875	48607875	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr19:48607875G>A	ENST00000354276.3	-	4	554	c.227C>T	c.(226-228)aCg>aTg	p.T76M	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.T86M|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.T76M|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.T76M	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	76	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.T76M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGCGAGGTACGTGACGGCATC	0.522000													4	61					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924778	70924778	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr14:70924778G>C	ENST00000603540.1	+	2	820	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	ADAM21_ENST00000267499.3_Missense_Mutation_p.E188Q|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	188					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.E188Q(4)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTTGGAATTTGAAGAGGCTGA	0.438000													12	95					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141072616	141072616	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:141072616C>G	ENST00000389484.3	-	83	13664	c.12693G>C	c.(12691-12693)gaG>gaC	p.E4231D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4231	EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E4231D(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCACCTTTCTCATTTAAAA	0.383000										TSP Lung(27;0.18)			10	175					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167850949	167850949	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr5:167850949C>T	ENST00000265293.4	+	11	2188	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	WWC1_ENST00000521089.1_Silent_p.L562L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	562					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.L562L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ATGCCTTCCTCAACTCCTTGG	0.587000													12	66					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70837459	70837459	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr5:70837459A>C	ENST00000358731.4	+	29	6464	c.6201A>C	c.(6199-6201)agA>agC	p.R2067S	BDP1_ENST00000380675.2_Missense_Mutation_p.R203S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2067					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.R2067S(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAGTTCCAGAGAAGAAATAA	0.313000													9	37					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871633	15871633	+	RNA	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr19:15871633C>T	ENST00000595525.1	+	0	449				CYP4F24P_ENST00000587443.2_RNA																							ACCTGGGTCCCGCAGAGAAGG	0.552000													19	92					0	0	1	0	0
FAM19A4	151647	broad.mit.edu	37	3	68802078	68802078	+	Silent	SNP	G	G	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:68802078G>C	ENST00000295569.7	-	4	714	c.222C>G	c.(220-222)gtC>gtG	p.V74V		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	74						extracellular region		p.V74V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AAGAGCACTTGACCGTTTGTG	0.537000													9	180					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25010819	25010819	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr22:25010819C>G	ENST00000400382.1	+	6	996	c.241C>G	c.(241-243)Cac>Gac	p.H81D	GGT1_ENST00000400383.1_Missense_Mutation_p.H81D|GGT1_ENST00000400380.1_Missense_Mutation_p.H81D|GGT1_ENST00000406383.2_Missense_Mutation_p.H81D|GGT1_ENST00000248923.4_Missense_Mutation_p.H81D			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	81					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	p.H81D(2)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CATGAATGCCCACAGCATGGG	0.622000													9	22					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46246594	46246594	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr12:46246594G>C	ENST00000334344.6	+	15	4860	c.4688G>C	c.(4687-4689)aGc>aCc	p.S1563T	ARID2_ENST00000444670.1_Missense_Mutation_p.S1173T|ARID2_ENST00000422737.1_Missense_Mutation_p.S1414T|ARID2_ENST00000457135.1_Missense_Mutation_p.S171T|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1563					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S1563T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAGATCCAAGCACTGTAGCT	0.448000			"""N, S, F"""		hepatocellular carcinoma								7	120					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100532564	100532564	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr4:100532564T>C	ENST00000457717.1	+	15	2199	c.1943T>C	c.(1942-1944)cTg>cCg	p.L648P	MTTP_ENST00000265517.5_Missense_Mutation_p.L648P|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.L675P	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	648	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.L648P(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGAAGTAACCTGAACATCTTT	0.433000													75	149					0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93851587	93851587	+	Splice_Site	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr10:93851587C>T	ENST00000412050.4	-	8	1733	c.1645_splice	c.e8+1	p.V549_splice	CPEB3_ENST00000265997.4_Splice_Site_p.V563_splice	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	563	RRM 2.						nucleotide binding|RNA binding	p.V563I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TTCCACTCACCAGCTCGAAGG	0.418000													4	66					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56895604	56895604	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr19:56895604G>A	ENST00000301310.4	-	5	1340	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	ZNF582_ENST00000586929.1_Silent_p.P394P	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P394P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TACATTGGTAGGGTTTCTCTC	0.423000													7	137					0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70704789	70704789	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr12:70704789G>A	ENST00000229195.3	+	3	742	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	CNOT2_ENST00000418359.3_Missense_Mutation_p.E55K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	55					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	p.E55K(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ACATCGGTCAGAAAAAGATGT	0.393000													15	228					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364346	5364346	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr11:5364346T>A	ENST00000300773.2	-	1	463	c.409A>T	c.(409-411)Act>Tct	p.T137S	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T137S(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTACTCGAGTATTAGTAAGT	0.458000													39	102					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363240	21363240	+	RNA	SNP	C	C	T	rs4820722	by1000genomes	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr22:21363240C>T	ENST00000452284.1	+	0	907				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						TGGCTCGAAGCGGGCACTGGC	0.587000													7	65					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151260444	151260444	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:151260444C>G	ENST00000368879.2	+	2	1775	c.1677C>G	c.(1675-1677)atC>atG	p.I559M		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.I559M(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCATGCGCATCGAGGTCACCT	0.627000													21	25					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91449666	91449666	+	Silent	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr15:91449666C>G	ENST00000360468.3	+	5	792	c.774C>G	c.(772-774)tcC>tcG	p.S258S	MAN2A2_ENST00000559717.1_Silent_p.S258S	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	258					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.S258S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGGCCAATTCCCACTACTTTG	0.572000													10	23					0	0	1	0	0
CAPN10	11132	broad.mit.edu	37	2	241531406	241531406	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:241531406A>C	ENST00000391984.2	+	4	723	c.527A>C	c.(526-528)gAc>gCc	p.D176A	CAPN10_ENST00000404753.3_Missense_Mutation_p.D176A|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.D176A|CAPN10_ENST00000391982.2_Missense_Mutation_p.D176A|CAPN10_ENST00000270364.7_Intron	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN	calpain 10	176	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	p.D176A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GCCCTGGTGGACCTGACCGGC	0.657000													2	4					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32207725	32207725	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:32207725G>A	ENST00000373658.3	-	8	1687	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V	BAI2_ENST00000440175.2_Missense_Mutation_p.A91V|BAI2_ENST00000527361.1_Missense_Mutation_p.A449V|BAI2_ENST00000398538.1_Missense_Mutation_p.A437V|BAI2_ENST00000398542.1_Missense_Mutation_p.A382V|BAI2_ENST00000398547.1_Missense_Mutation_p.A382V|BAI2_ENST00000257070.4_Missense_Mutation_p.A449V|BAI2_ENST00000373655.2_Missense_Mutation_p.A449V|BAI2_ENST00000398556.3_Missense_Mutation_p.A397V	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	449	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A449V(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGCTGGGCCCGCCACGCTGCA	0.657000													6	7					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8106012	8106012	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr10:8106012G>A	ENST00000379328.3	+	4	1403	c.835G>A	c.(835-837)Ggc>Agc	p.G279S	GATA3_ENST00000346208.3_Missense_Mutation_p.G278S|GATA3_ENST00000461472.1_Intron	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	278					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.G279S(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCGGCGAGATGGCACGGGACA	0.557000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						8	32					0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975184	31975184	+	RNA	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr6:31975184G>A	ENST00000342991.6	+	0	1307					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CCTGATCGGTGGCACTGAGAC	0.602000													4	38					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20322542	20322542	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr20:20322542C>T	ENST00000245957.5	+	26	3566	c.3490C>T	c.(3490-3492)Cgc>Tgc	p.R1164C	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1164								p.R1164C(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GAAAGAGTTACGCCAAATCTT	0.443000													4	22					0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30574350	30574350	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr6:30574350C>G	ENST00000376511.2	-	8	1081	c.529G>C	c.(529-531)Gag>Cag	p.E177Q		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	177	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	p.E177Q(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTTCACCTCTGTCAAAGGT	0.488000													8	120					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108076844	108076844	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:108076844A>G	ENST00000357759.5	+	6	1253	c.839A>G	c.(838-840)aAt>aGt	p.N280S	HHLA2_ENST00000467761.1_Missense_Mutation_p.N280S|HHLA2_ENST00000467562.1_Missense_Mutation_p.N216S|HHLA2_ENST00000491820.1_Missense_Mutation_p.N280S|HHLA2_ENST00000489514.2_Missense_Mutation_p.N280S	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	280	Ig-like V-type 2.					integral to membrane		p.N280S(2)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCCTCACAAAATACAATTATC	0.378000													15	359					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41224584	41224584	+	Silent	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr15:41224584C>A	ENST00000249749.5	+	6	1065	c.789C>A	c.(787-789)acC>acA	p.T263T		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	263	EGF-like 2.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	p.T263T(1)		breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCACGGCACCTGCAGCACTC	0.612000													3	4					0.000602214	0.000617856	1	1	0
AGRN	375790	broad.mit.edu	37	1	957721	957721	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:957721C>T	ENST00000379370.2	+	2	392	c.342C>T	c.(340-342)atC>atT	p.I114I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	114	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.I114I(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACACCAGGATCTTCTTTGTGA	0.612000													3	8					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98742267	98742267	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr10:98742267G>A	ENST00000286067.2	+	1	1227	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	374								p.D374N(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGTCAGTGAAGATGTCATTTC	0.517000													7	79					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56573109	56573109	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr17:56573109C>A	ENST00000323456.5	-	16	2518	c.2394G>T	c.(2392-2394)atG>atT	p.M798I	MTMR4_ENST00000579925.1_Missense_Mutation_p.M741I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	798						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.M798I(2)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCACACCTAGCATGGAGTCTG	0.527000													11	78					0.000219431	0.000228093	1	1	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								14	24					0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	30008662	30008662	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr7:30008662A>G	ENST00000426154.1	-	2	198	c.22T>C	c.(22-24)Tac>Cac	p.Y8H	SCRN1_ENST00000242059.5_Missense_Mutation_p.Y8H|SCRN1_ENST00000494620.1_Intron|SCRN1_ENST00000409570.1_Missense_Mutation_p.Y8H|SCRN1_ENST00000409497.1_Missense_Mutation_p.Y8H	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	8					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.Y28H(2)|p.Y8H(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ACAAAACAGTAACTTGGAGGA	0.478000													37	47					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100466570	100466570	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr12:100466570G>A	ENST00000279907.7	-	12	1641	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.R477C|UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R127C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	477								p.R477C(4)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GGGGAAGAACGACATTGTTCC	0.343000													45	182					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172847	78172847	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr6:78172847C>A	ENST00000369947.2	-	1	643	c.274G>T	c.(274-276)Gcg>Tcg	p.A92S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	92					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	p.A92S(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	TCGGTGACCGCCAGAGAGGCG	0.597000													13	43					1.99824e-07	2.19251e-07	1	1	0
SEC61A1	29927	broad.mit.edu	37	3	127785935	127785935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:127785935C>T	ENST00000243253.3	+	9	1100	c.916C>T	c.(916-918)Caa>Taa	p.Q306*	SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000424880.2_Nonsense_Mutation_p.Q186*|SEC61A1_ENST00000464451.1_Nonsense_Mutation_p.Q312*|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	306					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	p.Q306*(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGTCATCTCCCAAATGCTCTC	0.527000													22	78					0	0	1	0	0
GPM6B	2824	broad.mit.edu	37	X	13825830	13825830	+	Missense_Mutation	SNP	C	C	G	rs150832725	byFrequency	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chrX:13825830C>G	ENST00000316715.4	-	2	557	c.120G>C	c.(118-120)aaG>aaC	p.K40N	GPM6B_ENST00000398361.3_Intron|GPM6B_ENST00000356942.5_Intron|GPM6B_ENST00000493677.1_Missense_Mutation_p.K14N|GPM6B_ENST00000454189.2_Intron|GPM6B_ENST00000355135.2_Missense_Mutation_p.K40N	NM_001001995.1	NP_001001995.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	20					cell differentiation|nervous system development	integral to membrane		p.K40N(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						ACTGGTGGTTCTTTGAGCCTG	0.512000													12	83					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204692	9204692	+	Missense_Mutation	SNP	G	G	A	rs144608760		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr19:9204692G>A	ENST00000429566.3	+	1	838	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V258I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CACCATTGGCGTCTATCTGTG	0.557000													33	166					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75115013	75115013	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr15:75115013G>A	ENST00000309664.5	+	11	1301	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	LMAN1L_ENST00000379709.3_Missense_Mutation_p.G376R|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	388						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.G388R(2)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGCTCCATGGACAGTGGAC	0.607000													6	21					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858028	9858028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr16:9858028C>A	ENST00000396573.2	-	14	3682	c.3373G>T	c.(3373-3375)Gag>Tag	p.E1125*	GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E968*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1125					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1125*(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAACCAGGCTCCTTCTCACCA	0.507000													28	315					1.80694e-10	2.01054e-10	1	1	0
ATP2B2	491	broad.mit.edu	37	3	10401606	10401606	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:10401606G>A	ENST00000397077.1	-	12	2301	c.1726C>T	c.(1726-1728)Cgc>Tgc	p.R576C	ATP2B2_ENST00000352432.4_Missense_Mutation_p.R621C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R607C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R576C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R621C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	621					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.R576C(2)|p.R621C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGTACATGCGGAAGCTCTCG	0.597000													62	54					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155932776	155932776	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:155932776C>A	ENST00000368316.1	-	12	1309	c.839G>T	c.(838-840)gGc>gTc	p.G280V	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.G280V|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.G309V|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.G308V|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.G307V			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	308	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.G280V(2)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCGGGTGCTGCCAGGGCACAG	0.597000													14	36					7.93312e-07	8.58516e-07	1	1	0
COG5	10466	broad.mit.edu	37	7	107013191	107013191	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr7:107013191G>A	ENST00000393603.2	-	8	1048	c.777C>T	c.(775-777)gtC>gtT	p.V259V	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Silent_p.V259V|COG5_ENST00000347053.3_Silent_p.V259V	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	259					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.V259V(2)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GAGCTGTTCCGACTTGAGTTG	0.343000													17	64					0	0	1	0	0
SRPK3	26576	broad.mit.edu	37	X	153046993	153046993	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chrX:153046993T>G	ENST00000489426.1	+	9	2791	c.425T>G	c.(424-426)tTc>tGc	p.F142C	SRPK3_ENST00000370101.3_Missense_Mutation_p.F75C|SRPK3_ENST00000370100.1_Missense_Mutation_p.F33C|SRPK3_ENST00000393786.3_Missense_Mutation_p.F75C|SRPK3_ENST00000370108.3_Missense_Mutation_p.F75C|SRPK3_ENST00000370104.1_Missense_Mutation_p.F75C			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	75	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGACGTGTTCAATGGGCGG	0.657000													2	0					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15697389	15697389	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr10:15697389C>A	ENST00000378076.3	-	11	1318	c.965G>T	c.(964-966)gGa>gTa	p.G322V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	322					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G322V(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AACGGTATATCCAAAATAAGA	0.318000													38	220					1.4374e-25	1.66992e-25	1	1	0
FBXO30	84085	broad.mit.edu	37	6	146126568	146126568	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr6:146126568G>A	ENST00000237281.4	-	2	1140	c.974C>T	c.(973-975)tCa>tTa	p.S325L		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	325							ubiquitin-protein ligase activity|zinc ion binding	p.S325L(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GGAAGGTTTTGAAGTGCCATC	0.428000													70	132					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99796183	99796183	+	Missense_Mutation	SNP	G	G	A	rs149765159		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr7:99796183G>A	ENST00000426455.1	+	13	1737	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	STAG3_ENST00000394018.2_Missense_Mutation_p.A386T|STAG3_ENST00000317296.5_Missense_Mutation_p.A444T|STAG3_ENST00000440830.1_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	444					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.A444T(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCTCTGCCGCAGGCGAATT	0.547000													19	89					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640578	104640578	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr4:104640578G>A	ENST00000304883.2	-	1	395	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	85						integral to plasma membrane	tachykinin receptor activity	p.I85I(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACCAGAGCGCGATGCGCCAGG	0.647000													23	192					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801620	140801620	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr5:140801620G>A	ENST00000398587.2	+	1	859	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G276R|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.G276R(2)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAATCAACGGGGAAGTAAT	0.463000													21	103					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204410669	204410669	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:204410669T>C	ENST00000367187.3	-	22	3735	c.3179A>G	c.(3178-3180)aAt>aGt	p.N1060S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.N1032S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1060					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.N1060S(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGGACAGCATTGGAGTTGAA	0.507000													16	79					0	0	1	0	0
CCT4	10575	broad.mit.edu	37	2	62104098	62104098	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:62104098T>G	ENST00000394440.3	-	7	1030	c.734A>C	c.(733-735)aAg>aCg	p.K245T	CCT4_ENST00000544079.1_Missense_Mutation_p.K215T|CCT4_ENST00000544185.1_Missense_Mutation_p.K95T|CCT4_ENST00000538252.1_Missense_Mutation_p.K189T|CCT4_ENST00000461540.2_5'UTR|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	245					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	p.K245T(2)		breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			AAGCCCAATCTTGGCCTTTTC	0.398000													20	102					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996932	20996932	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr16:20996932C>G	ENST00000261383.3	-	48	7131	c.7132G>C	c.(7132-7134)Gag>Cag	p.E2378Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2378					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E2378Q(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAGTGATCTCATCGTAGATT	0.443000													9	219					0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3599647	3599647	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:3599647A>C	ENST00000378295.4	+	3	244	c.89A>C	c.(88-90)gAc>gCc	p.D30A	TP73_ENST00000603362.1_Missense_Mutation_p.D30A|TP73_ENST00000604479.1_Missense_Mutation_p.D30A|TP73_ENST00000346387.4_Missense_Mutation_p.D30A|TP73_ENST00000604074.1_Missense_Mutation_p.D30A|TP73_ENST00000357733.3_Missense_Mutation_p.D30A|TP73_ENST00000354437.4_Missense_Mutation_p.D30A	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	30	Asp/Glu-rich (acidic).|Transactivation (By similarity).				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity	p.D30A(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		ACCTACTTCGACCTTCCCCAG	0.582000													2	5					0	0	1	0	0
TBC1D23	55773	broad.mit.edu	37	3	100009497	100009497	+	Silent	SNP	T	T	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:100009497T>G	ENST00000394144.4	+	5	559	c.552T>G	c.(550-552)tcT>tcG	p.S184S	TBC1D23_ENST00000475134.1_Silent_p.S47S|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.S184S	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	184	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.S184S(2)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AGCTTTGTTCTTATCTTGATA	0.363000													10	82					0	0	1	0	0
SPO11	23626	broad.mit.edu	37	20	55909089	55909089	+	Missense_Mutation	SNP	G	G	A	rs141106732		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr20:55909089G>A	ENST00000371263.3	+	5	557	c.448G>A	c.(448-450)Gtc>Atc	p.V150I	SPO11_ENST00000345868.4_Missense_Mutation_p.V112I|SPO11_ENST00000371260.4_Missense_Mutation_p.V112I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	150					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	p.V150I(2)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CCAGACTGTCGTCGACAATAT	0.274000								Editing and processing nucleases					13	32					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37619172	37619172	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr17:37619172C>T	ENST00000447079.4	+	1	881	c.848C>T	c.(847-849)tCg>tTg	p.S283L	CDK12_ENST00000430627.2_Missense_Mutation_p.S283L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	283					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.S283L(2)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAGGAGCCTTCGGCCTACCAG	0.552000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			7	52					0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40778294	40778294	+	Silent	SNP	G	G	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr21:40778294G>T	ENST00000358268.2	-	10	2055	c.1527C>A	c.(1525-1527)ggC>ggA	p.G509G	WRB_ENST00000541890.1_Intron|LCA5L_ENST00000380671.2_Silent_p.G509G|LCA5L_ENST00000288350.3_Silent_p.G509G|LCA5L_ENST00000495240.1_5'UTR			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	509								p.G509G(4)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				AGGGAGCAGTGCCTTTGCCAA	0.453000													7	42					8.12818e-05	8.56169e-05	1	1	0
LRGUK	136332	broad.mit.edu	37	7	133943059	133943059	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr7:133943059C>T	ENST00000285928.2	+	19	2318	c.2249C>T	c.(2248-2250)cCg>cTg	p.P750L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	750							ATP binding|kinase activity	p.P750L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CGGTTCTGTCCGTGGTCAAAA	0.453000													14	163					0	0	1	0	0
PDC	5132	broad.mit.edu	37	1	186413131	186413131	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:186413131C>A	ENST00000391997.2	-	4	808	c.721G>T	c.(721-723)Gaa>Taa	p.E241*	PDC_ENST00000497198.1_Nonsense_Mutation_p.E189*|PDC_ENST00000340129.5_Nonsense_Mutation_p.E241*|PDC_ENST00000456239.2_Nonsense_Mutation_p.E189*	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	241					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	p.E241*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TCTTCTTCTTCTATTTTGGTA	0.353000													31	679					6.2361e-21	7.13989e-21	1	1	0
SNAP91	9892	broad.mit.edu	37	6	84270599	84270599	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr6:84270599C>G	ENST00000428679.2	-	27	3103	c.2510G>C	c.(2509-2511)gGa>gCa	p.G837A	SNAP91_ENST00000521743.1_Missense_Mutation_p.G837A|SNAP91_ENST00000369694.2_Missense_Mutation_p.G837A|SNAP91_ENST00000520302.1_Missense_Mutation_p.G807A|SNAP91_ENST00000520213.1_Missense_Mutation_p.G530A|SNAP91_ENST00000195649.6_Missense_Mutation_p.G832A|SNAP91_ENST00000521485.1_Missense_Mutation_p.G832A|SNAP91_ENST00000437520.1_Missense_Mutation_p.G530A|SNAP91_ENST00000439399.2_Missense_Mutation_p.G837A			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	837	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	p.G837A(4)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAATCCTGCTCCAGGTTGTCC	0.418000													15	117					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53071617	53071617	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr8:53071617G>A	ENST00000276480.7	-	15	2330	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	549						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G549G(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGTGTGGGCGCCTGCACTAG	0.483000													42	109					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120209616	120209616	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:120209616G>C	ENST00000019103.5	-	9	1158	c.891C>G	c.(889-891)atC>atG	p.I297M		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	297					digestion|excretion	integral to plasma membrane	secretin receptor activity	p.I297M(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GACCACGAATGATCCACCAGA	0.597000													8	31					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076005	49076005	+	Splice_Site	SNP	C	C	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr13:49076005C>T	ENST00000344532.3	-	12	1541		c.e12-1		RCBTB2_ENST00000544492.1_Splice_Site|RCBTB2_ENST00000430805.2_Splice_Site	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2								Ran guanyl-nucleotide exchange factor activity	p.?(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TCATCAGGTTCTAGGAGAATA	0.433000													7	55					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133764129	133764129	+	Nonsense_Mutation	SNP	G	G	T	rs75943312		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr8:133764129G>T	ENST00000356838.3	-	4	358	c.216C>A	c.(214-216)taC>taA	p.Y72*	TMEM71_ENST00000523829.1_Nonsense_Mutation_p.Y72*|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Nonsense_Mutation_p.Y72*	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	72						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCCAAATATAGTAGCCATTGG	0.488000													5	220					2.17888e-05	2.39026e-05	0.006214	1	0
DNAH7	56171	broad.mit.edu	37	2	196664038	196664038	+	Silent	SNP	T	T	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:196664038T>A	ENST00000312428.6	-	55	10435	c.10335A>T	c.(10333-10335)ctA>ctT	p.L3445L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3445	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3445L(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGCAAATTTTAGAAGGGCAG	0.408000													53	244					0	0	0.014410	0	0
C16orf58	64755	broad.mit.edu	37	16	31502203	31502203	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr16:31502203C>G	ENST00000327237.2	-	13	1399	c.1360G>C	c.(1360-1362)Gag>Cag	p.E454Q	C16orf58_ENST00000570164.1_Missense_Mutation_p.E452Q|C16orf58_ENST00000567994.1_Missense_Mutation_p.E409Q			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	454						integral to membrane		p.E454Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GCCCTCCACTCATCCACCTCT	0.607000													9	181					0	0	0.006214	0	0
CAPN9	10753	broad.mit.edu	37	1	230931001	230931001	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:230931001C>T	ENST00000354537.1	+	17	1967	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L	CAPN9_ENST00000271971.2_Silent_p.L655L|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Silent_p.L592L	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	655	Domain IV.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CCTCAACTGCCTGGTCCGGCT	0.597000													3	49					0	0	0.004672	0	0
MYL2	4633	broad.mit.edu	37	12	111352074	111352074	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr12:111352074C>T	ENST00000228841.8	-	4	237	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	MYL2_ENST00000548438.1_Missense_Mutation_p.E50K	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	64					cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	p.E64K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TCAATTTCTTCATTTTTCACG	0.468000													9	90					0	0	0.004482	0	0
LCTL	197021	broad.mit.edu	37	15	66850095	66850095	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr15:66850095G>A	ENST00000341509.5	-	8	1018	c.887C>T	c.(886-888)gCc>gTc	p.A296V	LCTL_ENST00000537670.1_Missense_Mutation_p.A123V	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	296					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAGTCACCGGCATAAATGGG	0.507000													5	297					0	0	0.000602	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													9	110					0	0	0.002450	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412632	105412632	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr14:105412632G>A	ENST00000333244.5	-	7	9275	c.9156C>T	c.(9154-9156)ccC>ccT	p.P3052P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3052						nucleus		p.P3052P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTCCCTCGGGAACGTGGC	0.607000													31	206					0	0	0.010818	0	0
HHLA2	11148	broad.mit.edu	37	3	108076844	108076844	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:108076844A>G	ENST00000357759.5	+	6	1253	c.839A>G	c.(838-840)aAt>aGt	p.N280S	HHLA2_ENST00000467562.1_Missense_Mutation_p.N216S|HHLA2_ENST00000491820.1_Missense_Mutation_p.N280S|HHLA2_ENST00000467761.1_Missense_Mutation_p.N280S|HHLA2_ENST00000489514.2_Missense_Mutation_p.N280S	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	280	Ig-like V-type 2.					integral to membrane		p.N280S(2)		endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCCTCACAAAATACAATTATC	0.378000													7	219					0	0	0.004482	0	0
TLR4	7099	broad.mit.edu	37	9	120475310	120475310	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr9:120475310G>C	ENST00000355622.6	+	3	1005	c.904G>C	c.(904-906)Gac>Cac	p.D302H	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.D262H	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	302					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGATATTATTGACTTATTTAA	0.348000													8	162					0	0	0.003080	0	0
C10orf12	26148	broad.mit.edu	37	10	98742267	98742267	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr10:98742267G>A	ENST00000286067.2	+	1	1227	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	374								p.D374N(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGTCAGTGAAGATGTCATTTC	0.517000													20	225					0	0	0.008871	0	0
SCRN1	9805	broad.mit.edu	37	7	30008662	30008662	+	Missense_Mutation	SNP	A	A	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr7:30008662A>G	ENST00000426154.1	-	2	198	c.22T>C	c.(22-24)Tac>Cac	p.Y8H	SCRN1_ENST00000242059.5_Missense_Mutation_p.Y8H|SCRN1_ENST00000494620.1_Intron|SCRN1_ENST00000409497.1_Missense_Mutation_p.Y8H|SCRN1_ENST00000409570.1_Missense_Mutation_p.Y8H	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	8					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.Y28H(2)|p.Y8H(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ACAAAACAGTAACTTGGAGGA	0.478000													22	38					0	0	0.012319	0	0
HTR1B	3351	broad.mit.edu	37	6	78172847	78172847	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr6:78172847C>A	ENST00000369947.2	-	1	643	c.274G>T	c.(274-276)Gcg>Tcg	p.A92S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	92					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	p.A92S(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	TCGGTGACCGCCAGAGAGGCG	0.597000													55	243					7.36392e-32	9.25211e-32	0.014410	1	0
GRIN2A	2903	broad.mit.edu	37	16	9858028	9858028	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr16:9858028C>A	ENST00000396573.2	-	14	3682	c.3373G>T	c.(3373-3375)Gag>Tag	p.E1125*	GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E968*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1125*|GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1125*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1125					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1125*(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAACCAGGCTCCTTCTCACCA	0.507000													33	370					1.42033e-22	1.72553e-22	0.004289	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	104					0	0	0.001984	0	0
STAG3	10734	broad.mit.edu	37	7	99796183	99796183	+	Missense_Mutation	SNP	G	G	A	rs149765159		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr7:99796183G>A	ENST00000426455.1	+	13	1737	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.A444T|STAG3_ENST00000394018.2_Missense_Mutation_p.A386T			Q9UJ98	STAG3_HUMAN	stromal antigen 3	444					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.A444T(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCTCTGCCGCAGGCGAATT	0.547000													30	159					0	0	0.006320	0	0
TBC1D23	55773	broad.mit.edu	37	3	100009497	100009497	+	Silent	SNP	T	T	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:100009497T>G	ENST00000394144.4	+	5	559	c.552T>G	c.(550-552)tcT>tcG	p.S184S	TBC1D23_ENST00000344949.5_Silent_p.S184S|TBC1D23_ENST00000475134.1_Silent_p.S47S|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	184	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.S184S(2)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AGCTTTGTTCTTATCTTGATA	0.363000													6	113					0	0	0.001168	0	0
CDK12	51755	broad.mit.edu	37	17	37619172	37619172	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr17:37619172C>T	ENST00000447079.4	+	1	881	c.848C>T	c.(847-849)tCg>tTg	p.S283L	CDK12_ENST00000430627.2_Missense_Mutation_p.S283L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	283					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.S283L(2)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAGGAGCCTTCGGCCTACCAG	0.552000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			13	149					0	0	0.002450	0	0
PDC	5132	broad.mit.edu	37	1	186413131	186413131	+	Nonsense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:186413131C>A	ENST00000391997.2	-	4	808	c.721G>T	c.(721-723)Gaa>Taa	p.E241*	PDC_ENST00000340129.5_Nonsense_Mutation_p.E241*|PDC_ENST00000497198.1_Nonsense_Mutation_p.E189*|PDC_ENST00000456239.2_Nonsense_Mutation_p.E189*	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	241					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity	p.E241*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TCTTCTTCTTCTATTTTGGTA	0.353000													8	221					0.000157383	0.000171373	0.003080	1	0
BDP1	55814	broad.mit.edu	37	5	70837459	70837459	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr5:70837459A>C	ENST00000358731.4	+	29	6464	c.6201A>C	c.(6199-6201)agA>agC	p.R2067S	BDP1_ENST00000380675.2_Missense_Mutation_p.R203S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2067					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.R2067S(2)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAAGTTCCAGAGAAGAAATAA	0.313000													34	120					0	0	0.003271	0	0
ADAM21	8747	broad.mit.edu	37	14	70924778	70924778	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr14:70924778G>C	ENST00000603540.1	+	2	820	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.E188Q	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	188					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.E188Q(4)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTTGGAATTTGAAGAGGCTGA	0.438000													13	124					0	0	0.001855	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													6	58					0	0	0.001168	0	0
LRP1B	53353	broad.mit.edu	37	2	141072616	141072616	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:141072616C>G	ENST00000389484.3	-	83	13664	c.12693G>C	c.(12691-12693)gaG>gaC	p.E4231D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4231	EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E4231D(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCACCTTTCTCATTTAAAA	0.383000										TSP Lung(27;0.18)			6	110					0	0	0.001168	0	0
FAM47C	442444	broad.mit.edu	37	X	37028695	37028695	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chrX:37028695C>G	ENST00000358047.3	+	1	2264	c.2212C>G	c.(2212-2214)Ctc>Gtc	p.L738V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	738								p.L738V(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTGTCCCATCTCCGCCCAGA	0.632000													6	79					0	0	0.001984	0	0
GGT1	2678	broad.mit.edu	37	22	25010819	25010819	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr22:25010819C>G	ENST00000400382.1	+	6	996	c.241C>G	c.(241-243)Cac>Gac	p.H81D	GGT1_ENST00000400380.1_Missense_Mutation_p.H81D|GGT1_ENST00000400383.1_Missense_Mutation_p.H81D|GGT1_ENST00000406383.2_Missense_Mutation_p.H81D|GGT1_ENST00000248923.4_Missense_Mutation_p.H81D			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	81					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	p.H81D(2)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CATGAATGCCCACAGCATGGG	0.622000													12	109					0	0	0.013537	0	0
MTTP	4547	broad.mit.edu	37	4	100532564	100532564	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr4:100532564T>C	ENST00000457717.1	+	15	2199	c.1943T>C	c.(1942-1944)cTg>cCg	p.L648P	MTTP_ENST00000265517.5_Missense_Mutation_p.L648P|MTTP_ENST00000511045.1_Missense_Mutation_p.L675P|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	648	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.L648P(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGAAGTAACCTGAACATCTTT	0.433000													104	185					0	0	0.014410	0	0
EZR	7430	broad.mit.edu	37	6	159191862	159191862	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr6:159191862G>A	ENST00000367075.3	-	10	1192	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	EZR_ENST00000392177.4_Missense_Mutation_p.R310C|EZR_ENST00000337147.7_Missense_Mutation_p.R342C	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	342	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TCCTTCTCGCGCATCATCTGC	0.542000			T	ROS1	NSCLC								4	145					0	0	0.000602	0	0
ZNF687	57592	broad.mit.edu	37	1	151260444	151260444	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:151260444C>G	ENST00000368879.2	+	2	1775	c.1677C>G	c.(1675-1677)atC>atG	p.I559M		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.I559M(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCATGCGCATCGAGGTCACCT	0.627000													63	112					0	0	0.014410	0	0
SMARCA4	6597	broad.mit.edu	37	19	11132627	11132627	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr19:11132627C>T	ENST00000358026.2	+	19	3127	c.2843C>T	c.(2842-2844)gCc>gTc	p.A948V	SMARCA4_ENST00000429416.3_Missense_Mutation_p.A948V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A948V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A948V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A948V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A948V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A948V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A948V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A948V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	948					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCACCCTTTGCCATGACCGGG	0.587000			"""F, N, Mis"""		NSCLC								4	132					0	0	0.009096	0	0
LRGUK	136332	broad.mit.edu	37	7	133943059	133943059	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr7:133943059C>T	ENST00000285928.2	+	19	2318	c.2249C>T	c.(2248-2250)cCg>cTg	p.P750L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	750							ATP binding|kinase activity	p.P750L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CGGTTCTGTCCGTGGTCAAAA	0.453000													11	153					0	0	0.013537	0	0
PPP1R10	5514	broad.mit.edu	37	6	30574350	30574350	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr6:30574350C>G	ENST00000376511.2	-	8	1081	c.529G>C	c.(529-531)Gag>Cag	p.E177Q		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	177	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	p.E177Q(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCCTTCACCTCTGTCAAAGGT	0.488000													11	171					0	0	0.008291	0	0
SEC61A1	29927	broad.mit.edu	37	3	127785935	127785935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:127785935C>T	ENST00000243253.3	+	9	1100	c.916C>T	c.(916-918)Caa>Taa	p.Q306*	SEC61A1_ENST00000424880.2_Nonsense_Mutation_p.Q186*|SEC61A1_ENST00000464451.1_Nonsense_Mutation_p.Q312*|SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	306					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	p.Q306*(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGTCATCTCCCAAATGCTCTC	0.527000													60	206					0	0	0.014410	0	0
ATP2B2	491	broad.mit.edu	37	3	10401606	10401606	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:10401606G>A	ENST00000397077.1	-	12	2301	c.1726C>T	c.(1726-1728)Cgc>Tgc	p.R576C	ATP2B2_ENST00000343816.4_Missense_Mutation_p.R607C|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R621C|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R621C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R576C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	621					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.R576C(2)|p.R621C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGTACATGCGGAAGCTCTCG	0.597000													64	117					0	0	0.014410	0	0
TULP3	7289	broad.mit.edu	37	12	3047432	3047432	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr12:3047432G>A	ENST00000448120.2	+	10	1227	c.1176G>A	c.(1174-1176)caG>caA	p.Q392Q	TULP3_ENST00000397132.2_Silent_p.Q392Q	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	392					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	p.Q392Q(1)		endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGAACTTCCAGATAGTCCACA	0.532000													5	123					0	0	0.001984	0	0
FBXO30	84085	broad.mit.edu	37	6	146126568	146126568	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr6:146126568G>A	ENST00000237281.4	-	2	1140	c.974C>T	c.(973-975)tCa>tTa	p.S325L		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	325							ubiquitin-protein ligase activity|zinc ion binding	p.S325L(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GGAAGGTTTTGAAGTGCCATC	0.428000													34	90					0	0	0.012213	0	0
HEY1	23462	broad.mit.edu	37	8	80677881	80677881	+	Nonsense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr8:80677881G>A	ENST00000337919.5	-	5	662	c.469C>T	c.(469-471)Cga>Tga	p.R157*	HEY1_ENST00000354724.3_Nonsense_Mutation_p.R153*|HEY1_ENST00000523976.1_Nonsense_Mutation_p.R63*|HEY1_ENST00000435063.2_5'UTR	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	153	Orange.				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R157*(1)|p.R153*(1)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GAAACCAGTCGAACTCGAAGC	0.582000			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	137					0	0	0.004482	0	0
MST1L	11223	broad.mit.edu	37	1	17084768	17084768	+	RNA	SNP	G	G	C	rs151331911	by1000genomes	TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:17084768G>C	ENST00000455405.2	-	0	248																											TAGAGACCCCGCGCAGAAATG	0.572000													3	32					0	0	0.009096	0	0
SF1	7536	broad.mit.edu	37	11	64534716	64534716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr11:64534716G>T	ENST00000377390.3	-	11	1687	c.1350C>A	c.(1348-1350)taC>taA	p.Y450*	SF1_ENST00000227503.9_Nonsense_Mutation_p.Y450*|SF1_ENST00000433274.2_Nonsense_Mutation_p.Y424*|SF1_ENST00000422298.2_Nonsense_Mutation_p.Y335*|SF1_ENST00000377387.1_Nonsense_Mutation_p.Y575*|SF1_ENST00000377394.3_Missense_Mutation_p.P452T|SF1_ENST00000334944.5_Nonsense_Mutation_p.Y450*	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	450	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	p.Y450*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TACTTCCCAGGTACTGATCTT	0.542000											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	140					2.48696e-23	3.04652e-23	0.003271	1	0
VAV2	7410	broad.mit.edu	37	9	136671295	136671295	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr9:136671295G>A	ENST00000371851.1	-	8	1054	c.729C>T	c.(727-729)atC>atT	p.I243I	VAV2_ENST00000406606.3_Silent_p.I243I|VAV2_ENST00000371850.3_Silent_p.I248I			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	248	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	p.I243I(1)|p.I248I(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GATGCACCTTGATCAGGTCCT	0.592000													4	35					0	0	0.009096	0	0
SNAP91	9892	broad.mit.edu	37	6	84270599	84270599	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr6:84270599C>G	ENST00000428679.2	-	27	3103	c.2510G>C	c.(2509-2511)gGa>gCa	p.G837A	SNAP91_ENST00000437520.1_Missense_Mutation_p.G530A|SNAP91_ENST00000521485.1_Missense_Mutation_p.G832A|SNAP91_ENST00000520213.1_Missense_Mutation_p.G530A|SNAP91_ENST00000439399.2_Missense_Mutation_p.G837A|SNAP91_ENST00000520302.1_Missense_Mutation_p.G807A|SNAP91_ENST00000195649.6_Missense_Mutation_p.G832A|SNAP91_ENST00000369694.2_Missense_Mutation_p.G837A|SNAP91_ENST00000521743.1_Missense_Mutation_p.G837A			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	837	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	p.G837A(4)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AAATCCTGCTCCAGGTTGTCC	0.418000													8	45					0	0	0.008291	0	0
GPM6B	2824	broad.mit.edu	37	X	13825830	13825830	+	Missense_Mutation	SNP	C	C	G	rs150832725	byFrequency	TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chrX:13825830C>G	ENST00000316715.4	-	2	557	c.120G>C	c.(118-120)aaG>aaC	p.K40N	GPM6B_ENST00000493677.1_Missense_Mutation_p.K14N|GPM6B_ENST00000355135.2_Missense_Mutation_p.K40N|GPM6B_ENST00000356942.5_Intron|GPM6B_ENST00000454189.2_Intron|GPM6B_ENST00000398361.3_Intron	NM_001001995.1	NP_001001995.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	20					cell differentiation|nervous system development	integral to membrane		p.K40N(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						ACTGGTGGTTCTTTGAGCCTG	0.512000													10	128					0	0	0.006214	0	0
SCTR	6344	broad.mit.edu	37	2	120209616	120209616	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:120209616G>C	ENST00000019103.5	-	9	1158	c.891C>G	c.(889-891)atC>atG	p.I297M		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	297					digestion|excretion	integral to plasma membrane	secretin receptor activity	p.I297M(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GACCACGAATGATCCACCAGA	0.597000													4	27					0	0	0.009096	0	0
SLC39A4	55630	broad.mit.edu	37	8	145640272	145640272	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr8:145640272C>T	ENST00000276833.5	-	4	1041	c.738G>A	c.(736-738)ctG>ctA	p.L246L	SLC39A4_ENST00000301305.3_Silent_p.L271L	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	271						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	p.L246L(1)|p.L271L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CCCTGGCACTCAGGCATACCT	0.672000													42	216					0	0	0.014410	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	80					0	0	0.000602	0	0
ARID2	196528	broad.mit.edu	37	12	46246594	46246594	+	Missense_Mutation	SNP	G	G	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr12:46246594G>C	ENST00000334344.6	+	15	4860	c.4688G>C	c.(4687-4689)aGc>aCc	p.S1563T	ARID2_ENST00000457135.1_Missense_Mutation_p.S171T|ARID2_ENST00000422737.1_Missense_Mutation_p.S1414T|ARID2_ENST00000444670.1_Missense_Mutation_p.S1173T|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1563					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S1563T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAGATCCAAGCACTGTAGCT	0.448000			"""N, S, F"""		hepatocellular carcinoma								4	95					0	0	0.009096	0	0
ARSI	340075	broad.mit.edu	37	5	149677361	149677361	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr5:149677361C>T	ENST00000328668.7	-	2	1705	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	376						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGCTGATGGCCGGCCACACG	0.637000													5	192					0	0	0.001168	0	0
GOLGA3	2802	broad.mit.edu	37	12	133381541	133381541	+	Missense_Mutation	SNP	A	A	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr12:133381541A>C	ENST00000204726.3	-	7	1916	c.1358T>G	c.(1357-1359)gTg>gGg	p.V453G	GOLGA3_ENST00000545875.1_Missense_Mutation_p.V453G|GOLGA3_ENST00000456883.2_Missense_Mutation_p.V453G|GOLGA3_ENST00000450791.2_Missense_Mutation_p.V453G|GOLGA3_ENST00000537452.1_Missense_Mutation_p.V453G	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	453					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGCACTCCACCTGCGCCTG	0.597000													7	27					0	0	0.007413	0	0
C20orf26	26074	broad.mit.edu	37	20	20322542	20322542	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr20:20322542C>T	ENST00000245957.5	+	26	3566	c.3490C>T	c.(3490-3492)Cgc>Tgc	p.R1164C	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1164								p.R1164C(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GAAAGAGTTACGCCAAATCTT	0.443000													21	60					0	0	0.010504	0	0
CNOT2	4848	broad.mit.edu	37	12	70704789	70704789	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr12:70704789G>A	ENST00000229195.3	+	3	742	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	CNOT2_ENST00000418359.3_Missense_Mutation_p.E55K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	55					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	p.E55K(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ACATCGGTCAGAAAAAGATGT	0.393000													4	112					0	0	0.001168	0	0
FAM47A	158724	broad.mit.edu	37	X	34150227	34150227	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chrX:34150227C>T	ENST00000346193.3	-	1	220	c.169G>A	c.(169-171)Gac>Aac	p.D57N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	57										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TAGCGGAAGTCGTCCATGCCC	0.562000													4	94					0	0	0.009096	0	0
ANKMY1	51281	broad.mit.edu	37	2	241451413	241451413	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:241451413G>A	ENST00000391987.1	-	11	2250	c.1884C>T	c.(1882-1884)gaC>gaT	p.D628D	ANKMY1_ENST00000406958.1_Silent_p.D389D|ANKMY1_ENST00000373318.2_Silent_p.D487D|ANKMY1_ENST00000403283.1_Silent_p.D566D|ANKMY1_ENST00000272972.3_Silent_p.D628D|ANKMY1_ENST00000373320.4_Silent_p.D398D|ANKMY1_ENST00000401804.1_Silent_p.D717D|ANKMY1_ENST00000361678.4_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	628							zinc ion binding	p.D628D(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGGCAGCAGGTCCAGCTGTG	0.672000													12	64					0	0	0.013537	0	0
NOL9	79707	broad.mit.edu	37	1	6610657	6610657	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:6610657T>A	ENST00000377705.5	-	2	447	c.415A>T	c.(415-417)Atc>Ttc	p.I139F		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	139					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	p.I139F(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ACACGACAGATCCCACTAAAA	0.403000													15	108					0	0	0.002450	0	0
TMEM163	81615	broad.mit.edu	37	2	135215671	135215671	+	Silent	SNP	C	C	G	rs17852356		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:135215671C>G	ENST00000281924.6	-	7	805	c.741G>C	c.(739-741)tcG>tcC	p.S247S		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	247						integral to membrane		p.S247S(1)		endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ACCAGACCGCCGAGTCATGCT	0.537000													7	207					0	0	0.003080	0	0
LMAN1L	79748	broad.mit.edu	37	15	75115013	75115013	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr15:75115013G>A	ENST00000309664.5	+	11	1301	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	LMAN1L_ENST00000379709.3_Missense_Mutation_p.G376R|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	388						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.G388R(2)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGCTCCATGGACAGTGGAC	0.607000													19	114					0	0	0.007413	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155932776	155932776	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:155932776C>A	ENST00000368316.1	-	12	1309	c.839G>T	c.(838-840)gGc>gTc	p.G280V	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.G307V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.G280V|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.G308V|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.G309V			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	308	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.G280V(2)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCGGGTGCTGCCAGGGCACAG	0.597000													23	151					9.95505e-16	1.17071e-15	0.014323	1	0
COG5	10466	broad.mit.edu	37	7	107013191	107013191	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr7:107013191G>A	ENST00000393603.2	-	8	1048	c.777C>T	c.(775-777)gtC>gtT	p.V259V	COG5_ENST00000347053.3_Silent_p.V259V|COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Silent_p.V259V	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	259					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.V259V(2)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GAGCTGTTCCGACTTGAGTTG	0.343000													15	82					0	0	0.003163	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													3	28					0	0	0.000602	0	0
ITGA8	8516	broad.mit.edu	37	10	15697389	15697389	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr10:15697389C>A	ENST00000378076.3	-	11	1318	c.965G>T	c.(964-966)gGa>gTa	p.G322V		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	322					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.G322V(2)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AACGGTATATCCAAAATAAGA	0.318000													14	120					4.3838e-07	4.84525e-07	0.001855	1	0
GATA3	2625	broad.mit.edu	37	10	8106012	8106012	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr10:8106012G>A	ENST00000379328.3	+	4	1403	c.835G>A	c.(835-837)Ggc>Agc	p.G279S	GATA3_ENST00000346208.3_Missense_Mutation_p.G278S|GATA3_ENST00000461472.1_Intron	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	278					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.G279S(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCGGCGAGATGGCACGGGACA	0.557000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						34	138					0	0	0.003271	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204410669	204410669	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:204410669T>C	ENST00000367187.3	-	22	3735	c.3179A>G	c.(3178-3180)aAt>aGt	p.N1060S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.N1032S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1060					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.N1060S(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGGACAGCATTGGAGTTGAA	0.507000													16	82					0	0	0.006122	0	0
PDS5B	23047	broad.mit.edu	37	13	33225967	33225967	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr13:33225967G>A	ENST00000315596.10	+	3	321	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	45					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.M45I(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTATGGATATGGACCAGGACT	0.318000													13	210					0	0	0.013537	0	0
DNAH3	55567	broad.mit.edu	37	16	20996932	20996932	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr16:20996932C>G	ENST00000261383.3	-	48	7131	c.7132G>C	c.(7132-7134)Gag>Cag	p.E2378Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2378					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E2378Q(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAGTGATCTCATCGTAGATT	0.443000													13	279					0	0	0.001855	0	0
PRKCG	5582	broad.mit.edu	37	19	54387495	54387495	+	Missense_Mutation	SNP	G	G	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr19:54387495G>T	ENST00000263431.3	+	3	565	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	PRKCG_ENST00000540413.1_Missense_Mutation_p.D95Y|PRKCG_ENST00000542049.1_Missense_Mutation_p.G19V|PRKCG_ENST00000536044.1_Missense_Mutation_p.D95Y	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	95					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.D95Y(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCCCCAGACGGACGTGAGTGC	0.582000													5	144					4.096e-09	4.704e-09	0.001168	1	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	21					0	0	0.000602	0	0
LCA5L	150082	broad.mit.edu	37	21	40778294	40778294	+	Silent	SNP	G	G	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr21:40778294G>T	ENST00000358268.2	-	10	2055	c.1527C>A	c.(1525-1527)ggC>ggA	p.G509G	WRB_ENST00000541890.1_Intron|LCA5L_ENST00000495240.1_5'UTR|LCA5L_ENST00000288350.3_Silent_p.G509G|LCA5L_ENST00000380671.2_Silent_p.G509G			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	509								p.G509G(4)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				AGGGAGCAGTGCCTTTGCCAA	0.453000													23	58					1.90627e-21	2.27822e-21	0.012319	1	0
ST18	9705	broad.mit.edu	37	8	53071617	53071617	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr8:53071617G>A	ENST00000276480.7	-	15	2330	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	549						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G549G(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGTGTGGGCGCCTGCACTAG	0.483000													57	198					0	0	0.014410	0	0
RCBTB2	1102	broad.mit.edu	37	13	49076005	49076005	+	Splice_Site	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr13:49076005C>T	ENST00000344532.3	-	12	1541		c.e12-1		RCBTB2_ENST00000544492.1_Splice_Site|RCBTB2_ENST00000430805.2_Splice_Site	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2								Ran guanyl-nucleotide exchange factor activity	p.?(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TCATCAGGTTCTAGGAGAATA	0.433000													4	63					0	0	0.009096	0	0
CUL9	23113	broad.mit.edu	37	6	43184061	43184061	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr6:43184061C>T	ENST00000252050.4	+	31	6186	c.6102C>T	c.(6100-6102)ggC>ggT	p.G2034G	CUL9_ENST00000354495.3_Silent_p.G1924G|CUL9_ENST00000372647.2_Silent_p.G2006G|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2034					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.G2034G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCCACTGGGGCGCTGAACAGC	0.597000													25	89					0	0	0.004656	0	0
MAN2A2	4122	broad.mit.edu	37	15	91449666	91449666	+	Silent	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr15:91449666C>G	ENST00000360468.3	+	5	792	c.774C>G	c.(772-774)tcC>tcG	p.S258S	MAN2A2_ENST00000559717.1_Silent_p.S258S	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	258					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.S258S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGGCCAATTCCCACTACTTTG	0.572000													23	105					0	0	0.002780	0	0
WDSUB1	151525	broad.mit.edu	37	2	160139521	160139521	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:160139521G>A	ENST00000409990.3	-	2	316	c.60C>T	c.(58-60)ttC>ttT	p.F20F	WDSUB1_ENST00000409124.1_Silent_p.F20F|WDSUB1_ENST00000358147.4_Silent_p.F20F|WDSUB1_ENST00000359774.4_Silent_p.F20F|WDSUB1_ENST00000392796.3_Silent_p.F20F	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	20						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.F20F(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GGGAAAAGGAGAAGGCACAGC	0.408000													4	144					0	0	0.009096	0	0
WWC1	23286	broad.mit.edu	37	5	167850949	167850949	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr5:167850949C>T	ENST00000265293.4	+	11	2188	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	WWC1_ENST00000521089.1_Silent_p.L562L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	562					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.L562L(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ATGCCTTCCTCAACTCCTTGG	0.587000													32	176					0	0	0.013726	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													6	73					0	0	0.001984	0	0
FAM19A4	151647	broad.mit.edu	37	3	68802078	68802078	+	Silent	SNP	G	G	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:68802078G>C	ENST00000295569.7	-	4	714	c.222C>G	c.(220-222)gtC>gtG	p.V74V		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	74						extracellular region		p.V74V(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AAGAGCACTTGACCGTTTGTG	0.537000													11	178					0	0	0.013537	0	0
MSC	9242	broad.mit.edu	37	8	72756065	72756065	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr8:72756065G>A	ENST00000325509.4	-	1	638	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	117					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			ATCCGGGCACGCTCACGGGCG	0.687000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	77					0	0	0.009096	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871633	15871633	+	RNA	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr19:15871633C>T	ENST00000595525.1	+	0	449				CYP4F24P_ENST00000587443.2_RNA																							ACCTGGGTCCCGCAGAGAAGG	0.552000													7	65					0	0	0.004482	0	0
OR51B5	282763	broad.mit.edu	37	11	5364346	5364346	+	Missense_Mutation	SNP	T	T	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr11:5364346T>A	ENST00000300773.2	-	1	463	c.409A>T	c.(409-411)Act>Tct	p.T137S	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T137S(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTACTCGAGTATTAGTAAGT	0.458000													34	87					0	0	0.013726	0	0
RAB7A	7879	broad.mit.edu	37	3	128514237	128514237	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:128514237G>A	ENST00000265062.3	+	2	273	c.27G>A	c.(25-27)ctG>ctA	p.L9L	RAB7A_ENST00000485280.1_Silent_p.L9L|RAB7A_ENST00000482525.1_Silent_p.L9L	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	9					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		AAGTGTTGCTGAAGGTTATCA	0.453000											OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	165					0	0	0.001168	0	0
MUC5B	727897	broad.mit.edu	37	11	1265999	1265999	+	Missense_Mutation	SNP	T	T	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr11:1265999T>C	ENST00000447027.1	+	31	7956	c.7898T>C	c.(7897-7899)cTt>cCt	p.L2633P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2630	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.L2630P(1)|p.L2609P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACGCACGCTTCCAGTGTGG	0.637000													5	100					0	0	0.001168	0	0
SPO11	23626	broad.mit.edu	37	20	55909089	55909089	+	Missense_Mutation	SNP	G	G	A	rs141106732		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr20:55909089G>A	ENST00000371263.3	+	5	557	c.448G>A	c.(448-450)Gtc>Atc	p.V150I	SPO11_ENST00000345868.4_Missense_Mutation_p.V112I|SPO11_ENST00000371260.4_Missense_Mutation_p.V112I	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	150					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	p.V150I(2)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CCAGACTGTCGTCGACAATAT	0.274000								Editing and processing nucleases					11	40					0	0	0.013537	0	0
MUC4	4585	broad.mit.edu	37	3	195505328	195505328	+	Splice_Site	SNP	T	T	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:195505328T>C	ENST00000463781.3	-	3	13250		c.e3-2		MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Splice_Site|MUC4_ENST00000475231.1_Splice_Site	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGTCATTCCTGGACACGTGA	0.512000													60	21					0	0	0.014410	0	0
OR1M1	125963	broad.mit.edu	37	19	9204692	9204692	+	Missense_Mutation	SNP	G	G	A	rs144608760		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr19:9204692G>A	ENST00000429566.3	+	1	838	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V258I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CACCATTGGCGTCTATCTGTG	0.557000													67	301					0	0	0.014410	0	0
MTMR4	9110	broad.mit.edu	37	17	56573109	56573109	+	Missense_Mutation	SNP	C	C	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr17:56573109C>A	ENST00000323456.5	-	16	2518	c.2394G>T	c.(2392-2394)atG>atT	p.M798I	MTMR4_ENST00000579925.1_Missense_Mutation_p.M741I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	798						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.M798I(2)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCACACCTAGCATGGAGTCTG	0.527000													57	209					1.27862e-28	1.59286e-28	0.014410	1	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								26	48					0	0	0.008361	0	0
SLC17A9	63910	broad.mit.edu	37	20	61588916	61588916	+	Silent	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr20:61588916C>G	ENST00000370349.3	+	4	567	c.363C>G	c.(361-363)ctC>ctG	p.L121L	SLC17A9_ENST00000370351.4_Silent_p.L127L|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	127					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CACGCATCCTCATGGGCTTGC	0.647000													3	82					0	0	0.004672	0	0
NPAP1	23742	broad.mit.edu	37	15	24922679	24922679	+	Silent	SNP	C	C	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr15:24922679C>T	ENST00000329468.2	+	1	2139	c.1665C>T	c.(1663-1665)tcC>tcT	p.S555S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S555S(1)									CAGTCATTTCCACTGTCACAA	0.488000													13	246					0	0	0.003163	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100466570	100466570	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr12:100466570G>A	ENST00000279907.7	-	12	1641	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R127C|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.R477C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	477								p.R477C(4)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GGGGAAGAACGACATTGTTCC	0.343000													22	90					0	0	0.003954	0	0
CDH6	1004	broad.mit.edu	37	5	31317961	31317961	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr5:31317961G>A	ENST00000265071.2	+	11	2077	c.1812G>A	c.(1810-1812)gcG>gcA	p.A604A	CDH6_ENST00000514738.1_Silent_p.A549A	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	604	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATGCGGAGGCGCTCATCCACC	0.582000													5	172					0	0	0.000602	0	0
TACR3	6870	broad.mit.edu	37	4	104640578	104640578	+	Silent	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr4:104640578G>A	ENST00000304883.2	-	1	395	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	85						integral to plasma membrane	tachykinin receptor activity	p.I85I(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACCAGAGCGCGATGCGCCAGG	0.647000													14	171					0	0	0.004007	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801620	140801620	+	Missense_Mutation	SNP	G	G	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr5:140801620G>A	ENST00000398587.2	+	1	859	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G276R|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.G276R(2)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAATCAACGGGGAAGTAAT	0.463000													68	356					0	0	0.014410	0	0
CCT4	10575	broad.mit.edu	37	2	62104098	62104098	+	Missense_Mutation	SNP	T	T	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:62104098T>G	ENST00000394440.3	-	7	1030	c.734A>C	c.(733-735)aAg>aCg	p.K245T	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000461540.2_5'UTR|CCT4_ENST00000544185.1_Missense_Mutation_p.K95T|CCT4_ENST00000538252.1_Missense_Mutation_p.K189T|CCT4_ENST00000544079.1_Missense_Mutation_p.K215T	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	245					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	p.K245T(2)		breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			AAGCCCAATCTTGGCCTTTTC	0.398000													28	238					0	0	0.010818	0	0
NAIF1	203245	broad.mit.edu	37	9	130829073	130829073	+	Missense_Mutation	SNP	C	C	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr9:130829073C>G	ENST00000373078.4	-	1	527	c.308G>C	c.(307-309)gGa>gCa	p.G103A		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	103	Gly-rich.				apoptosis|induction of apoptosis	nucleus		p.G103A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCCCCAGCTCCGTCCTCCTC	0.682000													7	60					0	0	0.006214	0	0
AGO1	26523	broad.mit.edu	37	1	36354044	36354045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:36354044_36354045insC	ENST00000373204.4	+	2	255_256	c.42_43insC	c.(40-45)ctccccfs	p.LP14fs	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GCGCTTACCTGCCCCCCCTGCA	0.569													7	118	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													15	387	---	---	---	---					
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)catfs	p.H352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505													24	441	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													10	215	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(256-261)gcggggfs	p.AG86fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554													17	995	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													20	592	---	---	---	---					
BRINP2	57795	broad.mit.edu	37	1	177250096	177250097	+	Frame_Shift_Ins	INS	-	-	C	rs142394323	by1000genomes	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:177250096_177250097insC	ENST00000361539.4	+	8	2096_2097	c.1784_1785insC	c.(1783-1785)gagfs	p.E595fs	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		595						extracellular region		p.S596fs*4(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCCTTTGGGGGCAGCCACTCTG	0.564													13	116	---	---	---	---					
TDRD5	163589	broad.mit.edu	37	1	179620101	179620102	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:179620101_179620102insT	ENST00000444136.1	+	12	2150_2151	c.1900_1901insT	c.(1900-1902)tttfs	p.F634fs	TDRD5_ENST00000294848.8_Frame_Shift_Ins_p.F634fs|TDRD5_ENST00000367614.1_Frame_Shift_Ins_p.F634fs	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	634					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AATCCTTAACATTTTTTTGTGT	0.411													10	1086	---	---	---	---					
GOLT1A	127845	broad.mit.edu	37	1	204170835	204170836	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr1:204170835_204170836insC	ENST00000308302.3	-	3	406_407	c.221_222insG	c.(220-222)ggtfs	p.G74fs		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	74					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CGATAACCACACCCCCCAGGAG	0.545													9	449	---	---	---	---					
KCNH7	90134	broad.mit.edu	37	2	163256860	163256861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:163256860_163256861insC	ENST00000332142.5	-	10	2344_2345	c.2245_2246insG	c.(2245-2247)aagfs	p.K749fs		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	749					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.A749fs*3(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCTTTACTTGCCCCCCGAAAG	0.485													7	287	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													13	813	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													11	107	---	---	---	---					
INPP5D	3635	broad.mit.edu	37	2	234072358	234072359	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:234072358_234072359insC	ENST00000359570.5	+	14	1210_1211	c.1210_1211insC	c.(1210-1212)cccfs	p.P404fs	INPP5D_ENST00000538935.1_Frame_Shift_Ins_p.P403fs|INPP5D_ENST00000455936.2_Frame_Shift_Ins_p.P168fs|INPP5D_ENST00000450745.1_Frame_Shift_Ins_p.P168fs			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	416					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGAAGGTAACGCCCCCCCTCCC	0.535													9	301	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	56	---	---	---	---					
MORC1	27136	broad.mit.edu	37	3	108819313	108819314	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:108819313_108819314insT	ENST00000232603.5	-	5	346_347	c.264_265insA	c.(262-267)aaggctfs	p.A89fs	MORC1_ENST00000483760.1_Frame_Shift_Ins_p.A89fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	89					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.R89W(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTGACAGCCGTTTTTTGGATC	0.406													7	859	---	---	---	---					
IGSF11	152404	broad.mit.edu	37	3	118647520	118647521	+	Frame_Shift_Ins	INS	-	-	G	rs145433873	byFrequency	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:118647520_118647521insG	ENST00000354673.2	-	5	636_637	c.256_257insC	c.(256-258)gttfs	p.V86fs	IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.V86fs|IGSF11_ENST00000491903.1_Frame_Shift_Ins_p.V87fs|IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.V86fs	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	87	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGGAACCGGGGGGCACCA	0.465													8	369	---	---	---	---					
FAM86JP	100125556	broad.mit.edu	37	3	125647339	125647339	+	RNA	DEL	C	C	-			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:125647339delC	ENST00000485843.1	+	0	484					NR_024251.1																						TGTTTCCAGGCCAGGCCAGGA	0.557													7	135	---	---	---	---					
ACAD11	84129	broad.mit.edu	37	3	132322085	132322086	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:132322085_132322086insT	ENST00000264990.6	-	13	2579_2580	c.1608_1609insA	c.(1606-1611)aaggtgfs	p.V537fs	ACAD11_ENST00000545291.1_Frame_Shift_Ins_p.V62fs|ACAD11_ENST00000355458.3_Frame_Shift_Ins_p.V537fs	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CTGCTCCACCATTTTTTGCCGT	0.376													7	748	---	---	---	---					
SAMD7	344658	broad.mit.edu	37	3	169646267	169646268	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr3:169646267_169646268insG	ENST00000428432.2	+	7	1331_1332	c.942_943insG	c.(940-945)atggggfs	p.MG314fs	SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	314										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGGTTACAATTGGGGGGAATCT	0.381													7	415	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-684)gccfs	p.A228fs	FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525													7	669	---	---	---	---					
EVC	2121	broad.mit.edu	37	4	5785361	5785362	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:5785361_5785362insC	ENST00000382674.2	+	12	1830_1831	c.1646_1647insC	c.(1645-1647)cccfs	p.P549fs	EVC_ENST00000264956.6_Frame_Shift_Ins_p.P549fs			P57679	EVC_HUMAN	Ellis van Creveld syndrome	549					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGACTGGCCTCCCCCCGGAAG	0.584													11	486	---	---	---	---					
KLF3	51274	broad.mit.edu	37	4	38691475	38691476	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:38691475_38691476insC	ENST00000261438.5	+	4	975_976	c.670_671insC	c.(670-672)cccfs	p.P224fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.P224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GAACTCAGTGTCCCCCCCGCAA	0.426													7	250	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													12	1064	---	---	---	---					
GAB1	2549	broad.mit.edu	37	4	144381536	144381537	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:144381536_144381537insC	ENST00000262995.4	+	9	2216_2217	c.1789_1790insC	c.(1789-1791)cccfs	p.P597fs	GAB1_ENST00000505913.1_Frame_Shift_Ins_p.P464fs|GAB1_ENST00000262994.4_Frame_Shift_Ins_p.P567fs	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	567					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GTTTCCCATGTCCCCCCGACCA	0.406													8	481	---	---	---	---					
TENM3	55714	broad.mit.edu	37	4	183609358	183609359	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:183609358_183609359insG	ENST00000511685.1	+	12	2198_2199	c.2075_2076insG	c.(2074-2076)aggfs	p.R692fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Ins_p.R692fs					teneurin transmembrane protein 3																		GGCGTTTGCATGGGGGGGACGT	0.589													7	337	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													10	252	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			7	1053	---	---	---	---					
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:32789822_32789823delGT	ENST00000326958.1	+	1	878_879	c.315_316delGT	c.(313-318)gggtfs	p.GC105fs	NPR3_ENST00000265074.8_3'UTR																							CTGATTTTGGGTGTGTGTGTGT	0.421													10	549	---	---	---	---					
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(928-933)atggggfs	p.MG310fs	SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	310					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TGGGTGTGATTGGGGGGCAGCT	0.520													14	737	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5895)accfs	p.T1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485													8	315	---	---	---	---					
GCNT4	51301	broad.mit.edu	37	5	74324982	74324983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:74324982_74324983insG	ENST00000322348.4	-	1	1741_1742	c.880_881insC	c.(880-882)taafs	p.*294fs		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	294					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.H294fs*2(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTGAATGTTATGGGGGGGTGCT	0.366													11	145	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													15	465	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													8	1220	---	---	---	---					
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C	rs144777273		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:142586762_142586763insC	ENST00000378004.3	+	21	2343_2344		c.e21-1		ARHGAP26_ENST00000274498.4_Splice_Site|ARHGAP26_ENST00000486650.1_Intron	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579													9	335	---	---	---	---					
STK10	6793	broad.mit.edu	37	5	171517344	171517345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:171517344_171517345insT	ENST00000176763.5	-	10	1919_1920	c.1576_1577insA	c.(1576-1578)cctfs	p.P526fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	526							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGCTTGAGGGTTTTTTTGTAC	0.515													9	818	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													7	215	---	---	---	---					
JARID2	3720	broad.mit.edu	37	6	15496635	15496636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:15496635_15496636insG	ENST00000341776.2	+	7	1423_1424	c.1179_1180insG	c.(1177-1182)ctggggfs	p.LG393fs	JARID2_ENST00000541660.1_Frame_Shift_Ins_p.LG355fs|JARID2_ENST00000397311.3_Frame_Shift_Ins_p.LG221fs	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	393					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.L393L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGCTATCCCTCGGGGGGGCGTC	0.574													7	99	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													14	1534	---	---	---	---					
MOG	4340	broad.mit.edu	37	6	29627216	29627217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:29627216_29627217insC	ENST00000376894.4	+	2	327_328	c.209_210insC	c.(208-210)cccfs	p.P70fs	MOG_ENST00000376917.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376888.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396701.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376898.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000494692.1_Frame_Shift_Ins_p.P70fs|MOG_ENST00000376902.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000396704.3_Frame_Shift_Ins_p.P70fs|MOG_ENST00000490427.1_Intron|MOG_ENST00000376891.4_Frame_Shift_Ins_p.P70fs|MOG_ENST00000533330.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000431798.2_Frame_Shift_Ins_p.P70fs|MOG_ENST00000416766.2_Frame_Shift_Ins_p.P70fs			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	70	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.F73fs*29(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGGTGGTACCGCCCCCCCTTCT	0.569													7	249	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													11	929	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													7	179	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													12	375	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014803	33014804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:33014803_33014804insC	ENST00000242209.4	+	3	546_547	c.377_378insC	c.(376-378)accfs	p.T126fs	FKBP9_ENST00000538443.1_5'UTR|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGGTGTGATCCCCCCCAATT	0.446													10	227	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								11	262	---	---	---	---					
SAMD9L	219285	broad.mit.edu	37	7	92761061	92761061	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:92761061delT	ENST00000318238.4	-	5	5440	c.4224delA	c.(4222-4224)aafs	p.K1408fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K1408fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K1408fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1408										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCGGAGTTGTTTTTTTAGCG	0.408													8	1175	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139791810	139791810	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:139791810delC	ENST00000397560.2	-	19	2622	c.2525delG	c.(2524-2526)atfs	p.S842fs		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		842					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATAATTCCTACTTTGTACCCT	0.448													53	115	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142479817	142479817	+	RNA	DEL	G	G	-			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:142479817delG	ENST00000603901.1	+	0	40					NR_001296.3																						TGCTTGTTAAGGATTTCTAAC	0.557													9	93	---	---	---	---					
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)ggtagcfs	p.S642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.500													9	917	---	---	---	---					
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr8:18413784_18413785insG	ENST00000440756.2	-	15	2970_2971	c.2868_2869insC	c.(2866-2871)ccacaafs	p.Q957fs	PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.480													8	774	---	---	---	---					
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1678-1683)gcccccfs	p.AP560fs	DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	560					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	380	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													10	248	---	---	---	---					
COL22A1	169044	broad.mit.edu	37	8	139809072	139809072	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr8:139809072delT	ENST00000303045.6	-	12	2032	c.1586delA	c.(1585-1587)agfs	p.K529fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	529	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)			9	804	---	---	---	---					
UBAP2	55833	broad.mit.edu	37	9	33923478	33923479	+	Splice_Site	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr9:33923478_33923479insG	ENST00000379238.1	-	25	2914		c.e25-2		UBAP2_ENST00000379235.1_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000449054.1_Splice_Site|UBAP2_ENST00000379239.4_Splice_Site|UBAP2_ENST00000360802.1_Splice_Site			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGGAGGGACCTGGGGGGGCAAG	0.594													8	261	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													12	345	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)ggcfs	p.G1911fs	TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475													12	429	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962451	21962452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:21962451_21962452insG	ENST00000377072.3	+	11	1572_1573	c.1224_1225insG	c.(1222-1227)gaggggfs	p.EG408fs	MLLT10_ENST00000307729.7_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000446906.2_Frame_Shift_Ins_p.EG408fs|MLLT10_ENST00000377059.3_Frame_Shift_Ins_p.EG408fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	408	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V411fs*3(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGCCAGGAAGGGGGGGTAAA	0.436			T	"""MLL, PICALM, CDK6"""	AL								10	450	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													7	258	---	---	---	---					
HECTD2	143279	broad.mit.edu	37	10	93272060	93272061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:93272060_93272061insC	ENST00000446394.1	+	22	2362_2363	c.2262_2263insC	c.(2260-2265)ctccccfs	p.LP754fs	HECTD2_ENST00000371667.1_Frame_Shift_Ins_p.LP400fs|HECTD2_ENST00000298068.5_Frame_Shift_Ins_p.LP750fs|HECTD2_ENST00000536715.1_Frame_Shift_Ins_p.LP339fs			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	750	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AACTTTGCCTTCCCCCCTACAA	0.356													14	519	---	---	---	---					
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:101816832_101816833insG	ENST00000370418.3	-	6	1199_1200	c.948_949insC	c.(946-951)ccaagafs	p.R317fs		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	317	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AACTCCTCTTCGGGGGGAAACT	0.470													7	497	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)ccaatgfs	p.M382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.490													8	269	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													13	190	---	---	---	---					
DMBT1	1755	broad.mit.edu	37	10	124399784	124399786	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:124399784_124399786delTCC	ENST00000368909.3	+	52	6890_6892	c.6784_6786delTCC	c.(6784-6786)del	p.S2264del	DMBT1_ENST00000330163.4_In_Frame_Del_p.S1636del|DMBT1_ENST00000359586.6_In_Frame_Del_p.S984del|DMBT1_ENST00000368956.2_In_Frame_Del_p.S1636del|DMBT1_ENST00000368955.3_In_Frame_Del_p.S2254del|DMBT1_ENST00000338354.3_In_Frame_Del_p.S2264del|DMBT1_ENST00000344338.3_In_Frame_Del_p.S2254del	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2264	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTTTTATACTTCCTCATCTTTCT	0.453													35	197	---	---	---	---					
LINC00959	387723	broad.mit.edu	37	10	131905959	131905960	+	RNA	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:131905959_131905960insG	ENST00000456581.1	-	0	114																											CTTTGCCTCCAGGGGGGGAAGG	0.530													11	125	---	---	---	---					
OR51E1	143503	broad.mit.edu	37	11	4674216	4674217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:4674216_4674217insG	ENST00000396952.5	+	2	1110_1111	c.460_461insG	c.(460-462)gggfs	p.G154fs	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A155fs*3(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGCA	0.559													14	895	---	---	---	---					
LOC643733	643733	broad.mit.edu	37	11	104778247	104778248	+	RNA	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:104778247_104778248insC	ENST00000532510.1	-	0	1184_1185																											TTCCACACATTCCCCCCAGGAT	0.505													8	220	---	---	---	---					
RDX	5962	broad.mit.edu	37	11	110104136	110104137	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:110104136_110104137insG	ENST00000343115.4	-	13	1731_1732	c.1412_1413insC	c.(1411-1413)cccfs	p.P471fs	RDX_ENST00000405097.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Frame_Shift_Ins_p.P335fs|RDX_ENST00000528498.1_Frame_Shift_Ins_p.P471fs|RDX_ENST00000528900.1_Frame_Shift_Ins_p.P124fs	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	471	Glu-rich.|Poly-Pro.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTGGAGGTGGAGGGGGGGCAGA	0.431													13	473	---	---	---	---					
TTC12	54970	broad.mit.edu	37	11	113210159	113210160	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:113210159_113210160insG	ENST00000393020.1	+	10	1194_1195	c.789_790insG	c.(787-792)gcggggfs	p.AG263fs	TTC12_ENST00000529221.1_Frame_Shift_Ins_p.AG263fs|TTC12_ENST00000483239.2_Frame_Shift_Ins_p.AG269fs|TTC12_ENST00000314756.3_Frame_Shift_Ins_p.AG263fs			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	263							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGTTCTATGCTGGGGGGATTGA	0.500													8	395	---	---	---	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:118629613_118629614insG	ENST00000264018.4	-	9	1170		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								7	208	---	---	---	---					
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639	byFrequency	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(301-306)ctttttfs	p.LF101fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													7	750	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													11	802	---	---	---	---					
ADAMTS8	11095	broad.mit.edu	37	11	130275723	130275724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:130275723_130275724insG	ENST00000257359.6	-	9	3105_3106	c.2399_2400insC	c.(2398-2400)caafs	p.Q800fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	800	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTTGACTTTTGGGGGGAAGAC	0.579													8	744	---	---	---	---					
JAM3	83700	broad.mit.edu	37	11	134018467	134018468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr11:134018467_134018468insG	ENST00000299106.4	+	7	897_898	c.738_739insG	c.(736-741)atggggfs	p.MG246fs	JAM3_ENST00000529443.2_Frame_Shift_Ins_p.MG291fs|JAM3_ENST00000441717.3_Frame_Shift_Ins_p.MG195fs			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	246					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTCT	0.485													9	229	---	---	---	---					
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-492)cggfs	p.R164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	164	Ig-like C2-type 1.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AAAAACATACAGGGGGGGAAGA	0.564													7	163	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													10	735	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													10	168	---	---	---	---					
KLHL42	57542	broad.mit.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1188)gggfs	p.G396fs		NM_020782.1	NP_065833.1			kelch-like family member 42																		ATCTACATCGTGGGGGGGTGTC	0.594													7	180	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													9	2544	---	---	---	---					
IKZF4	64375	broad.mit.edu	37	12	56429092	56429093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:56429092_56429093insG	ENST00000262032.5	+	12	2102_2103	c.1735_1736insG	c.(1735-1737)gggfs	p.G579fs	IKZF4_ENST00000547167.1_Frame_Shift_Ins_p.G579fs|IKZF4_ENST00000547791.1_Frame_Shift_Ins_p.G534fs|RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Frame_Shift_Ins_p.G477fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	579					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCACATTGTCCGGGGGGAGCAT	0.554													8	412	---	---	---	---					
STAT6	6778	broad.mit.edu	37	12	57499093	57499094	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:57499093_57499094insG	ENST00000300134.3	-	9	1166_1167	c.841_842insC	c.(841-843)ggtfs	p.G281fs	STAT6_ENST00000537215.2_Frame_Shift_Ins_p.G171fs|STAT6_ENST00000543873.2_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000556155.1_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000454075.3_Frame_Shift_Ins_p.G281fs|STAT6_ENST00000538913.2_Frame_Shift_Ins_p.G171fs	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTTCAGTACCTGGGGGGGCTGC	0.639													7	53	---	---	---	---					
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)gggfs	p.G272fs	GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs|GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599													11	345	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													10	231	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													17	376	---	---	---	---					
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs137853287		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cctgctfs	p.A769fs	ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD).|M -> R (in WD).|M -> V (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACAAAGAGCATGGGGGGCGTGT	0.520									Wilson disease				7	714	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													10	219	---	---	---	---					
WDR72	256764	broad.mit.edu	37	15	53908070	53908071	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr15:53908070_53908071insT	ENST00000396328.1	-	15	2571_2572	c.2332_2333insA	c.(2332-2334)gcafs	p.A778fs	WDR72_ENST00000557913.1_Frame_Shift_Ins_p.A775fs|WDR72_ENST00000559418.1_Frame_Shift_Ins_p.A788fs|WDR72_ENST00000360509.5_Frame_Shift_Ins_p.A778fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	778										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTAGGCTGCATTTTTTTGGAG	0.391													7	808	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													7	222	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													8	422	---	---	---	---					
ARHGAP17	55114	broad.mit.edu	37	16	24942179	24942180	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr16:24942179_24942180insG	ENST00000289968.6	-	19	2509_2510	c.2440_2441insC	c.(2440-2442)accfs	p.T814fs	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.T736fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		ACCAGGAGGTTGGGGGGGTGGG	0.574													7	122	---	---	---	---					
RBL2	5934	broad.mit.edu	37	16	53504347	53504348	+	Frame_Shift_Ins	INS	-	-	G	rs67487800		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr16:53504347_53504348insG	ENST00000262133.6	+	16	2435_2436	c.2298_2299insG	c.(2296-2301)gtggggfs	p.VG766fs	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	766	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGTCAATGTTGGGGGGCAGGC	0.480													7	267	---	---	---	---					
MT4	84560	broad.mit.edu	37	16	56602768	56602769	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr16:56602768_56602769insC	ENST00000219162.3	+	3	193_194	c.113_114insC	c.(112-114)tccfs	p.S38fs		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGCT	0.599													8	461	---	---	---	---					
MARVELD3	91862	broad.mit.edu	37	16	71668195	71668196	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr16:71668195_71668196insG	ENST00000268485.3	+	3	739_740	c.695_696insG	c.(694-696)tggfs	p.W232fs	MARVELD3_ENST00000567501.1_Frame_Shift_Ins_p.LG45fs|MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	232	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATCACCAGCTTGGGGGGCATTT	0.559													7	132	---	---	---	---					
TERF2IP	54386	broad.mit.edu	37	16	75690386	75690388	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr16:75690386_75690388delTCC	ENST00000300086.4	+	3	1174_1176	c.1077_1079delTCC	c.(1075-1080)tac>ta	p.YP359del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	359					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTGATGGATATCCCATTTGGTCC	0.453													8	391	---	---	---	---					
MYH3	4621	broad.mit.edu	37	17	10555835	10555836	+	Frame_Shift_Ins	INS	-	-	G	rs139160750		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr17:10555835_10555836insG	ENST00000583535.1	-	4	336_337	c.249_250insC	c.(247-252)ccagttfs	p.V84fs	MYH3_ENST00000226209.7_Frame_Shift_Ins_p.V84fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	84	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGTCGAACTTGGGGGGGTTCA	0.495													7	115	---	---	---	---					
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)gtafs	p.V521fs	HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000427275.2_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515													8	169	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													12	1073	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													15	1406	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000581110.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													9	298	---	---	---	---					
GRB2	2885	broad.mit.edu	37	17	73389642	73389643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr17:73389642_73389643insC	ENST00000392562.1	-	2	849_850	c.67_68insG	c.(67-69)catfs	p.H23fs	GRB2_ENST00000578961.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.H23fs			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	23	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CTTGAGGATGTCCCCCCTTTTG	0.530													7	729	---	---	---	---					
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)ccgctafs	p.L503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	507	---	---	---	---					
AXL	558	broad.mit.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(865-870)gtccccfs	p.VP289fs	AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs|AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649													13	156	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													12	691	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													7	261	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													8	134	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													7	300	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)gggfs	p.G122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564													10	410	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)ggtfs	p.G308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535													14	297	---	---	---	---					
TNS1	7145	broad.mit.edu	37	2	218713071	218713072	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr2:218713071_218713072insG	ENST00000171887.4	-	17	2245_2246	c.1793_1794insC	c.(1792-1794)cgcfs	p.R598fs	TNS1_ENST00000419504.1_Frame_Shift_Ins_p.R598fs|TNS1_ENST00000430930.1_Frame_Shift_Ins_p.R598fs	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	598						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GTGGCCAGGCTGGGTGGGGCCC	0.668													12	173	---	---	---	---					
DOK7	285489	broad.mit.edu	37	4	3494670	3494671	+	Frame_Shift_Ins	INS	-	-	A			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr4:3494670_3494671insA	ENST00000340083.5	+	7	1022_1023	c.957_958insA	c.(955-960)ccagccfs	p.A320fs	DOK7_ENST00000389653.2_Frame_Shift_Ins_p.A320fs|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	320	Ser-rich.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCACCCCCCAAGCCGCTGCG	0.688													7	11	---	---	---	---					
RAPGEF6	51735	broad.mit.edu	37	5	130815368	130815369	+	Frame_Shift_Ins	INS	-	-	T			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:130815368_130815369insT	ENST00000509018.1	-	16	2123_2124	c.1918_1919insA	c.(1918-1920)taafs	p.*640fs	RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.*355fs|RAPGEF6_ENST00000510071.1_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.*640fs|FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.*690fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.*640fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.*640fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	640					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATGGCGATTACTTTTTTTTTCA	0.366													10	290	---	---	---	---					
FAM53C	51307	broad.mit.edu	37	5	137680780	137680781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr5:137680780_137680781insG	ENST00000239906.5	+	4	831_832	c.403_404insG	c.(403-405)gccfs	p.A135fs	FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.A135fs	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	135										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGTGTGGCGGCCCGCCCCC	0.683													8	254	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82595145	82595146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:82595145_82595146insG	ENST00000423517.2	-	4	4295_4296	c.3958_3959insC	c.(3958-3960)gccfs	p.A1320fs	PCLO_ENST00000333891.8_Frame_Shift_Ins_p.A1320fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1259					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCTGTGGCTGTTCTTTTATT	0.406													10	243	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139791810	139791810	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:139791810delC	ENST00000397560.2	-	19	2622	c.2525delG	c.(2524-2526)atfs	p.S842fs		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		842					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATAATTCCTACTTTGTACCCT	0.448													39	70	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142479817	142479817	+	RNA	DEL	G	G	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr7:142479817delG	ENST00000603901.1	+	0	40					NR_001296.3																						TGCTTGTTAAGGATTTCTAAC	0.557													12	198	---	---	---	---					
DMBT1	1755	broad.mit.edu	37	10	124399784	124399786	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr10:124399784_124399786delTCC	ENST00000338354.3	+	52	6890_6892	c.6784_6786delTCC	c.(6784-6786)del	p.S2264del	DMBT1_ENST00000344338.3_In_Frame_Del_p.S2254del|DMBT1_ENST00000359586.6_In_Frame_Del_p.S984del|DMBT1_ENST00000368955.3_In_Frame_Del_p.S2254del|DMBT1_ENST00000330163.4_In_Frame_Del_p.S1636del|DMBT1_ENST00000368956.2_In_Frame_Del_p.S1636del|DMBT1_ENST00000368909.3_In_Frame_Del_p.S2264del			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2264	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTTTTATACTTCCTCATCTTTCT	0.453													53	148	---	---	---	---					
MIS18BP1	55320	broad.mit.edu	37	14	45693722	45693722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr14:45693722delT	ENST00000310806.4	-	11	2526	c.2068delA	c.(2068-2070)gtfs	p.S690fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	690					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTGATGGGACTTTTTTTTTGA	0.373													7	180	---	---	---	---					
MAGEL2	54551	broad.mit.edu	37	15	23890563	23890564	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr15:23890563_23890564insG	ENST00000532292.1	-	1	611_612	c.517_518insC	c.(517-519)gccfs	p.A173fs		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGTGGCAGGCAGGTTTTTCCAG	0.584													11	72	---	---	---	---					
SLC38A10	124565	broad.mit.edu	37	17	79225243	79225244	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr17:79225243_79225244insC	ENST00000288439.5	-	14	2459_2460	c.2114_2115insG	c.(2113-2115)accfs	p.T705fs	SLC38A10_ENST00000374759.3_Intron	NM_138570.2	NP_612637.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	487					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGGGGAGGGGGCTGCCGCTCCC	0.718													12	51	---	---	---	---					
RP11-683L23.1	0	broad.mit.edu	37	18	47893	47894	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr18:47893_47894insG	ENST00000573909.1	-	3	1261_1262	c.729_730insC	c.(727-732)gggccafs	p.P244fs	RP11-683L23.1_ENST00000308911.6_Frame_Shift_Ins_p.P278fs																							TACTGCTGGCTGCCCCGGCTGG	0.614													7	93	---	---	---	---					
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr19:1037646delC	ENST00000263097.4	+	7	1040	c.677delC	c.(676-678)acfs	p.T226fs	CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|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													9	403	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384616	31384617	+	Frame_Shift_Ins	INS	-	-	G	rs150851562	by1000genomes	TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chr20:31384616_31384617insG	ENST00000328111.2	+	13	1639_1640	c.1318_1319insG	c.(1318-1320)gaafs	p.E440fs	DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.E432fs|DNMT3B_ENST00000375623.4_Splice_Site|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.E344fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.E378fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.E420fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	440	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTTGTGGCAGGAAAAACCCC	0.559													7	297	---	---	---	---					
DNASE1L1	1774	broad.mit.edu	37	X	153631085	153631087	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	f4b8b2d5-acc7-4fd6-b852-c80fd79be99e	g.chrX:153631085_153631087delAGC	ENST00000369809.1	-	10	1499_1501	c.870_872delGCT	c.(868-873)cta>ct	p.LL290del	DNASE1L1_ENST00000393638.1_In_Frame_Del_p.LL290del	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	290					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGAGTGATAGCAGCAACAGAA	0.645													18	32	---	---	---	---					
ZSWIM6	57688	broad.mit.edu	37	5	60822215	60822215	+	Frame_Shift_Del	DEL	A	A	-			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr5:60822215delA	ENST00000252744.5	+	7	1829	c.1829delA	c.(1828-1830)cafs	p.Q610fs		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	610							zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						TTCCGAACCCAAAAAAAAGGT	0.408													3	5	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139791810	139791810	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr7:139791810delC	ENST00000397560.2	-	19	2622	c.2525delG	c.(2524-2526)atfs	p.S842fs		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		842					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATAATTCCTACTTTGTACCCT	0.448													53	115	---	---	---	---					
COL22A1	169044	broad.mit.edu	37	8	139809072	139809072	+	Frame_Shift_Del	DEL	T	T	-			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr8:139809072delT	ENST00000303045.6	-	12	2032	c.1586delA	c.(1585-1587)agfs	p.K529fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	529	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)			9	804	---	---	---	---					
DMBT1	1755	broad.mit.edu	37	10	124399784	124399786	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr10:124399784_124399786delTCC	ENST00000368909.3	+	52	6890_6892	c.6784_6786delTCC	c.(6784-6786)del	p.S2264del	DMBT1_ENST00000344338.3_In_Frame_Del_p.S2254del|DMBT1_ENST00000368956.2_In_Frame_Del_p.S1636del|DMBT1_ENST00000330163.4_In_Frame_Del_p.S1636del|DMBT1_ENST00000368955.3_In_Frame_Del_p.S2254del|DMBT1_ENST00000338354.3_In_Frame_Del_p.S2264del|DMBT1_ENST00000359586.6_In_Frame_Del_p.S984del	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2264	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTTTTATACTTCCTCATCTTTCT	0.453													35	197	---	---	---	---					
GVINP1	387751	broad.mit.edu	37	11	6738261	6738262	+	RNA	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr11:6738261_6738262insC	ENST00000526769.2	-	0	4942_4943																											AGCTGTAGCTTCCCCCACATTC	0.431													2	4	---	---	---	---					
GRB2	2885	broad.mit.edu	37	17	73389642	73389643	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02W-0928-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca0a00a4-4b48-4975-90aa-84e826a25b8e	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr17:73389642_73389643insC	ENST00000392562.1	-	2	849_850	c.67_68insG	c.(67-69)catfs	p.H23fs	GRB2_ENST00000578961.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316615.5_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392563.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000392564.1_Frame_Shift_Ins_p.H23fs|GRB2_ENST00000316804.5_Frame_Shift_Ins_p.H23fs			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	23	SH3 1.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CTTGAGGATGTCCCCCCTTTTG	0.530													7	729	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975806	152975829	+	In_Frame_Del	DEL	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	rs1970328	byFrequency	TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENST00000331860.3	+	3	460_483	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	c.(310-333)del	p.PGYTKVPE104del	SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del|SPRR3_ENST00000295367.4_In_Frame_Del_p.PGYTKVPE104del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	104	14 X 8 AA approximate tandem repeats.		Missing.		keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA	0.567													7	190	---	---	---	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cag>ca	p.QTG371del	PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	371						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													7	14	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													7	7	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389382	1389382	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr4:1389382delC	ENST00000324803.4	+	1	4043	c.1083delC	c.(1081-1083)tgfs	p.C361fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	361					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ATGTGGAGTGCCCGCCTGCTC	0.667													13	644	---	---	---	---					
TAPT1-AS1	202020	broad.mit.edu	37	4	16257860	16257860	+	RNA	DEL	T	T	-	rs146274448		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr4:16257860delT	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1																						AGGGTTTGTCTTTTTTTTTTT	0.383													2	4	---	---	---	---					
RP11-689K5.3	0	broad.mit.edu	37	4	82934174	82934174	+	RNA	DEL	G	G	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr4:82934174delG	ENST00000510780.1	-	0	244																											TAATCTTTGTGGGCCTTTAGC	0.398													2	4	---	---	---	---					
RP1-223B1.1	0	broad.mit.edu	37	6	3606702	3606703	+	RNA	DEL	AC	AC	-	rs57388752		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr6:3606702_3606703delAC	ENST00000443445.1	-	0	500																											Tcacacacagacacacacacac	0.584													3	6	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82595145	82595146	+	Frame_Shift_Ins	INS	-	-	G			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr7:82595145_82595146insG	ENST00000423517.2	-	4	4295_4296	c.3958_3959insC	c.(3958-3960)gccfs	p.A1320fs	PCLO_ENST00000333891.8_Frame_Shift_Ins_p.A1320fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1259					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCTGTGGCTGTTCTTTTATT	0.406													10	243	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139791810	139791810	+	Frame_Shift_Del	DEL	C	C	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr7:139791810delC	ENST00000397560.2	-	19	2622	c.2525delG	c.(2524-2526)atfs	p.S842fs		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		842					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATAATTCCTACTTTGTACCCT	0.448													39	70	---	---	---	---					
DMBT1	1755	broad.mit.edu	37	10	124399784	124399786	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr10:124399784_124399786delTCC	ENST00000368909.3	+	52	6890_6892	c.6784_6786delTCC	c.(6784-6786)del	p.S2264del	DMBT1_ENST00000344338.3_In_Frame_Del_p.S2254del|DMBT1_ENST00000368956.2_In_Frame_Del_p.S1636del|DMBT1_ENST00000338354.3_In_Frame_Del_p.S2264del|DMBT1_ENST00000368955.3_In_Frame_Del_p.S2254del|DMBT1_ENST00000359586.6_In_Frame_Del_p.S984del|DMBT1_ENST00000330163.4_In_Frame_Del_p.S1636del	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2264	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTTTTATACTTCCTCATCTTTCT	0.453													53	148	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													10	14	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													12	524	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32095553	32095553	+	RNA	DEL	G	G	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr16:32095553delG	ENST00000566806.1	-	0	499																											CTGGGGCCCCGAGGGAGATGT	0.642													3	6	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													7	81	---	---	---	---					
SLC38A10	124565	broad.mit.edu	37	17	79225243	79225244	+	Frame_Shift_Ins	INS	-	-	C			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr17:79225243_79225244insC	ENST00000288439.5	-	14	2459_2460	c.2114_2115insG	c.(2113-2115)accfs	p.T705fs	SLC38A10_ENST00000374759.3_Intron	NM_138570.2	NP_612637.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	487					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGGGGAGGGGGCTGCCGCTCCC	0.718													12	51	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42795823	42795824	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr19:42795823_42795824insCC	ENST00000572681.2	+	12	5607_5608	c.5539_5540insCC	c.(5539-5541)cggfs	p.R1847fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.R938fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.R938fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	938					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGTGGAGGGGCCGGCCAGCCA	0.693			"""Mis, F, S"""		oligodendroglioma								8	185	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)ggc>g	p.EG711del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557													9	296	---	---	---	---					
UBASH3A	53347	broad.mit.edu	37	21	43833208	43833208	+	Frame_Shift_Del	DEL	A	A	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chr21:43833208delA	ENST00000319294.6	+	4	461	c.430delA	c.(430-432)cgfs	p.T144fs	UBASH3A_ENST00000398367.1_Frame_Shift_Del_p.T144fs|UBASH3A_ENST00000291535.6_Frame_Shift_Del_p.T144fs	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	144						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTCCTTCCCCACGGCCGTGCC	0.612													7	303	---	---	---	---					
DNASE1L1	1774	broad.mit.edu	37	X	153631085	153631087	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-64-1680-01A-02D-0969-08	TCGA-64-1680-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b4cde89-2c2e-4ede-b48b-48d9e7423c45	edaa4952-3f3b-4b90-b5d8-a75e79aee588	g.chrX:153631085_153631087delAGC	ENST00000369809.1	-	10	1499_1501	c.870_872delGCT	c.(868-873)cta>ct	p.LL290del	DNASE1L1_ENST00000393638.1_In_Frame_Del_p.LL290del	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	290					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGAGTGATAGCAGCAACAGAA	0.645													18	32	---	---	---	---					
