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
TRPC5	7224	broad.mit.edu	37	X	111195420	111195420	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chrX:111195420C>A	ENST00000262839.2	-	2	1147	c.229G>T	c.(229-231)Gcc>Tcc	p.A77S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	77					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCTCAATGGCAATGAGCAGG	0.527000													26	39					2.85442e-18	3.2859e-18	0.010818	1	0
STK10	6793	broad.mit.edu	37	5	171534817	171534817	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:171534817T>C	ENST00000176763.5	-	5	903	c.560A>G	c.(559-561)cAg>cGg	p.Q187R		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	187	Protein kinase.						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)			ATCTCGTTTCTGTAGAGTCTT	0.498000											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	54					0	0	0.006122	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	by1000genomes	TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672000													5	82					0	0	0.008291	0	0
SIRPB2	284759	broad.mit.edu	37	20	1456848	1456848	+	Silent	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr20:1456848G>T	ENST00000359801.3	-	5	1029	c.993C>A	c.(991-993)gcC>gcA	p.A331A	SIRPB2_ENST00000444444.1_Silent_p.A233A	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	331						integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGGTGTTCATGGCTCCTGCTG	0.592000													36	109					3.21399e-22	3.74336e-22	0.021022	1	0
SMCHD1	23347	broad.mit.edu	37	18	2732451	2732451	+	Silent	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:2732451A>G	ENST00000320876.6	+	25	3575	c.3237A>G	c.(3235-3237)agA>agG	p.R1079R	SMCHD1_ENST00000261598.8_Silent_p.R1079R|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1079					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGGAGAAAGAGAAATCAATA	0.289000													6	28					0	0	0.021553	0	0
KCNE4	23704	broad.mit.edu	37	2	223917672	223917672	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:223917672G>T	ENST00000281830.3	+	2	608	c.277G>T	c.(277-279)Gtc>Ttc	p.V93F	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.V42F			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	42						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CATTCTGGTTGTCATGTCCTT	0.597000													24	82					2.98393e-07	3.19361e-07	0.016522	1	0
RBKS	64080	broad.mit.edu	37	2	28081341	28081341	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:28081341C>A	ENST00000302188.3	-	2	939	c.187G>T	c.(187-189)Gct>Tct	p.A63S	RBKS_ENST00000444339.2_Missense_Mutation_p.A63S	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	63					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					CCAAGCCGAGCAGCTTGGACA	0.438000													18	56					5.01169e-05	5.19537e-05	0.004990	1	0
CHAT	1103	broad.mit.edu	37	10	50833611	50833611	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:50833611T>C	ENST00000395562.2	+	7	1068	c.599T>C	c.(598-600)cTc>cCc	p.L200P	CHAT_ENST00000395559.2_Missense_Mutation_p.L164P|CHAT_ENST00000339797.1_Missense_Mutation_p.L164P|CHAT_ENST00000455728.2_Missense_Mutation_p.L164P|CHAT_ENST00000351556.3_Missense_Mutation_p.L164P|CHAT_ENST00000337653.2_Missense_Mutation_p.L282P	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	282					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCCTACCGGCTCCCCGGCCAT	0.592000													10	7					0	0	0.008291	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363000	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	62					0	0	0.024245	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000227	46000227	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr21:46000227C>T	ENST00000400372.1	-	1	254	c.229G>A	c.(229-231)Gct>Act	p.A77T	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	77	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						gcgcagcaagccggctggcag	0.677000													4	72					0	0	0.012319	0	0
CADPS2	93664	broad.mit.edu	37	7	122111562	122111562	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:122111562C>T	ENST00000334010.7	-	13	2477	c.2056G>A	c.(2056-2058)Ggt>Agt	p.G686S	CADPS2_ENST00000313070.7_Missense_Mutation_p.G682S|CADPS2_ENST00000449022.2_Missense_Mutation_p.G685S|CADPS2_ENST00000412584.2_Missense_Mutation_p.G682S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	685					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.G685C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CCTCTCACACCATAACGGGCA	0.418000													3	10					0	0	0.004672	0	0
HELQ	113510	broad.mit.edu	37	4	84368164	84368164	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:84368164T>C	ENST00000295488.3	-	4	1378	c.1216A>G	c.(1216-1218)Ata>Gta	p.I406V	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	406	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CCGAGTTCTATACCAAAACTT	0.373000								Other identified genes with known or suspected DNA repair function					9	25					0	0	0.004482	0	0
PAQR8	85315	broad.mit.edu	37	6	52268776	52268776	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:52268776C>T	ENST00000442253.2	+	2	939	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PAQR8_ENST00000360726.3_Silent_p.F255F	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	255					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCTCTTCTTCCTGGTTAGCG	0.577000													14	55					0	0	0.024245	0	0
MYO18A	399687	broad.mit.edu	37	17	27423781	27423781	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:27423781C>T	ENST00000527372.1	-	28	4563	c.4383G>A	c.(4381-4383)agG>agA	p.R1461R	MYO18A_ENST00000354329.4_Silent_p.R1461R|MYO18A_ENST00000531253.1_Silent_p.R1461R|MYO18A_ENST00000533112.1_Silent_p.R1461R	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1461					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCACCCACCTCCTCTGCTTCT	0.627000													3	10					0	0	0.009096	0	0
ASAP1	50807	broad.mit.edu	37	8	131130412	131130412	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:131130412T>G	ENST00000357668.1	-	19	1902	c.1875A>C	c.(1873-1875)caA>caC	p.Q625H	ASAP1_ENST00000518721.1_Missense_Mutation_p.Q625H			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	625					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GATACCAGTTTTGTACAAGGA	0.428000													34	42					0	0	0.007835	0	0
SNAP25	6616	broad.mit.edu	37	20	10256162	10256162	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr20:10256162G>A	ENST00000254976.2	+	2	234	c.23G>A	c.(22-24)cGc>cAc	p.R8H	SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.R8H	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	8	Interaction with CENPF (By similarity).				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GCAGACATGCGCAATGAGCTG	0.602000													7	25					0	0	0.008291	0	0
UTP20	27340	broad.mit.edu	37	12	101748816	101748816	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:101748816A>G	ENST00000261637.4	+	41	5488	c.5314A>G	c.(5314-5316)Ata>Gta	p.I1772V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1772					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAGGAAGAAATAGAGAGAAC	0.433000													8	47					0	0	0.004482	0	0
ABCB6	10058	broad.mit.edu	37	2	220080750	220080750	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:220080750G>A	ENST00000265316.3	-	5	1439	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	ABCB6_ENST00000439002.2_Missense_Mutation_p.R329W	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	375	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGTGCCCCGATCCGCGATC	0.687000													4	16					0	0	0.014758	0	0
CEP290	80184	broad.mit.edu	37	12	88480186	88480186	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:88480186T>C	ENST00000552810.1	-	33	4627	c.4284A>G	c.(4282-4284)atA>atG	p.I1428M	CEP290_ENST00000309041.7_Missense_Mutation_p.I1430M|CEP290_ENST00000547691.2_Missense_Mutation_p.I488M|CEP290_ENST00000397838.3_Missense_Mutation_p.I488M	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1428					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CCGCATTTAGTATTTCATTTT	0.363000													5	17					0	0	0.014758	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94897863	94897863	+	Splice_Site	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:94897863C>A	ENST00000289495.5	+	11	2817	c.2599_splice	c.e11-1	p.D867_splice	PPP1R9A_ENST00000424654.1_Splice_Site_p.D867_splice|PPP1R9A_ENST00000340694.4_Splice_Site_p.D867_splice|PPP1R9A_ENST00000433881.1_Splice_Site_p.D867_splice|PPP1R9A_ENST00000433360.1_Splice_Site_p.D889_splice|PPP1R9A_ENST00000456331.2_Splice_Site_p.D867_splice	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	867	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TATTCTTAGACTTGAATGAAG	0.443000										HNSCC(28;0.073)			25	48					1.42536e-11	1.57665e-11	0.024334	1	0
ALB	213	broad.mit.edu	37	4	74284002	74284002	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:74284002G>A	ENST00000295897.4	+	12	1715	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	ALB_ENST00000503124.1_Silent_p.E392E|ALB_ENST00000401494.3_Silent_p.E427E|ALB_ENST00000415165.2_Silent_p.E350E|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Silent_p.E542E	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	542	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CACTTTCTGAGAAGGAGAGAC	0.388000													12	51					0	0	0.013537	0	0
STK10	6793	broad.mit.edu	37	5	171520586	171520586	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:171520586C>T	ENST00000176763.5	-	9	1727	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	462							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)			AGCTTCTCCCCACCCAAGGTC	0.652000													23	96					0	0	0.012319	0	0
IFNA21	3452	broad.mit.edu	37	9	21166295	21166295	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr9:21166295T>G	ENST00000380225.1	-	1	364	c.317A>C	c.(316-318)gAa>gCa	p.E106A		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	106					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAAAATTTTTCTAGGAGGCT	0.498000													45	178					0	0	0.014410	0	0
CPN2	1370	broad.mit.edu	37	3	194061983	194061983	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:194061983G>A	ENST00000323830.3	-	2	1538	c.1449C>T	c.(1447-1449)taC>taT	p.Y483Y	CPN2_ENST00000429275.1_Silent_p.Y483Y	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	483					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CGGGGTTGCTGTAGGTGCACT	0.662000													19	37					0	0	0.008871	0	0
OSBPL6	114880	broad.mit.edu	37	2	179197685	179197685	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:179197685A>T	ENST00000190611.4	+	8	950	c.574A>T	c.(574-576)Aga>Tga	p.R192*	OSBPL6_ENST00000392505.2_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000359685.3_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000357080.4_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000315022.2_Nonsense_Mutation_p.R171*|OSBPL6_ENST00000409631.1_Nonsense_Mutation_p.R192*|OSBPL6_ENST00000409045.3_Nonsense_Mutation_p.R192*	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	192					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAGATCACCAAGAGATGCTAG	0.413000													25	71					0	0	0.018920	0	0
IMPDH1	3614	broad.mit.edu	37	7	128038619	128038619	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:128038619G>T	ENST00000338791.6	-	10	1273	c.923C>A	c.(922-924)gCc>gAc	p.A308D	IMPDH1_ENST00000480861.1_Missense_Mutation_p.A218D|IMPDH1_ENST00000348127.6_Missense_Mutation_p.A272D|IMPDH1_ENST00000419067.2_Missense_Mutation_p.A275D|IMPDH1_ENST00000470772.1_Missense_Mutation_p.A222D|IMPDH1_ENST00000378717.4_Missense_Mutation_p.A239D|IMPDH1_ENST00000354269.5_Missense_Mutation_p.A298D|IMPDH1_ENST00000343214.4_Missense_Mutation_p.A198D|IMPDH1_ENST00000496200.1_Missense_Mutation_p.A198D	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	223					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GTCGGTGCGGGCGATGATGGC	0.577000											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	111					1.06647e-15	1.22059e-15	0.017118	1	0
WDR19	57728	broad.mit.edu	37	4	39217514	39217514	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:39217514C>G	ENST00000399820.3	+	11	1169	c.1015C>G	c.(1015-1017)Caa>Gaa	p.Q339E	WDR19_ENST00000288634.7_Missense_Mutation_p.Q179E|WDR19_ENST00000506503.1_Missense_Mutation_p.Q339E	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	339					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						ACTCTCTACCCAAAGGGGCTC	0.448000													20	56					0	0	0.018920	0	0
PBOV1	59351	broad.mit.edu	37	6	138539373	138539373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:138539373G>A	ENST00000527246.2	-	1	254	c.160C>T	c.(160-162)Cga>Tga	p.R54*	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	54						cytoplasm|nucleus		p.R54*(2)		endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		TCTTTTTTTCGAAATACCTtg	0.393000													10	33					0	0	0.006214	0	0
PTX4	390667	broad.mit.edu	37	16	1538463	1538463	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:1538463C>T	ENST00000293922.1	-	1	5	c.6G>A	c.(4-6)ggG>ggA	p.G2G	PTX4_ENST00000447419.2_Intron|PTX4_ENST00000440447.2_Intron	NM_001013658.1	NP_001013680.1	Q96A99	PTX4_HUMAN	pentraxin 4, long	0			G -> E (in dbSNP:rs2745103).			extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						AGTTTCCACTCCCCATGACAC	0.652000													3	33					0	0	0.001984	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954990	10954990	+	Silent	SNP	G	G	A	rs141765045		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:10954990G>A	ENST00000240687.2	-	1	236	c.180C>T	c.(178-180)tgC>tgT	p.C60C		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	60					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						ATAGTATTACGCACAATAGAC	0.378000													26	64					0	0	0.024334	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	42					0	0	0.020292	0	0
CLEC16A	23274	broad.mit.edu	37	16	11114117	11114117	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:11114117G>A	ENST00000409790.1	+	12	1601	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E	CLEC16A_ENST00000409552.3_Silent_p.E439E	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	457								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCGTGCAGGAGCAGAACACCA	0.597000													11	28					0	0	0.010729	0	0
DCAF6	55827	broad.mit.edu	37	1	168014380	168014380	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:168014380G>A	ENST00000367840.3	+	16	2267	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	DCAF6_ENST00000312263.6_Missense_Mutation_p.D648N|DCAF6_ENST00000367843.3_Missense_Mutation_p.D668N|DCAF6_ENST00000432587.2_Missense_Mutation_p.D694N	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	648					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						ATCCACCAGGGACTCTGCTCT	0.483000													13	28					0	0	0.020292	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171774317	171774317	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:171774317C>T	ENST00000311601.5	-	11	1202	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q	SH3PXD2B_ENST00000519643.1_Silent_p.Q344Q	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	344					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGGGGGTCTCTGCCTCATCT	0.542000													11	79					0	0	0.020292	0	0
EP300	2033	broad.mit.edu	37	22	41566460	41566460	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr22:41566460A>G	ENST00000263253.7	+	27	5556	c.4337A>G	c.(4336-4338)tAt>tGt	p.Y1446C	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1446					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGAGATGATTATATCTTCCAT	0.408000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				52	72					0	0	0.014410	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33059296	33059296	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:33059296C>T	ENST00000373510.4	+	3	993	c.764C>T	c.(763-765)tCt>tTt	p.S255F	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.S255F|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GAAATGGACTCTACTCCTGTT	0.438000													16	45					0	0	0.006122	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258086	25258086	+	Silent	SNP	G	G	A	rs149172025	by1000genomes	TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:25258086G>A	ENST00000328086.7	-	5	2234	c.1431C>T	c.(1429-1431)atC>atT	p.I477I		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	477					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGATAAATTCGATGCCTATTT	0.448000													28	92					0	0	0.010818	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	46000228	46000228	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr21:46000228C>T	ENST00000400372.1	-	1	253	c.228G>A	c.(226-228)ccG>ccA	p.P76P	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	76	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						cgcagcaagccggctggcagc	0.677000													4	71					0	0	0.012319	0	0
LPP	4026	broad.mit.edu	37	3	188242516	188242516	+	Silent	SNP	T	T	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:188242516T>C	ENST00000312675.4	+	5	616	c.370T>C	c.(370-372)Ttg>Ctg	p.L124L	LPP_ENST00000448637.1_Silent_p.L124L|LPP_ENST00000543006.1_Silent_p.L124L	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	124	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GATTGACTCCTTGACCAGCAT	0.547000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								42	100					0	0	0.009718	0	0
GRM4	2914	broad.mit.edu	37	6	34029792	34029792	+	Silent	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:34029792G>T	ENST00000374181.3	-	3	919	c.750C>A	c.(748-750)atC>atA	p.I250I	GRM4_ENST00000374177.3_Silent_p.I181I|GRM4_ENST00000538487.1_Silent_p.I250I|GRM4_ENST00000535756.1_Silent_p.I117I|GRM4_ENST00000544773.1_Silent_p.I81I|GRM4_ENST00000455714.2_Silent_p.I110I|GRM4_ENST00000545715.1_5'UTR	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	250					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CCGACTGGGCGATGCACACGC	0.627000													26	28					1.66031e-10	1.82634e-10	0.021523	1	0
GCK	2645	broad.mit.edu	37	7	44187277	44187277	+	Missense_Mutation	SNP	C	C	T	rs104894005	byFrequency	TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:44187277C>T	ENST00000403799.3	-	7	1304	c.835G>A	c.(835-837)Gag>Aag	p.E279K	GCK_ENST00000395796.3_Missense_Mutation_p.E278K|GCK_ENST00000345378.2_Missense_Mutation_p.E280K|GCK_ENST00000437084.1_Missense_Mutation_p.E262K	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	279			E -> Q (in MODY2).		cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCAGAGCTCTCGTCCACCAGG	0.692000													23	62					0	0	0.027356	0	0
SLC15A3	51296	broad.mit.edu	37	11	60709581	60709581	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr11:60709581G>C	ENST00000227880.3	-	4	1266	c.1033C>G	c.(1033-1035)Cac>Gac	p.H345D		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	345					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						TTTGGGATGTGGAGGTGAAGA	0.577000													33	111					0	0	0.017118	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931233	144931233	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:144931233C>T	ENST00000529945.1	-	1	915	c.476G>A	c.(475-477)gGc>gAc	p.G159D	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G159D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTTCCAGGGCCTTCTGAACC	0.552000			T	PDGFRB	MPD								22	159					0	0	0.018920	0	0
CNNM2	54805	broad.mit.edu	37	10	104835934	104835934	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:104835934G>A	ENST00000369878.3	+	7	2449	c.2325G>A	c.(2323-2325)ctG>ctA	p.L775L	CNNM2_ENST00000457502.2_Silent_p.L533L|CNNM2_ENST00000433628.2_Silent_p.L753L|CNNM2_ENST00000475511.1_3'UTR	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	775					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CACCAACACTGGGGAGCAGCA	0.527000													3	12					0	0	0.004672	0	0
LTBP1	4052	broad.mit.edu	37	2	33540271	33540271	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:33540271A>G	ENST00000404816.2	+	24	4018	c.3665A>G	c.(3664-3666)gAg>gGg	p.E1222G	LTBP1_ENST00000404525.1_Missense_Mutation_p.E843G|LTBP1_ENST00000402934.1_Missense_Mutation_p.E843G|LTBP1_ENST00000390003.4_Missense_Mutation_p.E897G|LTBP1_ENST00000418533.2_Missense_Mutation_p.E896G|LTBP1_ENST00000407925.1_Missense_Mutation_p.E896G|LTBP1_ENST00000272273.5_Missense_Mutation_p.E162G|LTBP1_ENST00000354476.3_Missense_Mutation_p.E1223G			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1222	EGF-like 12; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTAAACACAGAGGGTTCTTTC	0.408000													11	44					0	0	0.010729	0	0
DNMT3B	1789	broad.mit.edu	37	20	31395666	31395666	+	Missense_Mutation	SNP	G	G	A	rs121908946		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr20:31395666G>A	ENST00000328111.2	+	23	2840	c.2519G>A	c.(2518-2520)cGa>cAa	p.R840Q	DNMT3B_ENST00000344505.4_Silent_p.P780P|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R715Q|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R832Q|DNMT3B_ENST00000456297.2_Missense_Mutation_p.R681Q|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R757Q|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R820Q	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	840			R -> Q (in ICF).		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						CCTGTCATCCGACACCTCTTC	0.602000													35	106					0	0	0.015359	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570458	47570458	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:47570458C>T	ENST00000253048.5	-	15	3104	c.3067G>A	c.(3067-3069)Gcc>Acc	p.A1023T	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1023							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGCTGCCGGGCGTTGGGGGGC	0.706000													13	24					0	0	0.028581	0	0
GNPTAB	79158	broad.mit.edu	37	12	102153816	102153816	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:102153816G>A	ENST00000299314.7	-	16	3503	c.3241C>T	c.(3241-3243)Ccc>Tcc	p.P1081S		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1081					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACCAGGTTGGGATCATAGTAG	0.388000													15	47					0	0	0.024245	0	0
CREBBP	1387	broad.mit.edu	37	16	3781253	3781253	+	Silent	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:3781253G>C	ENST00000262367.5	-	30	5921	c.5112C>G	c.(5110-5112)gtC>gtG	p.V1704V	CREBBP_ENST00000382070.3_Silent_p.V1666V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1704	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCAGGTGTAGACAAAGCGGT	0.662000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						13	57					0	0	0.020292	0	0
SLC3A1	6519	broad.mit.edu	37	2	44528282	44528282	+	Silent	SNP	T	T	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:44528282T>C	ENST00000410056.3	+	6	1152	c.1152T>C	c.(1150-1152)taT>taC	p.Y384Y	SLC3A1_ENST00000409387.1_Intron|SLC3A1_ENST00000409380.1_Intron|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000409741.1_Intron|SLC3A1_ENST00000260649.6_Intron|SLC3A1_ENST00000409229.3_Intron			Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	386					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	CCACGGCATATGCTCTCATTT	0.512000													6	31					0	0	0.021553	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94898583	94898583	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:94898583C>T	ENST00000289495.5	+	12	2984	c.2768C>T	c.(2767-2769)aCg>aTg	p.T923M	PPP1R9A_ENST00000424654.1_Missense_Mutation_p.T941M|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.T963M|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.T941M	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	923	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GGTTTGAGAACGTCTTCTCCA	0.433000										HNSCC(28;0.073)			18	32					0	0	0.010504	0	0
SLC6A13	6540	broad.mit.edu	37	12	330578	330578	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:330578G>A	ENST00000343164.4	-	14	1702	c.1650C>T	c.(1648-1650)ctC>ctT	p.L550L	SLC6A13_ENST00000445055.2_Silent_p.L458L	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	550					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGAGTCTGTAGAGGCTCCAGG	0.632000													8	15					0	0	0.004482	0	0
TRIM71	131405	broad.mit.edu	37	3	32931915	32931915	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:32931915A>C	ENST00000383763.4	+	4	1282	c.1219A>C	c.(1219-1221)Aac>Cac	p.N407H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	407					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGCGGCAAAACCTCAACAA	0.567000													27	83					0	0	0.024334	0	0
GRIK5	2901	broad.mit.edu	37	19	42546827	42546827	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:42546827C>T	ENST00000262895.3	-	11	1349	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	GRIK5_ENST00000301218.4_Missense_Mutation_p.M450I|GRIK5_ENST00000593562.1_Missense_Mutation_p.M450I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	450						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCTCCCGCAGCATGTCCACGC	0.677000													14	25					0	0	0.016723	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296440	145296440	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:145296440G>A	ENST00000342960.5	+	3	397	c.362G>A	c.(361-363)cGc>cAc	p.R121H	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	121								p.R121H(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGCCTCCCGCTCATTGTAT	0.562000													6	290					0	0	0.001984	0	0
TBC1D32	221322	broad.mit.edu	37	6	121600349	121600349	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:121600349C>A	ENST00000275159.6	-	15	1650	c.1651G>T	c.(1651-1653)Ggt>Tgt	p.G551C	TBC1D32_ENST00000398212.2_Missense_Mutation_p.G551C					TBC1 domain family, member 32																		GCCAAAATACCAGCTATATGA	0.323000													18	72					1.02788e-11	1.14338e-11	0.004990	1	0
KCNT2	343450	broad.mit.edu	37	1	196309633	196309633	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:196309633G>A	ENST00000367433.5	-	16	1722	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R491*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.R152*|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.R541*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	541	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATAATGTATCGAGGACCTGGA	0.323000													21	53					0	0	0.016522	0	0
DCHS1	8642	broad.mit.edu	37	11	6653621	6653621	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr11:6653621G>T	ENST00000299441.3	-	6	3533	c.3122C>A	c.(3121-3123)gCa>gAa	p.A1041E	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1041	Cadherin 10.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGCTACTTGCTCCCTCTGC	0.597000													15	38					2.23348e-06	2.35229e-06	0.028581	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215783	140215783	+	Silent	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:140215783G>T	ENST00000525929.1	+	1	1815	c.1815G>T	c.(1813-1815)gcG>gcT	p.A605A	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A605A|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACAACGCGTGGCTTTCGT	0.637000													31	83					5.60225e-13	6.33854e-13	0.009535	1	0
MARS2	92935	broad.mit.edu	37	2	198571571	198571571	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:198571571G>A	ENST00000282276.6	+	1	1485	c.1442G>A	c.(1441-1443)cGg>cAg	p.R481Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	481					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AGCTGTGTCCGGCAAACTAAT	0.542000													32	104					0	0	0.008361	0	0
METTL21C	196541	broad.mit.edu	37	13	103343240	103343240	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr13:103343240C>T	ENST00000267273.6	-	2	210	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	69							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CGATAATGCTCCTGAGTGTAG	0.448000													25	56					0	0	0.027356	0	0
ZNF443	10224	broad.mit.edu	37	19	12541096	12541096	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:12541096G>A	ENST00000301547.5	-	4	2087	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	630					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GTCTATGCAAGGAACTGAGAG	0.403000													22	96					0	0	0.010818	0	0
FAM184A	79632	broad.mit.edu	37	6	119341157	119341157	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:119341157G>T	ENST00000338891.7	-	4	1761	c.1318C>A	c.(1318-1320)Cta>Ata	p.L440I	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.L320I|FAM184A_ENST00000522284.1_Missense_Mutation_p.L320I|FAM184A_ENST00000352896.5_Missense_Mutation_p.L320I|FAM184A_ENST00000521531.1_Missense_Mutation_p.L440I	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	440										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCCAGTTCTAGAATCTGTTGC	0.388000													25	58					3.65163e-15	4.1553e-15	0.006320	1	0
PUS7	54517	broad.mit.edu	37	7	105099648	105099648	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:105099648G>A	ENST00000356362.2	-	15	2030	c.1816C>T	c.(1816-1818)Cta>Tta	p.L606L	PUS7_ENST00000469408.1_Silent_p.L606L	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	606					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTCCCTTCTAGGTTGTCCACA	0.348000													14	41					0	0	0.024245	0	0
PDGFRA	5156	broad.mit.edu	37	4	55141026	55141026	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:55141026C>T	ENST00000257290.5	+	12	2003	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	558					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTATGAAATTCGCTGGAGGGT	0.463000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			22	50					0	0	0.016522	0	0
FES	2242	broad.mit.edu	37	15	91433462	91433462	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:91433462C>T	ENST00000328850.3	+	9	1332	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	FES_ENST00000450438.2_Missense_Mutation_p.P339L|FES_ENST00000414248.2_Missense_Mutation_p.P339L|FES_ENST00000394302.1_Missense_Mutation_p.P339L|FES_ENST00000448367.1_3'UTR|FES_ENST00000444422.2_Missense_Mutation_p.P397L|FES_ENST00000394300.3_Missense_Mutation_p.P339L	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	397					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCGAGCCCCCGCCTGTGCTG	0.726000													11	22					0	0	0.016723	0	0
MARK1	4139	broad.mit.edu	37	1	220805593	220805593	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:220805593A>G	ENST00000402574.1	+	11	1657	c.655A>G	c.(655-657)Ata>Gta	p.I219V	MARK1_ENST00000366917.4_Missense_Mutation_p.I354V|MARK1_ENST00000366918.4_Missense_Mutation_p.I332V	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	354	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGATGCCTTAATAAATCAGAA	0.299000													70	218					0	0	0.014410	0	0
SH2D4B	387694	broad.mit.edu	37	10	82403807	82403807	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:82403807A>C	ENST00000470604.2	+	8	1262	c.1262A>C	c.(1261-1263)gAc>gCc	p.D421A	SH2D4B_ENST00000339284.2_Silent_p.G348G|SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000313455.4_Silent_p.G300G			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	421										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGACAGAGGGACAGCCCACCA	0.373000													9	36					0	0	0.016723	0	0
B3GNT7	93010	broad.mit.edu	37	2	232262638	232262638	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:232262638G>T	ENST00000287590.5	+	2	469	c.208G>T	c.(208-210)Gcg>Tcg	p.A70S	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	70					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		AGATGTGGCTGCGCCCACGCC	0.617000													10	35					2.17888e-05	2.27062e-05	0.006214	1	0
DHX15	1665	broad.mit.edu	37	4	24550530	24550530	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:24550530C>T	ENST00000336812.4	-	6	1352	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	399	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CTCAAAAATGCGTTGCTGCTG	0.363000													11	37					0	0	0.008291	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													8	67					0	0	0.006214	0	0
GOLGA1	2800	broad.mit.edu	37	9	127650556	127650556	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr9:127650556C>A	ENST00000373555.4	-	19	2214	c.1881G>T	c.(1879-1881)gaG>gaT	p.E627D		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	627						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAAGTTGCTGCTCCAAGTCCT	0.512000													41	250					1.48646e-12	1.67227e-12	0.010771	1	0
CD226	10666	broad.mit.edu	37	18	67563082	67563082	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:67563082T>A	ENST00000280200.4	-	4	850	c.582A>T	c.(580-582)caA>caT	p.Q194H	CD226_ENST00000577287.1_Missense_Mutation_p.Q39H|CD226_ENST00000582621.1_Missense_Mutation_p.Q194H|CD226_ENST00000581982.1_Missense_Mutation_p.Q39H	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	194	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TGCTCACTATTTGTCTTGGGA	0.542000													41	75					0	0	0.009718	0	0
NACAP1	83955	broad.mit.edu	37	8	102381119	102381119	+	RNA	SNP	T	T	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:102381119T>A	ENST00000419462.1	+	0	531					NR_002182.1																						CCATCTTGATTCCACGTTCCC	0.547000													5	16					0	0	0.014758	0	0
ACAN	176	broad.mit.edu	37	15	89398654	89398654	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:89398654C>T	ENST00000439576.2	+	12	3212	c.2838C>T	c.(2836-2838)ggC>ggT	p.G946G	ACAN_ENST00000352105.7_Silent_p.G946G|ACAN_ENST00000561243.1_Silent_p.G946G|ACAN_ENST00000559004.1_Silent_p.G946G	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	946					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCCTAGAGGGCTCTGCCTCTG	0.557000													21	63					0	0	0.010504	0	0
WASF3	10810	broad.mit.edu	37	13	27257005	27257005	+	Silent	SNP	G	G	A	rs148684191		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr13:27257005G>A	ENST00000361042.4	+	9	1461	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	WASF3_ENST00000335327.5_Silent_p.S415S			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	415					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTTCTCTTTCGTCCTCCCCAA	0.677000													27	91					0	0	0.024334	0	0
CPT2	1376	broad.mit.edu	37	1	53675843	53675843	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:53675843T>A	ENST00000371486.3	+	4	1012	c.497T>A	c.(496-498)cTc>cAc	p.L166H		NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	166					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CTGAAGACACTCCGGGCTGGC	0.493000													21	51					0	0	0.014323	0	0
TAP2	6891	broad.mit.edu	37	6	32782192	32782192	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:32782192G>A	ENST00000452392.2	-	14	2542	c.2369C>T	c.(2368-2370)aCt>aTt	p.T790I	HLA-DOB_ENST00000438763.2_Missense_Mutation_p.T183I			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CATCACCACAGTCTGAAAGGT	0.532000													33	88					0	0	0.017118	0	0
FAM83B	222584	broad.mit.edu	37	6	54735396	54735396	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:54735396G>A	ENST00000306858.7	+	2	468	c.352G>A	c.(352-354)Ggc>Agc	p.G118S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	118										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTCTTAGGGGGCACCCATAT	0.433000													32	93					0	0	0.013726	0	0
EPHA8	2046	broad.mit.edu	37	1	22923821	22923821	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:22923821C>T	ENST00000166244.3	+	10	1854	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	594						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACCTGTCTTCCTGCCTCTGC	0.657000													15	48					0	0	0.020292	0	0
OR2L13	284521	broad.mit.edu	37	1	248262997	248262997	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:248262997C>T	ENST00000366478.2	+	3	657	c.320C>T	c.(319-321)gCg>gTg	p.A107V	OR2L13_ENST00000358120.2_Missense_Mutation_p.A107V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.A107V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTGACCATGGCGTGTTCTGAA	0.517000													66	224					0	0	0.014410	0	0
ZNF460	10794	broad.mit.edu	37	19	57803220	57803220	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:57803220G>T	ENST00000360338.3	+	3	1633	c.1311G>T	c.(1309-1311)agG>agT	p.R437S	ZNF460_ENST00000537645.1_Missense_Mutation_p.R396S	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R437S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCTCACAAGGCACCAGTGGA	0.478000													17	48					1.99824e-07	2.15028e-07	0.004990	1	0
RAB40C	57799	broad.mit.edu	37	16	640410	640410	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:640410A>G	ENST00000535977.1	+	2	341	c.119A>G	c.(118-120)gAg>gGg	p.E40G	RAB40C_ENST00000248139.3_Missense_Mutation_p.E40G|RAB40C_ENST00000539661.1_Missense_Mutation_p.E40G|RAB40C_ENST00000538492.1_Missense_Mutation_p.E40G	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	40					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GGCGCGGCAGAGTCCCCGTAC	0.716000													7	24					0	0	0.001984	0	0
LIN28B	389421	broad.mit.edu	37	6	105406144	105406144	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:105406144G>A	ENST00000345080.4	+	2	384	c.181G>A	c.(181-183)Gat>Aat	p.D61N		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	61	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				TATTCCAGTCGATGTATTTGT	0.458000													39	114					0	0	0.027894	0	0
DOCK1	1793	broad.mit.edu	37	10	129216755	129216755	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:129216755A>T	ENST00000280333.6	+	45	4688	c.4579A>T	c.(4579-4581)Aac>Tac	p.N1527Y		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1527	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CATGCTCCTGAACGGCATCGT	0.602000													7	26					0	0	0.004482	0	0
IGSF9	57549	broad.mit.edu	37	1	159907550	159907550	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:159907550C>T	ENST00000368094.1	-	4	523	c.326G>A	c.(325-327)cGc>cAc	p.R109H	IGSF9_ENST00000361509.3_Missense_Mutation_p.R109H	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	109	Ig-like 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAAGAACACGCGGCACTCGTA	0.602000													18	60					0	0	0.007413	0	0
MIB1	57534	broad.mit.edu	37	18	19379870	19379870	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:19379870G>C	ENST00000261537.6	+	9	1570	c.1306G>C	c.(1306-1308)Gtt>Ctt	p.V436L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	436					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGAAGAATTAGTTAAGGCTGC	0.348000													21	55					0	0	0.012319	0	0
SERPINE2	5270	broad.mit.edu	37	2	224866605	224866605	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:224866605G>A	ENST00000409840.3	-	3	673	c.13C>T	c.(13-15)Ctc>Ttc	p.L5F	SERPINE2_ENST00000409304.1_Missense_Mutation_p.L5F|SERPINE2_ENST00000447280.2_Missense_Mutation_p.L17F|SERPINE2_ENST00000258405.4_Missense_Mutation_p.L5F			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	5					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		AAGAGGGGGAGATGCCAGTTC	0.443000													33	66					0	0	0.013726	0	0
ERBB4	2066	broad.mit.edu	37	2	212295727	212295727	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:212295727A>C	ENST00000342788.4	-	21	2896	c.2586T>G	c.(2584-2586)ttT>ttG	p.F862L	ERBB4_ENST00000402597.1_Missense_Mutation_p.F852L|ERBB4_ENST00000436443.1_Missense_Mutation_p.F862L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	862	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGGCTAGCCCAAAATCTGTGA	0.418000										TSP Lung(8;0.080)			3	104					0	0	0.004672	0	0
CARD11	84433	broad.mit.edu	37	7	2946386	2946386	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:2946386G>A	ENST00000396946.4	-	25	3754	c.3351C>T	c.(3349-3351)taC>taT	p.Y1117Y		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1117	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.Y1110Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCACCGTGGCGTACAGGCACG	0.647000			Mis		DLBCL								9	30					0	0	0.006214	0	0
ZNF99	7652	broad.mit.edu	37	19	22941426	22941426	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:22941426C>T	ENST00000397104.3	-	5	1011	c.1012G>A	c.(1012-1014)Gaa>Aaa	p.E338K	ZNF99_ENST00000596209.1_Missense_Mutation_p.E429K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCCACATTCTTCACATTTG	0.373000													13	47					0	0	0.016723	0	0
GEMIN4	50628	broad.mit.edu	37	17	649755	649755	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:649755C>T	ENST00000576778.1	-	1	2836	c.1495G>A	c.(1495-1497)Ggc>Agc	p.G499S	GEMIN4_ENST00000319004.5_Missense_Mutation_p.G510S			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	510					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCAGAGAGGCCCTTTCGCCCC	0.527000													14	25					0	0	0.028581	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621833	65621833	+	Silent	SNP	T	T	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:65621833T>G	ENST00000327987.4	-	13	2351	c.2100A>C	c.(2098-2100)ggA>ggC	p.G700G		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	700										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCCCGCTGTCCCCGTCTCG	0.647000													33	59					0	0	0.013726	0	0
TRPV4	59341	broad.mit.edu	37	12	110240837	110240837	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:110240837C>A	ENST00000418703.2	-	3	765	c.671G>T	c.(670-672)aGg>aTg	p.R224M	TRPV4_ENST00000261740.2_Missense_Mutation_p.R224M|TRPV4_ENST00000346520.2_Missense_Mutation_p.R224M|TRPV4_ENST00000536838.1_Missense_Mutation_p.R190M|TRPV4_ENST00000537083.1_Missense_Mutation_p.R224M|TRPV4_ENST00000392719.2_Missense_Mutation_p.R224M|TRPV4_ENST00000544971.1_Missense_Mutation_p.R224M|TRPV4_ENST00000541794.1_Missense_Mutation_p.R224M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	224					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AATGAACTCCCTCATGTTGCC	0.632000													15	29					4.7546e-09	5.17259e-09	0.028581	1	0
ASAH2B	653308	broad.mit.edu	37	10	52502706	52502706	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:52502706A>G	ENST00000374006.1	+	2	87	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	ASAH2B_ENST00000185907.9_5'UTR|ASAH2B_ENST00000374007.1_5'UTR|ASAH2B_ENST00000483649.1_3'UTR	NM_001079516.1	NP_001072984.1	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2B	0					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(2)|lung(2)	4						TCGACAATTTATGGACCGCAC	0.448000													58	176					0	0	0.014410	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													9	78					0	0	0.013537	0	0
ATRIP	84126	broad.mit.edu	37	3	48501802	48501802	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:48501802C>T	ENST00000412052.1	+	8	1532	c.1070C>T	c.(1069-1071)cCg>cTg	p.P357L	ATRIP_ENST00000357105.6_Missense_Mutation_p.P323L|ATRIP_ENST00000346691.4_Missense_Mutation_p.P450L|ATRIP_ENST00000320211.3_Missense_Mutation_p.P450L	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	450					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGGACTCACCGACACATTCC	0.562000								Other conserved DNA damage response genes					15	59					0	0	0.020292	0	0
SETD2	29072	broad.mit.edu	37	3	47163558	47163558	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:47163558G>A	ENST00000409792.3	-	3	2610	c.2568C>T	c.(2566-2568)atC>atT	p.I856I		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	856					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TAGTGCTACCGATGCTCTGCT	0.358000			"""N, F, S, Mis"""		clear cell renal carcinoma								13	42					0	0	0.024245	0	0
SPPL3	121665	broad.mit.edu	37	12	121206162	121206162	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:121206162G>C	ENST00000353487.2	-	8	1242	c.739C>G	c.(739-741)Cgc>Ggc	p.R247G		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	248						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAGACAGGCGAGGAACATCA	0.562000													26	99					0	0	0.027356	0	0
GPAA1	8733	broad.mit.edu	37	8	145139718	145139718	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:145139718C>T	ENST00000355091.4	+	8	1225	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	GPAA1_ENST00000361036.6_Silent_p.F308F	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	368					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCCGCTTCGTCTCCATCG	0.607000													83	93					0	0	0.014410	0	0
BDH2	56898	broad.mit.edu	37	4	104017355	104017355	+	Silent	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:104017355G>C	ENST00000296424.4	-	2	177	c.57C>G	c.(55-57)ggC>ggG	p.G19G		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	19					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CAGCTGCTTGGCCAATCCCCT	0.423000													11	24					0	0	0.013537	0	0
MFHAS1	9258	broad.mit.edu	37	8	8749414	8749414	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:8749414G>A	ENST00000276282.6	-	1	1741	c.1155C>T	c.(1153-1155)tgC>tgT	p.C385C		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	385										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TCCCCTTCATGCAGACCTCGT	0.617000													22	19					0	0	0.012319	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2																						CTCTTGTACTAGAAACAGACC	0.552000													3	45					0	0	0.014758	0	0
DPP10	57628	broad.mit.edu	37	2	116503737	116503737	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:116503737C>T	ENST00000410059.1	+	10	1408	c.928C>T	c.(928-930)Cca>Tca	p.P310S	DPP10_ENST00000310323.8_Missense_Mutation_p.P303S|DPP10_ENST00000393147.2_Missense_Mutation_p.P314S|DPP10_ENST00000409163.1_Missense_Mutation_p.P260S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	310					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGAGCTCATGCCACCTGACAG	0.343000													3	40					0	0	0.009096	0	0
OR5H2	79310	broad.mit.edu	37	3	98001947	98001947	+	Silent	SNP	C	C	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:98001947C>G	ENST00000355273.2	+	1	216	c.216C>G	c.(214-216)gcC>gcG	p.A72A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GGAGTTTAGCCTTTGTTGATG	0.393000													50	210					0	0	0.014410	0	0
KIAA1522	57648	broad.mit.edu	37	1	33235677	33235677	+	Silent	SNP	C	C	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:33235677C>G	ENST00000401073.2	+	6	967	c.897C>G	c.(895-897)gtC>gtG	p.V299V	KIAA1522_ENST00000373481.3_Silent_p.V251V|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Silent_p.V240V	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	240										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TTGACCGTGTCTACCGGGATG	0.682000													19	47					0	0	0.012319	0	0
ZNF440	126070	broad.mit.edu	37	19	11942501	11942501	+	Silent	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:11942501A>G	ENST00000304060.5	+	4	674	c.510A>G	c.(508-510)aaA>aaG	p.K170K		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTGGAGAGAAACCCAATGCTT	0.413000													54	103					0	0	0.014410	0	0
SLC4A10	57282	broad.mit.edu	37	2	162696359	162696359	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:162696359T>A	ENST00000375514.5	+	5	658	c.371T>A	c.(370-372)aTt>aAt	p.I124N	SLC4A10_ENST00000535165.1_Missense_Mutation_p.I113N|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.I113N|SLC4A10_ENST00000415876.2_Missense_Mutation_p.I113N|SLC4A10_ENST00000446997.1_Missense_Mutation_p.I113N|SLC4A10_ENST00000272716.5_Missense_Mutation_p.I113N	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	113					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAGGAACACATTCCTCATGAC	0.438000													19	57					0	0	0.006122	0	0
NFATC1	4772	broad.mit.edu	37	18	77208983	77208983	+	Splice_Site	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:77208983G>A	ENST00000253506.5	+	4	1957	c.1589_splice	c.e4+1	p.V530_splice	NFATC1_ENST00000545796.1_Splice_Site_p.V58_splice|NFATC1_ENST00000542384.1_Splice_Site_p.V530_splice|NFATC1_ENST00000318065.5_Splice_Site_p.V517_splice|NFATC1_ENST00000427363.2_Splice_Site_p.V530_splice|NFATC1_ENST00000397790.2_Splice_Site_p.V58_splice|NFATC1_ENST00000587635.1_Splice_Site_p.V530_splice|NFATC1_ENST00000592223.1_Splice_Site_p.V517_splice|NFATC1_ENST00000591814.1_Splice_Site_p.V530_splice|NFATC1_ENST00000329101.4_Splice_Site_p.V517_splice|NFATC1_ENST00000586434.1_Splice_Site_p.V517_splice	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	530	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CATGCGAGCCGTGTAAGCCGC	0.687000													8	27					0	0	0.010729	0	0
EPS15L1	58513	broad.mit.edu	37	19	16552783	16552783	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:16552783C>T	ENST00000597937.1	-	3	89	c.85G>A	c.(85-87)Gca>Aca	p.A29T	EPS15L1_ENST00000535753.2_Missense_Mutation_p.A29T|EPS15L1_ENST00000248070.6_Missense_Mutation_p.A29T|EPS15L1_ENST00000594975.1_Missense_Mutation_p.A29T|CTD-2013N17.4_ENST00000587343.1_RNA|EPS15L1_ENST00000455140.2_Missense_Mutation_p.A29T	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	29	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CCTGTGTATGCCGGATCGACC	0.512000											OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	123					0	0	0.009096	0	0
ZNF407	55628	broad.mit.edu	37	18	72343009	72343009	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:72343009G>A	ENST00000299687.5	+	1	34	c.34G>A	c.(34-36)Gag>Aag	p.E12K	ZNF407_ENST00000309902.6_Missense_Mutation_p.E12K|ZNF407_ENST00000577538.1_Missense_Mutation_p.E12K|ZNF407_ENST00000582337.1_Missense_Mutation_p.E12K	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGAAAATGATGAGGATGAAAA	0.408000													7	18					0	0	0.003080	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629441	1629441	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr11:1629441A>G	ENST00000399685.1	-	1	252	c.175T>C	c.(175-177)Tcc>Ccc	p.S59P		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	59	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCCCCACAGGAGCCACAGCTG	0.677000													72	193					0	0	0.014410	0	0
TAF1C	9013	broad.mit.edu	37	16	84217036	84217036	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:84217036C>T	ENST00000567759.1	-	4	480	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	TAF1C_ENST00000378541.4_Missense_Mutation_p.V100M|TAF1C_ENST00000341690.6_Missense_Mutation_p.V33M|TAF1C_ENST00000541676.1_Missense_Mutation_p.V33M|TAF1C_ENST00000566732.1_Missense_Mutation_p.V100M|TAF1C_ENST00000570117.1_Intron	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	100					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						ACATCCAGCACGACTCGGGGC	0.637000													8	16					0	0	0.004482	0	0
EXO1	9156	broad.mit.edu	37	1	242020736	242020736	+	Silent	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:242020736A>G	ENST00000366548.3	+	7	1088	c.495A>G	c.(493-495)caA>caG	p.Q165Q	EXO1_ENST00000518483.1_Silent_p.Q165Q|EXO1_ENST00000348581.5_Silent_p.Q165Q|EXO1_ENST00000493702.1_3'UTR	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	165	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAATTGTGCAAGCCATAATTA	0.458000								Editing and processing nucleases					20	59					0	0	0.014323	0	0
CETN1	1068	broad.mit.edu	37	18	580607	580607	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:580607G>C	ENST00000327228.3	+	1	241	c.199G>C	c.(199-201)Gaa>Caa	p.E67Q		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	67	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						ACCCAGGAAGGAAGAGATGAA	0.557000													10	34					0	0	0.006214	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7631535	7631535	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr11:7631535G>A	ENST00000299492.4	+	6	888	c.500G>A	c.(499-501)cGc>cAc	p.R167H	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R24H|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R9H|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R55H	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	167					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTGCTAAGCCGCACATCTCTT	0.493000													4	180					0	0	0.014758	0	0
SETD1A	9739	broad.mit.edu	37	16	30980949	30980949	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:30980949G>A	ENST00000262519.8	+	12	3641	c.2955G>A	c.(2953-2955)gaG>gaA	p.E985E		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	985	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGAAGATGAGGAAGATGAAG	0.507000													7	31					0	0	0.003080	0	0
ZNF594	84622	broad.mit.edu	37	17	5086056	5086056	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:5086056C>T	ENST00000399604.4	-	1	1636	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	ZNF594_ENST00000575779.1_Missense_Mutation_p.R499Q			Q96JF6	ZN594_HUMAN	zinc finger protein 594	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GAGTGAACGCCGCCTGAAGGC	0.478000													11	58					0	0	0.013537	0	0
CACNA1E	777	broad.mit.edu	37	1	181702754	181702754	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:181702754C>T	ENST00000526775.1	+	20	3238	c.3073C>T	c.(3073-3075)Cgg>Tgg	p.R1025W	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R995W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1025W|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1044W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R651W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R976W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1044W	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1044					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGACATGGGCCGGGTCATCAG	0.647000													6	17					0	0	0.021553	0	0
NUDT12	83594	broad.mit.edu	37	5	102895788	102895788	+	Silent	SNP	T	T	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:102895788T>G	ENST00000230792.2	-	2	258	c.162A>C	c.(160-162)gcA>gcC	p.A54A	NUDT12_ENST00000507423.1_Intron	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	54						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GCCCATTCCTTGCCGCATACA	0.408000													14	106					0	0	0.028581	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143913112	143913112	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:143913112G>A	ENST00000409869.1	+	3	230	c.53G>A	c.(52-54)cGc>cAc	p.R18H	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.R18H			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	18					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AATTCTACCCGCCAAGGCACA	0.398000													9	23					0	0	0.004482	0	0
RTF1	23168	broad.mit.edu	37	15	41750014	41750014	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:41750014A>G	ENST00000389629.4	+	4	614	c.602A>G	c.(601-603)gAg>gGg	p.E201G		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	201	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CAGATGACAGAGAAAGAGAGA	0.517000													27	71					0	0	0.010818	0	0
IGSF3	3321	broad.mit.edu	37	1	117142910	117142910	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:117142910G>C	ENST00000369486.3	-	7	2447	c.1682C>G	c.(1681-1683)tCc>tGc	p.S561C	IGSF3_ENST00000318837.6_Missense_Mutation_p.S581C|IGSF3_ENST00000369483.1_Missense_Mutation_p.S581C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	561	Ig-like C2-type 5.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CAAGTCAAAGGAGTCGCTGTA	0.592000													18	68					0	0	0.008871	0	0
GPX6	257202	broad.mit.edu	37	6	28473490	28473490	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:28473490G>T	ENST00000361902.1	-	4	498	c.449C>A	c.(448-450)aCt>aAt	p.T150N	GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	150					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CTTCAGGAAAGTAAAGACCTT	0.473000													15	72					6.31663e-08	6.83438e-08	0.024245	1	0
RTDR1	27156	broad.mit.edu	37	22	23401824	23401824	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr22:23401824G>A	ENST00000216036.4	-	7	1059	c.863C>T	c.(862-864)gCg>gTg	p.A288V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	288							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		ATTCAGGCGCGCTATGGTCAT	0.657000													16	119					0	0	0.028581	0	0
MYH6	4624	broad.mit.edu	37	14	23862217	23862217	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr14:23862217C>T	ENST00000405093.3	-	24	3225	c.3155G>A	c.(3154-3156)cGa>cAa	p.R1052Q	MYH6_ENST00000356287.3_Missense_Mutation_p.R1052Q	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1052					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGCTTTGCTCGCTCCAGGTC	0.488000													31	73					0	0	0.015359	0	0
FUT5	2527	broad.mit.edu	37	19	5867522	5867522	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:5867522G>A	ENST00000252675.5	-	5	777	c.215C>T	c.(214-216)gCc>gTc	p.A72V	FUT5_ENST00000588525.1_Missense_Mutation_p.A72V			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	72					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GGTGGGGTGGGCAGGGGTCGC	0.662000													15	51					0	0	0.024245	0	0
CXXC5	51523	broad.mit.edu	37	5	139060923	139060923	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:139060923G>A	ENST00000302517.3	+	2	1529	c.815G>A	c.(814-816)cGc>cAc	p.R272H	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Missense_Mutation_p.R272H	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	272					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCGGCGGCGCATCAACTGC	0.572000													81	112					0	0	0.014410	0	0
KRBA2	124751	broad.mit.edu	37	17	8273377	8273377	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:8273377C>T	ENST00000396267.1	-	2	1139	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	RP11-849F2.7_ENST00000582471.1_3'UTR|KRBA2_ENST00000331336.2_Missense_Mutation_p.R185Q|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	185	KRAB.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TACATAATACCGTATTCGATC	0.443000													47	127					0	0	0.013114	0	0
SNAP47	116841	broad.mit.edu	37	1	227935613	227935613	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:227935613A>T	ENST00000366759.4	+	2	725	c.311A>T	c.(310-312)gAg>gTg	p.E104V	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.E104V	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	104						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATCAAGAAGGAGGCTTCACAT	0.527000													20	48					0	0	0.010504	0	0
TEX13A	56157	broad.mit.edu	37	X	104464900	104464900	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chrX:104464900C>T	ENST00000372578.3	-	2	293	c.182G>A	c.(181-183)aGt>aAt	p.S61N	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.S61N|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.S61N	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	61						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TTTGACCTCACTGGGCACCTC	0.592000													15	20					0	0	0.028581	0	0
TMEM72	643236	broad.mit.edu	37	10	45430152	45430152	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:45430152G>A	ENST00000544540.1	+	4	528	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	133						integral to membrane		p.R133L(2)		breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						CTGAGCAAGCGGAAGAAGAGG	0.602000													25	79					0	0	0.024334	0	0
CSMD1	64478	broad.mit.edu	37	8	2966226	2966226	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:2966226C>T	ENST00000520002.1	-	45	7211	c.6656G>A	c.(6655-6657)gGc>gAc	p.G2219D	CSMD1_ENST00000602723.1_Missense_Mutation_p.G2219D|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2219D|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2219D|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2218D|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2218D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2219	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCTGTGTTGCCACTGAAAAC	0.498000													5	12					0	0	0.014758	0	0
MRC1	4360	broad.mit.edu	37	10	17875801	17875801	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:17875801G>A	ENST00000331429.2	+	4	868	c.765G>A	c.(763-765)ctG>ctA	p.L255L	MRC1L1_ENST00000457317.1_Silent_p.L255L																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGAGCTCCTGAGCATCACAG	0.428000													34	43					0	0	0.021022	0	0
IGLC7	28834	broad.mit.edu	37	22	23264932	23264932	+	RNA	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr22:23264932C>T	ENST00000390331.1	+	0	167																											TGGAGACCACCAAACCCTCCA	0.597000													7	50					0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13839478	13839478	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:13839478G>A	ENST00000265104.4	-	35	5973	c.5869C>T	c.(5869-5871)Cca>Tca	p.P1957S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1957	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGTAAGTGGAGTTATTACA	0.418000									Kartagener syndrome				29	104					0	0	0.008361	0	0
ZNF572	137209	broad.mit.edu	37	8	125989237	125989237	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:125989237C>A	ENST00000319286.5	+	3	881	c.727C>A	c.(727-729)Cca>Aca	p.P243T		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGGTGAAAAACCATATGAATG	0.453000										HNSCC(60;0.17)			22	90					1.26454e-06	1.34613e-06	0.027356	1	0
IRX2	153572	broad.mit.edu	37	5	2748625	2748625	+	Silent	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:2748625G>A	ENST00000382611.6	-	3	1445	c.1197C>T	c.(1195-1197)aaC>aaT	p.N399N	IRX2_ENST00000302057.5_Silent_p.N399N	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	399						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCAGCGCCGCGTTCAAGTTCC	0.711000													21	67					0	0	0.021523	0	0
INPP4B	8821	broad.mit.edu	37	4	143003331	143003331	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr4:143003331C>A	ENST00000513000.1	-	26	2928	c.2495G>T	c.(2494-2496)cGc>cTc	p.R832L	INPP4B_ENST00000308502.4_Missense_Mutation_p.R832L|INPP4B_ENST00000262992.4_Missense_Mutation_p.R832L|INPP4B_ENST00000509777.1_Missense_Mutation_p.R832L|INPP4B_ENST00000508116.1_Missense_Mutation_p.R832L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	832					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATTCAGTTTGCGGCAAATCTG	0.403000													11	45					0.00136819	0.00141095	0.013537	1	0
LOC81691	81691	broad.mit.edu	37	16	20856094	20856094	+	Silent	SNP	C	C	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:20856094C>G	ENST00000261377.6	+	17	2072	c.1863C>G	c.(1861-1863)ctC>ctG	p.L621L	AC004381.6_ENST00000564274.1_Silent_p.L621L|AC004381.6_ENST00000348433.6_Silent_p.L590L|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AGCCCCGCCTCTTTCTTGGCC	0.428000													29	82					0	0	0.008361	0	0
RELN	5649	broad.mit.edu	37	7	103270590	103270590	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:103270590C>T	ENST00000424685.2	-	20	2658	c.2499G>A	c.(2497-2499)aaG>aaA	p.K833K	RELN_ENST00000428762.1_Silent_p.K833K|RELN_ENST00000343529.5_Silent_p.K833K			P78509	RELN_HUMAN	reelin	833					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCAAACTGCTTTGCATCAC	0.343000													16	80					0	0	0.006122	0	0
EPN3	55040	broad.mit.edu	37	17	48613879	48613879	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:48613879C>T	ENST00000537145.1	+	2	346	c.209C>T	c.(208-210)cCg>cTg	p.P70L	EPN3_ENST00000541226.1_5'UTR|EPN3_ENST00000268933.3_5'UTR			Q9H201	EPN3_HUMAN	epsin 3	206	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CCTCCACCTCCGGCGGGGGCG	0.642000													18	46					0	0	0.006122	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													6	81					0	0	0.001984	0	0
EPHA7	2045	broad.mit.edu	37	6	94068069	94068069	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:94068069G>T	ENST00000369303.4	-	4	1077	c.893C>A	c.(892-894)aCt>aAt	p.T298N		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	298	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAAACTGTGAGTTGGACAACG	0.473000													10	66					2.17888e-05	2.27062e-05	0.006214	1	0
LIMK2	3985	broad.mit.edu	37	22	31655979	31655979	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr22:31655979C>T	ENST00000331728.4	+	5	581	c.467C>T	c.(466-468)cCg>cTg	p.P156L	LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Missense_Mutation_p.P135L|LIMK2_ENST00000340552.4_Missense_Mutation_p.P135L|LIMK2_ENST00000406516.1_Missense_Mutation_p.P78L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	156	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ATCTCCATGCCGGCCACCACT	0.557000													4	77					0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179473617	179473617	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:179473617A>T	ENST00000589042.1	-	274	52345	c.52121T>A	c.(52120-52122)aTc>aAc	p.I17374N	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I14806N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I15733N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I8434N|TTN_ENST00000460472.2_Missense_Mutation_p.I8309N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I8501N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15733	Fibronectin type-III 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAAAGTTGATTGGTGGTCC	0.388000													31	116					0	0	0.010818	0	0
SUSD5	26032	broad.mit.edu	37	3	33255548	33255548	+	Silent	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:33255548C>T	ENST00000309558.3	-	2	579	c.162G>A	c.(160-162)ctG>ctA	p.L54L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	54	Link.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GAGCAGCCTCCAGTTGTAGGC	0.547000													5	28					0	0	0.021553	0	0
FAM71A	149647	broad.mit.edu	37	1	212799632	212799632	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:212799632T>G	ENST00000294829.3	+	1	1844	c.1413T>G	c.(1411-1413)gaT>gaG	p.D471E	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	471										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CCAATAGAGATGACAAAAAGG	0.557000													20	44					0	0	0.012319	0	0
OTOGL	283310	broad.mit.edu	37	12	80730728	80730728	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:80730728A>C	ENST00000458043.2	+	41	4783	c.4777A>C	c.(4777-4779)Aag>Cag	p.K1593Q	OTOGL_ENST00000547103.1_Missense_Mutation_p.K1581Q	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTGTTTTAAGAAGTTAAATGT	0.294000													3	10					0	0	0.009096	0	0
SMAD2	4087	broad.mit.edu	37	18	45394805	45394805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr18:45394805G>A	ENST00000402690.2	-	5	938	c.544C>T	c.(544-546)Cga>Tga	p.R182*	SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000591214.1_Nonsense_Mutation_p.R152*|SMAD2_ENST00000356825.4_Nonsense_Mutation_p.R152*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.R152*|SMAD2_ENST00000262160.6_Nonsense_Mutation_p.R182*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	182					anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TCGGTGTGTCGGGGCACTAAT	0.438000													12	44					0	0	0.013537	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256301	140256301	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:140256301G>A	ENST00000398631.2	+	1	1244	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGACCGCGAGAGCGTG	0.612000													57	223					0	0	0.014410	0	0
PTPRH	5794	broad.mit.edu	37	19	55711682	55711682	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:55711682C>T	ENST00000376350.3	-	7	1364	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G270R	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	448	Fibronectin type-III 5.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TACAAGGTTCCGGGCTCAAGT	0.522000													27	89					0	0	0.027356	0	0
KIF1C	10749	broad.mit.edu	37	17	4926827	4926827	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:4926827C>T	ENST00000320785.5	+	23	3050	c.2693C>T	c.(2692-2694)gCa>gTa	p.A898V		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	898					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GGATCAGAGGCAGCAGAGGAG	0.637000													11	35					0	0	0.008291	0	0
VPS8	23355	broad.mit.edu	37	3	184714191	184714191	+	Silent	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:184714191G>T	ENST00000437079.3	+	44	3909	c.3738G>T	c.(3736-3738)tcG>tcT	p.S1246S	VPS8_ENST00000436792.2_Silent_p.S1244S|VPS8_ENST00000446204.2_Silent_p.S1154S|VPS8_ENST00000287546.4_Silent_p.S1246S	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1246							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGAGAGCTTCGGTCACCAGAG	0.413000													21	32					1.96292e-10	2.14729e-10	0.010504	1	0
SGCD	6444	broad.mit.edu	37	5	156186283	156186283	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:156186283C>T	ENST00000435422.3	+	8	1239	c.752C>T	c.(751-753)aCg>aTg	p.T251M	SGCD_ENST00000337851.4_Missense_Mutation_p.T252M	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	251					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGATCCTACACGCCTACAGGA	0.498000													20	106					0	0	0.014323	0	0
SIM1	6492	broad.mit.edu	37	6	100841635	100841635	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:100841635G>A	ENST00000369208.3	-	11	2080	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	SIM1_ENST00000262901.4_Missense_Mutation_p.S433L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	433	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTAGGCGCACGATGCGTCGTG	0.617000													13	59					0	0	0.024245	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144859816	144859816	+	Missense_Mutation	SNP	T	T	C	rs72063878		TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:144859816T>C	ENST00000369359.4	-	41	6714	c.6676A>G	c.(6676-6678)Att>Gtt	p.I2226V	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I2175V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.I2090V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I2090V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I1984V|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2090					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCTGGTTAATGGAGGAGGGG	0.577000			T	PDGFRB	MPD								6	98					0	0	0.010729	0	0
GOLGA1	2800	broad.mit.edu	37	9	127650555	127650555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr9:127650555G>A	ENST00000373555.4	-	19	2215	c.1882C>T	c.(1882-1884)Cag>Tag	p.Q628*		NM_002077.3	NP_002068.1	Q92805	GOGA1_HUMAN	golgin A1	628						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGAAGTTGCTGCTCCAAGTCC	0.517000													42	251					0	0	0.011902	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	39					0	0	0.004672	0	0
KIAA1683	80726	broad.mit.edu	37	19	18378184	18378184	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr19:18378184G>A	ENST00000392413.3	-	3	381	c.166C>T	c.(166-168)Cac>Tac	p.H56Y	KIAA1683_ENST00000600359.2_Missense_Mutation_p.H10Y|KIAA1683_ENST00000600328.2_Missense_Mutation_p.H56Y	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	56						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGGCCCTCGTGCTGGGGCTGT	0.657000													31	76					0	0	0.009535	0	0
UBR5	51366	broad.mit.edu	37	8	103281237	103281237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr8:103281237C>A	ENST00000520539.1	-	51	7936	c.7330G>T	c.(7330-7332)Gag>Tag	p.E2444*	UBR5_ENST00000521922.1_Nonsense_Mutation_p.E2438*|UBR5_ENST00000518205.1_Nonsense_Mutation_p.E173*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.E2444*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2444	PABC.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCCATGGCCTCATCCACTCTT	0.443000													27	117					3.73148e-12	4.17419e-12	0.007291	1	0
OR5H6	79295	broad.mit.edu	37	3	97983874	97983874	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr3:97983874G>A	ENST00000383696.2	+	1	787	c.746G>A	c.(745-747)gGg>gAg	p.G249E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCTATCAAAGGGATACGAAAA	0.383000													7	39					0	0	0.003080	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107019900	107019900	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr6:107019900G>A	ENST00000369063.3	-	9	1627	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	RTN4IP1_ENST00000539449.1_3'UTR|RTN4IP1_ENST00000498091.1_5'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	388						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GTCTTTCCTCGTGCGTGTCCT	0.383000													21	94					0	0	0.016522	0	0
MFSD2A	84879	broad.mit.edu	37	1	40424394	40424394	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr1:40424394A>G	ENST00000372809.5	+	3	432	c.289A>G	c.(289-291)Atc>Gtc	p.I97V	MFSD2A_ENST00000372811.5_Missense_Mutation_p.I84V|MFSD2A_ENST00000420632.2_Intron	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	97					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTCTGCCTCCATCATCCTGTT	0.582000													50	152					0	0	0.014410	0	0
MLLT10	8028	broad.mit.edu	37	10	21845639	21845639	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr10:21845639G>T	ENST00000377100.3	+	4	664	c.308G>T	c.(307-309)tGc>tTc	p.C103F	MLLT10_ENST00000446906.2_Intron|MLLT10_ENST00000377059.3_Intron|MLLT10_ENST00000495130.1_Intron|MLLT10_ENST00000377072.3_Intron|MLLT10_ENST00000377091.2_3'UTR|MLLT10_ENST00000307729.7_Intron	NM_001195628.1|NM_001195630.1	NP_001182557.1|NP_001182559.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	0	Self-association.				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			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						gaacatcactgcgcatgtgca	0.468000			T	"""MLL, PICALM, CDK6"""	AL								9	22					0.00829132	0.00850612	0.008291	1	0
DOCK9	23348	broad.mit.edu	37	13	99476709	99476709	+	Silent	SNP	G	G	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr13:99476709G>T	ENST00000376460.1	-	46	5153	c.5073C>A	c.(5071-5073)atC>atA	p.I1691I	DOCK9_ENST00000339416.2_Silent_p.I1692I|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1692	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTCCTCGTCGATGTTTGGGG	0.537000													32	111					1.36161e-19	1.57661e-19	0.019004	1	0
CCDC125	202243	broad.mit.edu	37	5	68603840	68603840	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:68603840C>T	ENST00000396496.2	-	5	576	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	CCDC125_ENST00000511257.1_Missense_Mutation_p.A32T|CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000383374.2_Missense_Mutation_p.A156T|CCDC125_ENST00000396499.1_Missense_Mutation_p.A157T			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	157						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TGACTTGTGGCTTTGCCCAGT	0.343000													49	45					0	0	0.014410	0	0
XDH	7498	broad.mit.edu	37	2	31562418	31562418	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr2:31562418delG	ENST00000379416.3	-	34	3759	c.3711delC	c.(3709-3711)ccfs	p.P1237fs		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1237					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGAACTCAATGGGGATGCTGC	0.577													46	164	---	---	---	---					
PCDHGA9	56107	broad.mit.edu	37	5	140783917	140783918	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr5:140783917_140783918delCA	ENST00000573521.1	+	1	1398_1399	c.1398_1399delCA	c.(1396-1401)gcgafs	p.AR466fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACAACGCCAGAGGTACTTC	0.470													17	110	---	---	---	---					
CCDC136	64753	broad.mit.edu	37	7	128454860	128454861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr7:128454860_128454861insC	ENST00000297788.4	+	15	3299_3300	c.2932_2933insC	c.(2932-2934)ccgfs	p.P978fs	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000471729.1_3'UTR	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	978						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGTCAAAGAAGCCCGGGGGAAG	0.540													6	13	---	---	---	---					
CAMKK2	10645	broad.mit.edu	37	12	121682412	121682412	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr12:121682412delT	ENST00000324774.5	-	16	2388	c.1560delA	c.(1558-1560)aafs	p.K520fs	CAMKK2_ENST00000538733.1_Intron|CAMKK2_ENST00000402834.4_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000446440.2_Frame_Shift_Del_p.K477fs|CAMKK2_ENST00000392474.2_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000392473.2_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000347034.2_Frame_Shift_Del_p.K477fs|CAMKK2_ENST00000404169.3_Frame_Shift_Del_p.K520fs|CAMKK2_ENST00000337174.3_Intron|CAMKK2_ENST00000545538.1_Frame_Shift_Del_p.K307fs|CAMKK2_ENST00000412367.2_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	520					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCTGGTTGGTTTTTTGCTGG	0.627													2	4	---	---	---	---					
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcc>gc	p.AH230del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	230	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621													7	63	---	---	---	---					
RFX7	64864	broad.mit.edu	37	15	56387585	56387586	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr15:56387585_56387586insA	ENST00000423270.1	-	9	2339_2340	c.2340_2341insT	c.(2338-2343)aagatgfs	p.KM780fs	RFX7_ENST00000317318.6_Frame_Shift_Ins_p.KM780fs|RFX7_ENST00000559447.2_Frame_Shift_Ins_p.KM683fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.KM683fs	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	683					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGTTGCCATCCATTTGGATTAA	0.371													28	81	---	---	---	---					
MBTPS1	8720	broad.mit.edu	37	16	84115471	84115472	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr16:84115471_84115472insT	ENST00000343411.3	-	11	1823_1824	c.1328_1329insA	c.(1327-1329)acafs	p.T443fs	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	443					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCAGGGCCTGCTTCATACTGGC	0.525													21	49	---	---	---	---					
FRG1BP	284802	broad.mit.edu	37	20	29625899	29625900	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chr20:29625899_29625900insAT	ENST00000278882.3	+	5	523_524	c.143_144insAT	c.(142-144)atafs	p.I48fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTATGGAAAATATCTTGGTA	0.342													9	107	---	---	---	---					
HUWE1	10075	broad.mit.edu	37	X	53587364	53587365	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-6471-01A-11D-1870-08	TCGA-CR-6471-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c087e87f-867c-45dd-8645-5ab774e4827c	98949b5b-2be7-4de5-946a-3b2e3c630415	g.chrX:53587364_53587365insG	ENST00000342160.3	-	55	7977_7978	c.7520_7521insC	c.(7519-7521)ctcfs	p.L2507fs	HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.L2507fs			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2507					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTCCTGGGGATGGGGGGATGTC	0.495													21	18	---	---	---	---					
