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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
IK	3550	broad.mit.edu	37	5	140037240	140037240	+	Silent	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr5:140037240G>A	uc003lgq.3	+	9	1013	c.903G>A	c.(901-903)aaG>aaA	p.K301K	IK_uc011czk.1_Silent_p.K301K|IK_uc021yen.1_Silent_p.K242K	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	301					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGAAGAAGGATAAAGGTA	0.478000														33			17		0	0	5.01169e-05	0	0
AHCYL2	23382	broad.mit.edu	37	7	129046309	129046309	+	Splice_Site	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:129046309T>C	uc011kov.2	+	10	1358	c.1295_splice	c.e10+2	p.C432_splice	AHCYL2_uc003vot.3_Splice_Site_p.C431_splice|AHCYL2_uc003vov.3_Splice_Site_p.C329_splice|AHCYL2_uc011kox.2_Splice_Site_p.C329_splice	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	432					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCAAGCCTGGTAAGCCTCTAC	0.522000														77			10		0	0	3.86212e-05	0	0
DCP1B	196513	broad.mit.edu	37	12	2107114	2107114	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:2107114A>G	uc001qjx.1	-	1	258	c.178T>C	c.(178-180)Ttt>Ctt	p.F60L	DCP1B_uc010sdy.1_5'UTR|DCP1B_uc010sdz.2_Missense_Mutation_p.F60L	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	60					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GTATAAACAAATAAGGTTCCT	0.308000														119			22		0	0	7.16444e-05	0	0
NEDD1	121441	broad.mit.edu	37	12	97306520	97306520	+	Silent	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:97306520A>G	uc001tew.3	+	2	323	c.177A>G	c.(175-177)gcA>gcG	p.A59A	NEDD1_uc001teu.4_Silent_p.A52A|NEDD1_uc001tev.4_Silent_p.A52A|NEDD1_uc010svc.2_Intron|NEDD1_uc001tex.3_5'UTR	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	52					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TAGTAACAGCATCTTCCAGTG	0.328000														61			16		0	0	7.07596e-05	0	0
PCDH7	5099	broad.mit.edu	37	4	30725854	30725854	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr4:30725854A>G	uc003gsk.1	+	0	3818	c.2810A>G	c.(2809-2811)gAc>gGc	p.D937G	PCDH7_uc011bxx.2_Missense_Mutation_p.D937G|PCDH7_uc021xnd.1_Missense_Mutation_p.D937G|PCDH7_uc021xnc.1_Missense_Mutation_p.D937G	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	937					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CCTAAAAAGGACAAGAAAAAC	0.398000														60			25		0	0	9.22233e-05	0	0
DLX1	1745	broad.mit.edu	37	2	172950461	172950461	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:172950461T>C	uc002uhl.3	+	0	254	c.56T>C	c.(55-57)gTg>gCg	p.V19A	DLX1_uc010fqj.1_Missense_Mutation_p.V19A|DLX1_uc002uhm.3_Missense_Mutation_p.V19A	NM_178120	NP_835221	P56177	DLX1_HUMAN	Homo sapiens distal-less homeobox 1 (DLX1), transcript variant 1, mRNA.	19						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGCAAGGCGGTGTTTATGGAG	0.582000														50			10		0	0	3.86212e-05	0	0
KCNH2	3757	broad.mit.edu	37	7	150646050	150646050	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:150646050T>C	uc003wic.3	-	9	2887	c.2486A>G	c.(2485-2487)gAc>gGc	p.D829G	KCNH2_uc003wib.3_Missense_Mutation_p.D489G|KCNH2_uc011kux.2_Missense_Mutation_p.D733G	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	829					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CTTGTGTAGGTCACAGTAGGT	0.577000														34			7		0	0	8.12818e-05	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18573894	18573894	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:18573894C>T	uc001rdt.3	+	15	2328	c.2212C>T	c.(2212-2214)Cgt>Tgt	p.R738C	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R779C|PIK3C2G_uc010sic.2_Missense_Mutation_p.R557C	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	738					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCAAGAAATTCGTAAAGTGGC	0.363000														68			34		0	0	0.000109025	0	0
HEATR1	55127	broad.mit.edu	37	1	236716882	236716882	+	Splice_Site	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:236716882T>C	uc001hyd.2	-	43	6389	c.6237_splice	c.e43+1	p.K2079_splice	HEATR1_uc009xgh.2_Splice_Site_p.K1241_splice	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	2079					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GTTCCTAACCTTAGGCGAGGA	0.498000														41			18		0	0	0.000295444	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74307767	74307767	+	Silent	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:74307767A>G	uc010wtb.1	-	9	926	c.705T>C	c.(703-705)aaT>aaC	p.N235N	PRPSAP1_uc010wta.1_Silent_p.N338N	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	309					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GAGGGACAGTATTCGTCACCA	0.433000														30			10		0	0	2.31682e-05	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85441228	85441228	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:85441228A>G	uc001tac.3	+	5	769	c.658A>G	c.(658-660)Aaa>Gaa	p.K220E	LRRIQ1_uc021rbo.1_Missense_Mutation_p.K98E|LRRIQ1_uc001taa.1_Missense_Mutation_p.K220E|LRRIQ1_uc001tad.3_Missense_Mutation_p.K128E	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	220	Glu-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAAAAGAAGAAATTAGAGAA	0.313000														165			22		0	0	9.22233e-05	0	0
MKRN1	23608	broad.mit.edu	37	7	140156594	140156594	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:140156594C>T	uc003vvt.2	-	4	1069	c.844G>A	c.(844-846)Ggg>Agg	p.G282R	MKRN1_uc003vvs.2_Missense_Mutation_p.G218R|MKRN1_uc011krd.1_Missense_Mutation_p.G16R|MKRN1_uc003vvv.4_Missense_Mutation_p.G282R|MKRN1_uc003vvu.4_Missense_Mutation_p.G218R	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.	282							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					ATGCAGATCCCACACACCATG	0.552000														50			10		0	0	6.40141e-05	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439579	150439579	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:150439579A>G	uc022apw.1	+	5	1104	c.964A>G	c.(964-966)Atc>Gtc	p.I322V	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.I118V	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GCTTCTGGTGATCCAGCTGGG	0.577000														80			10		0	0	6.40141e-05	0	0
LIPT1	51601	broad.mit.edu	37	2	99779004	99779004	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:99779004G>A	uc002szp.4	+	2	745	c.707G>A	c.(706-708)aGc>aAc	p.S236N	MRPL30_uc002szl.1_Intron|LIPT1_uc002szm.4_Missense_Mutation_p.S195N|LIPT1_uc002szn.4_Missense_Mutation_p.S195N|LIPT1_uc002szo.4_Missense_Mutation_p.S195N|LIPT1_uc002szq.4_Missense_Mutation_p.S195N|MRPL30_uc002szr.3_Intron|LIPT1_uc021vln.1_Missense_Mutation_p.S195N|LIPT1_uc021vlo.1_Missense_Mutation_p.S195N|LIPT1_uc021vlp.1_Missense_Mutation_p.S195N	NM_145199	NP_660200	Q9Y234	LIPT_HUMAN	Homo sapiens lipoyltransferase 1 (LIPT1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	195					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	TTGCTAAAGAGCCCTTACCAA	0.443000														55			15		0	0	2.31682e-05	0	0
THAP8	199745	broad.mit.edu	37	19	36530862	36530862	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:36530862C>T	uc002oda.1	-	1	805	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	BC071809_uc002ocy.3_Intron|THAP8_uc010xtb.1_Missense_Mutation_p.R44Q|THAP8_uc010xtc.1_Intron	NM_152658	NP_689871	Q8NA92	THAP8_HUMAN	Homo sapiens THAP domain containing 8 (THAP8), mRNA.	87							DNA binding|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGGTGGTCCCCGGGAGAAGAT	0.627000														23			7		0	0	2.17888e-05	0	0
MEA1	4201	broad.mit.edu	37	6	42981045	42981045	+	Silent	SNP	C	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:42981045C>A	uc003otk.3	-	1	178	c.111G>T	c.(109-111)ctG>ctT	p.L37L	MEA1_uc010jyc.1_Silent_p.L24L|KLHDC3_uc003otl.3_5'Flank|KLHDC3_uc003otn.3_5'Flank|KLHDC3_uc003otm.3_5'Flank|KLHDC3_uc021yzr.1_5'Flank	NM_014623	NP_055438	Q16626	MEA1_HUMAN	Homo sapiens male-enhanced antigen 1 (MEA1), mRNA.	37					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCTGATGTCCCAGTTCCTCAG	0.607000														44			5		1.23904e-05	0.000440177	1.23904e-05	1	0
SLC5A8	160728	broad.mit.edu	37	12	101555752	101555752	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:101555752C>T	uc001thz.4	-	13	2020	c.1630_splice	c.e13+1	p.G544_splice		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	544					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGATAGTTACCTGTTGATAAA	0.308000														141			119		0	0	0.000147903	0	0
TEKT3	64518	broad.mit.edu	37	17	15215662	15215662	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:15215662G>T	uc002gon.3	-	6	1202	c.1015C>A	c.(1015-1017)Caa>Aaa	p.Q339K		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	339					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTGTTGAATTGATTCCACATC	0.448000														76			24		3.96558e-24	1.45545e-22	9.22233e-05	1	0
FAM63A	55793	broad.mit.edu	37	1	150971957	150971957	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:150971957G>A	uc010pcn.2	-	7	1236	c.1013C>T	c.(1012-1014)aCc>aTc	p.T338I	FAM63A_uc001ewc.3_Missense_Mutation_p.T148I|FAM63A_uc010pcm.2_Missense_Mutation_p.T195I|FAM63A_uc001ewd.3_Missense_Mutation_p.T148I|FAM63A_uc001ewf.3_Missense_Mutation_p.T290I|FAM63A_uc001ewg.3_Missense_Mutation_p.T290I	NM_001163258	NP_001156730	Q8N5J2	FA63A_HUMAN	Homo sapiens family with sequence similarity 63, member A (FAM63A), transcript variant 3, mRNA.	290							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGGGCCGCGGTGGTCTCCAG	0.547000														99			41		0	0	0.000125731	0	0
KIAA1524	57650	broad.mit.edu	37	3	108278845	108278845	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:108278845A>G	uc003dxb.4	-	14	2127	c.1858T>C	c.(1858-1860)Tct>Cct	p.S620P		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	620						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTATGTCAGATATTCTCACA	0.254000														112			6		0	0	8.12818e-05	0	0
TNF	7124	broad.mit.edu	37	6	31543638	31543638	+	Silent	SNP	C	T	T	rs141667614		TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:31543638C>T	uc003nui.3	+	0	289	c.120C>T	c.(118-120)atC>atT	p.I40I	TNF_uc003nuj.3_5'Flank	NM_000594	NP_000585	P01375	TNFA_HUMAN	Homo sapiens tumor necrosis factor (TNF), mRNA.	40					activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	CCTTCCTGATCGTGGCAGGCG	0.657000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					25			13		0	0	5.01169e-05	0	0
CHST4	10164	broad.mit.edu	37	16	71571634	71571634	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr16:71571634G>A	uc021tkt.1	+	0	1054	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	CHST4_uc002fan.3_Missense_Mutation_p.D352N|CHST4_uc002fao.3_Missense_Mutation_p.D352N	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	352					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.D352N(2)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AGCCTGTGGCGATGCCATGAA	0.512000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			25		0	0	5.49717e-05	0	0
HDAC2	3066	broad.mit.edu	37	6	114281154	114281154	+	Silent	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:114281154C>T	uc003pwd.2	-	1	368	c.81G>A	c.(79-81)caG>caA	p.Q27Q	HDAC2_uc003pwc.2_5'UTR|HDAC2_uc003pwe.2_5'UTR	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	27	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	TGGGATGACCCTGTCCATAAT	0.328000														49			29		0	0	0.000227799	0	0
RAB1B	81876	broad.mit.edu	37	11	66039915	66039915	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr11:66039915A>G	uc001ohf.3	+	3	358	c.263A>G	c.(262-264)tAt>tGt	p.Y88C	AK125412_uc001ohg.1_Non-coding_Transcript	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	Homo sapiens RAB1B, member RAS oncogene family (RAB1B), mRNA.	88					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						ATCGTGGTGTATGACGTCACT	0.552000														24			8		0	0	0.000157383	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960020	117960020	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chrX:117960020C>G	uc004equ.3	+	3	1286	c.813C>G	c.(811-813)gaC>gaG	p.D271E	ZCCHC12_uc022cdh.1_Missense_Mutation_p.D271E	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ATACCCTCGACGACTCCGATG	0.582000														5			31		0	0	5.84002e-05	0	0
DDX10	1662	broad.mit.edu	37	11	108577504	108577505	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr11:108577504_108577505CC>AA	uc001pkm.3	+	9	1327_1328	c.1262_1263CC>AA	c.(1261-1263)ccc>cAA	p.P421Q	DDX10_uc001pkl.1_Missense_Mutation_p.P421Q	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	421	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ATTTTGCTACCCTCAGAAAAAG	0.347000			T	NUP98	AML*									234			9		0	0	6.4e-05	0	0
CPT1B	1375	broad.mit.edu	37	22	51009877	51009877	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr22:51009877T>C	uc003bmm.3	-	13	1766	c.1667A>G	c.(1666-1668)aAa>aGa	p.K556R	CPT1B_uc003bmk.4_Missense_Mutation_p.K556R|CPT1B_uc003bml.3_Missense_Mutation_p.K556R|CPT1B_uc003bmo.3_Missense_Mutation_p.K556R|CPT1B_uc011asa.2_Missense_Mutation_p.K522R|CPT1B_uc003bmn.3_Missense_Mutation_p.K556R|CPT1B_uc011asb.2_Missense_Mutation_p.K475R|CPT1B_uc003bmp.3_Missense_Mutation_p.K351R|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	556	Coenzyme A binding (By similarity).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GATGAGGCCTTTGCCAAAGGG	0.617000														158			7		0	0	0.000157383	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18785968	18785969	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:18785968_18785969CC>AA	uc002gup.2	+	6	822_823	c.500_501CC>AA	c.(499-501)ccc>cAA	p.P167Q	PRPSAP2_uc002guo.2_Missense_Mutation_p.P81Q|PRPSAP2_uc010vyi.2_Missense_Mutation_p.P127Q|PRPSAP2_uc010vyj.2_Missense_Mutation_p.P81Q|PRPSAP2_uc010vyk.2_Missense_Mutation_p.P167Q	NM_002767	NP_002758	O60256	KPRB_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.	167					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						AGAGCATCTCCCTTCTTATTAC	0.317000														286			13		0	0	6.4e-05	0	0
GREB1	9687	broad.mit.edu	37	2	11761042	11761042	+	Silent	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:11761042A>G	uc002rbk.1	+	22	4356	c.4056A>G	c.(4054-4056)acA>acG	p.T1352T	GREB1_uc002rbp.1_Silent_p.T350T	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1352						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCGGGAAGACAGGTGCCTACC	0.532000														115			26		0	0	9.22233e-05	0	0
ABHD11	83451	broad.mit.edu	37	7	73150998	73150998	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:73150998A>G	uc003tzb.3	-	5	902	c.839T>C	c.(838-840)aTg>aCg	p.M280T	ABHD11_uc003tza.3_Missense_Mutation_p.M167T|ABHD11_uc011kfb.2_Missense_Mutation_p.M223T|ABHD11_uc003tzc.3_Missense_Mutation_p.M273T	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	Homo sapiens abhydrolase domain containing 11 (ABHD11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	280							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAAGAGCCGCATAATCTCAGG	0.602000														37			13		0	0	0.000151284	0	0
PRG4	10216	broad.mit.edu	37	1	186276943	186276943	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:186276943C>G	uc001gru.4	+	6	2143	c.2092C>G	c.(2092-2094)Cca>Gca	p.P698A	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.P657A|PRG4_uc009wyl.3_Missense_Mutation_p.P605A|PRG4_uc009wym.3_Missense_Mutation_p.P564A|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	698	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GGAGCCTGCTCCAACTACCCC	0.592000														33			10		0	0	0.00010058	0	0
ZNF385D	79750	broad.mit.edu	37	3	21606177	21606177	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:21606177C>T	uc003cce.3	-	3	574	c.166_splice	c.e3-1	p.M56_splice	ZNF385D_uc010hfb.1_Splice_Site	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	56						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TCGGGTCCATCTGTAATGAGA	0.363000														41			10		0	0	3.86212e-05	0	0
GABPB2	126626	broad.mit.edu	37	1	151079643	151079643	+	Silent	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:151079643C>T	uc001ewr.2	+	6	1198	c.867C>T	c.(865-867)atC>atT	p.I289I	GABPB2_uc001ewt.2_Silent_p.I150I	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	289					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AAACTTCAATCCCTACTGGAG	0.438000														18			15		0	0	2.31682e-05	0	0
IFRD1	3475	broad.mit.edu	37	7	112096077	112096077	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:112096077G>C	uc003vgh.3	+	3	690	c.220G>C	c.(220-222)Gaa>Caa	p.E74Q	IFRD1_uc011kmn.2_Missense_Mutation_p.E24Q|IFRD1_uc003vgi.3_Missense_Mutation_p.E74Q|IFRD1_uc003vgj.3_Missense_Mutation_p.E74Q|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Missense_Mutation_p.E24Q	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	74					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCTTGATGAGGAAGGAACTCA	0.358000														55			11		0	0	0.000151284	0	0
CCRL2	9034	broad.mit.edu	37	3	46449815	46449815	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:46449815T>C	uc010hjg.3	+	1	394	c.281T>C	c.(280-282)gTt>gCt	p.V94A	CCRL2_uc003cpp.4_Missense_Mutation_p.V82A|CCRL2_uc010hjf.3_Missense_Mutation_p.V82A|CCRL2_uc021wxc.1_Missense_Mutation_p.V82A	NM_001130910	NP_003956	O00421	CCRL2_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA.	82					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		AACTTGGCAGTTTCTAACTTG	0.453000														46			21		0	0	5.49717e-05	0	0
AXDND1	126859	broad.mit.edu	37	1	179503928	179503928	+	Silent	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:179503928T>C	uc001gmo.3	+	24	3249	c.2862T>C	c.(2860-2862)caT>caC	p.H954H	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Silent_p.H838H|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	954	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGAAACTTCATCATACCCTTA	0.353000														105			6		0	0	3.59834e-05	0	0
HSPB8	26353	broad.mit.edu	37	12	119617327	119617327	+	Silent	SNP	C	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:119617327C>G	uc001txb.3	+	0	733	c.210C>G	c.(208-210)ccC>ccG	p.P70P		NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	Homo sapiens heat shock 22kDa protein 8 (HSPB8), mRNA.	70					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	p.V69L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCATGGTGCCCCGGGGCCCCA	0.682000														22			18		0	0	9.7654e-05	0	0
KIF20B	9585	broad.mit.edu	37	10	91477240	91477240	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr10:91477240T>C	uc001kgs.1	+	9	1184	c.1112T>C	c.(1111-1113)aTt>aCt	p.I371T	KIF20B_uc001kgr.1_Missense_Mutation_p.I371T	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	371	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TCTCGTGTAATTCGAGTCAGT	0.234000														21			8		0	0	3.86212e-05	0	0
KLHL17	339451	broad.mit.edu	37	1	899317	899317	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:899317C>T	uc001aca.2	+	8	1480	c.1373C>T	c.(1372-1374)cCc>cTc	p.P458L	KLHL17_uc001acc.2_Non-coding_Transcript|PLEKHN1_uc001acd.3_5'Flank|PLEKHN1_uc001acf.3_5'Flank|PLEKHN1_uc001ace.3_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA.	458	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGCTACGACCCCCTGACCGGA	0.682000														46			41		0	0	0.000147903	0	0
ANK3	288	broad.mit.edu	37	10	61828879	61828880	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr10:61828879_61828880CC>AA	uc001jky.3	-	36	12097_12098	c.11759_11760GG>TT	c.(11758-11760)agg>aTT	p.R3920I	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3920					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTATGTTATCCCTGTGTGTGTT	0.426000														190			9		0	0	6.4e-05	0	0
OR8B4	283162	broad.mit.edu	37	11	124293983	124293983	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr11:124293983G>A	uc010sak.2	-	0	785	c.785C>T	c.(784-786)tCt>tTt	p.S262F		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCCAGGAAAAGATGTTGTTAA	0.453000														15			16		0	0	3.45872e-05	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413739	22413739	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr15:22413739C>T	uc001yuf.3	+	0	278	c.38C>T	c.(37-39)tCc>tTc	p.S13F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		AAGGTAATCTCCTACAGAGGC	0.488000														219			37		0	0	0.000191422	0	0
RNF182	221687	broad.mit.edu	37	6	13977949	13977949	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:13977949G>A	uc021ylw.1	+	2	1092	c.599G>A	c.(598-600)gGa>gAa	p.G200E	RNF182_uc021ylx.1_Missense_Mutation_p.G200E|RNF182_uc003nbe.3_Missense_Mutation_p.G200E|RNF182_uc003nbf.3_Missense_Mutation_p.G200E|RNF182_uc003nbg.3_Missense_Mutation_p.G200E|RNF182_uc021yly.1_Missense_Mutation_p.G200E	NM_001165034	NP_689950	Q8N6D2	RN182_HUMAN	Homo sapiens ring finger protein 182 (RNF182), transcript variant 4, mRNA.	200						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TTACCCTTAGGAATCTACTTA	0.493000														46			37		0	0	7.51294e-05	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					20			71		0	0	0.000147903	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751283	162751283	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:162751283G>A	uc002ubx.4	+	10	1473	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E	SLC4A10_uc010fpa.1_Missense_Mutation_p.G442E|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.G411E|SLC4A10_uc002uby.4_Missense_Mutation_p.G400E	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	430					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						CTCCCTCCTGGAGAATGGGAT	0.368000														73			56		0	0	0.000147903	0	0
FAM104A	84923	broad.mit.edu	37	17	71228388	71228388	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:71228388A>T	uc002jjj.4	-	0	146	c.58T>A	c.(58-60)Tac>Aac	p.Y20N	FAM104A_uc002jji.4_Missense_Mutation_p.Y20N|C17orf80_uc010wqu.1_5'UTR|C17orf80_uc010dfj.3_5'UTR|C17orf80_uc002jjk.1_5'Flank|C17orf80_uc002jjm.4_5'Flank|C17orf80_uc002jjl.4_5'Flank	NM_001098832	NP_001092302	Q969W3	F104A_HUMAN	Homo sapiens family with sequence similarity 104, member A (FAM104A), transcript variant 1, mRNA.	20										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GGTGGCGAGTACCCCTCAGTC	0.721000														24			9		0	0	6.40141e-05	0	0
TG	7038	broad.mit.edu	37	8	133945820	133945820	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr8:133945820G>A	uc003ytw.3	+	23	4872	c.4831G>A	c.(4831-4833)Gag>Aag	p.E1611K	TG_uc010mdw.3_Missense_Mutation_p.E370K|TG_uc011ljb.2_Missense_Mutation_p.E44K	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1611					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACAGAGGACGAGGCCTGCAG	0.577000														32			43		0	0	0.000147903	0	0
LPPR2	64748	broad.mit.edu	37	19	11472104	11472104	+	Silent	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:11472104G>A	uc002mrf.2	+	5	904	c.528G>A	c.(526-528)gcG>gcA	p.A176A	LPPR2_uc002mre.2_Silent_p.A201A|LPPR2_uc010dxy.2_5'UTR	NM_001170635	NP_001164106	Q96GM1	LPPR2_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA.	201						integral to membrane	phosphatidate phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	6						TGGCCGCCGCGCGCCGCGCCT	0.701000														25			14		0	0	0.000151284	0	0
KDM6B	23135	broad.mit.edu	37	17	7752375	7752375	+	Silent	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:7752375C>T	uc002gix.3	+	0	1512	c.675C>T	c.(673-675)acC>acT	p.T225T	KDM6B_uc002giw.1_Silent_p.T923T	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	923	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTTGCGAGACCCTTGTGGAGC	0.687000														25			10		0	0	0.00010058	0	0
DNER	92737	broad.mit.edu	37	2	230456470	230456470	+	Silent	SNP	G	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:230456470G>T	uc002vpv.3	-	1	558	c.411C>A	c.(409-411)ccC>ccA	p.P137P		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	137					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CTGGGAGACTGGGAAGTGCCT	0.577000														23			22		1.2476e-16	4.54881e-15	0.000147802	1	0
THSD7A	221981	broad.mit.edu	37	7	11676265	11676265	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:11676265T>C	uc021zzo.1	-	1	766	c.514A>G	c.(514-516)Atc>Gtc	p.I172V	THSD7A_uc021zzn.1_Missense_Mutation_p.I172V	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	172						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCACAGATGATATCCTCCGCA	0.498000										HNSCC(18;0.044)				104			14		0	0	0.000219431	0	0
TRANK1	9881	broad.mit.edu	37	3	36888812	36888812	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:36888812G>A	uc003cgj.3	-	14	5029	c.4781C>T	c.(4780-4782)tCc>tTc	p.S1594F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1594					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTGAATGAGGAAATGATCTT	0.458000														23			8		0	0	0.000157383	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522284	124522284	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr9:124522284A>G	uc004bln.3	+	5	721	c.652A>G	c.(652-654)Acg>Gcg	p.T218A	DAB2IP_uc004blo.3_Missense_Mutation_p.T122A	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	246	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TGCCCGCACCACGGGCAAGCT	0.597000														33			4		0	0	1.23904e-05	0	0
ADCY9	115	broad.mit.edu	37	16	4016397	4016397	+	Silent	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr16:4016397G>A	uc002cvx.3	-	10	3980	c.3441C>T	c.(3439-3441)cgC>cgT	p.R1147R		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	1147	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGTCCACCACGCGCATCATCT	0.632000														48			32		0	0	4.66903e-05	0	0
BCORL1	63035	broad.mit.edu	37	X	129149266	129149266	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chrX:129149266T>C	uc022cdu.1	+	2	2562	c.2518T>C	c.(2518-2520)Tct>Cct	p.S840P	BCORL1_uc010nrd.1_Missense_Mutation_p.S742P	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	840					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCACCAGGCGTCTCTGCTTTC	0.612000														32			13		0	0	2.31682e-05	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	G	G	rs138128932	by1000genomes	TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr18:47363917A>G	uc002leb.2	-	36	5396	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	MYO5B_uc002ldz.3_Missense_Mutation_p.V273A|MYO5B_uc002lea.2_Missense_Mutation_p.V818A	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1703	Dilute.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.V1703A(10)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527000														37			5		0	0	8.12818e-05	0	0
EEPD1	80820	broad.mit.edu	37	7	36194142	36194142	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:36194142A>G	uc003tfa.3	+	1	849	c.209A>G	c.(208-210)tAt>tGt	p.Y70C		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	70					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TACCGAGAGTATATCGGTGGC	0.592000														133			24		0	0	7.16444e-05	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374864	8374864	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:8374864C>T	uc001qui.2	-	6	1508	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	FAM90A1_uc001quh.2_Missense_Mutation_p.E317K	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	317							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ATGGCGCTTTCGGGGATCTGG	0.632000														12			12		0	0	0.000151284	0	0
PHTF1	10745	broad.mit.edu	37	1	114253052	114253052	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:114253052A>G	uc009wgp.1	-	9	1545	c.1093T>C	c.(1093-1095)Tca>Cca	p.S365P	PHTF1_uc001edn.3_Missense_Mutation_p.S365P|PHTF1_uc001edm.2_Missense_Mutation_p.S122P|PHTF1_uc001edo.1_Missense_Mutation_p.S122P	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	365						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCTTCTTGACATGTTGAGG	0.458000														41			12		0	0	0.000151284	0	0
ILF2	3608	broad.mit.edu	37	1	153636568	153636568	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:153636568A>G	uc001fcr.3	-	9	776	c.695T>C	c.(694-696)aTt>aCt	p.I232T	ILF2_uc010pdy.2_Missense_Mutation_p.I194T	NM_004515	NP_004506	Q12905	ILF2_HUMAN	Homo sapiens interleukin enhancer binding factor 2, 45kDa (ILF2), mRNA.	232	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAAAACGAATCCTCAAGTC	0.403000														36			11		0	0	0.000151284	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45553649	45553649	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:45553649A>G	uc001cnd.2	-	1	1084	c.856T>C	c.(856-858)Tat>Cat	p.Y286H		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	286							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GTGATTAAATATTGAATAAAC	0.418000														84			7		0	0	8.12818e-05	0	0
TLR7	51284	broad.mit.edu	37	X	12904178	12904178	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chrX:12904178A>T	uc004cvc.3	+	2	690	c.551A>T	c.(550-552)tAt>tTt	p.Y184F		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	184					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CAAAACTGTTATTATCGAAAT	0.378000														7			26		0	0	0.000117367	0	0
MYEF2	50804	broad.mit.edu	37	15	48443761	48443761	+	Silent	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr15:48443761G>A	uc001zwi.4	-	12	1339	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	MYEF2_uc001zwg.4_5'Flank|MYEF2_uc001zwh.4_Silent_p.Y17Y|MYEF2_uc001zwj.4_Silent_p.Y405Y	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	Homo sapiens myelin expression factor 2 (MYEF2), mRNA.	405	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|RNA binding|nucleotide binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCGCACCACGGTACAGCTCTG	0.378000														175			55		0	0	0.000147903	0	0
DMRTA2	63950	broad.mit.edu	37	1	50884984	50884984	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:50884984G>A	uc010ona.2	-	1	1078	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	DMRTA2_uc010onb.2_Missense_Mutation_p.R328W	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	Homo sapiens DMRT-like family A2 (DMRTA2), mRNA.	328	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						ACGCCTCGCCGGTGGCCTGGG	0.731000														26			10		0	0	6.40141e-05	0	0
ANKRD12	23253	broad.mit.edu	37	18	9195588	9195588	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr18:9195588A>G	uc002knv.3	+	2	391	c.127A>G	c.(127-129)Att>Gtt	p.I43V	ANKRD12_uc010wzn.2_Missense_Mutation_p.I43V|ANKRD12_uc002knw.3_Missense_Mutation_p.I43V|ANKRD12_uc002knx.3_Missense_Mutation_p.I43V	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	43						nucleus		p.K42Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AACTCCAAAAATTGAACGAAG	0.323000														12			9		0	0	0.000274275	0	0
RPL3	6122	broad.mit.edu	37	22	39712780	39712780	+	Silent	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr22:39712780C>T	uc003axi.3	-	3	500	c.432G>A	c.(430-432)aaG>aaA	p.K144K	RPL3_uc003axh.3_Intron|RPL3_uc003axj.3_5'UTR	NM_000967	NP_000958	P39023	RL3_HUMAN	Homo sapiens ribosomal protein L3 (RPL3), transcript variant 1, mRNA.	144					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					TCTCCAGCTGCTTCTTGCCAT	0.547000											OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		106			15		0	0	0.000219431	0	0
RWDD1	51389	broad.mit.edu	37	6	116892810	116892810	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:116892810C>T	uc003pxd.3	+	0	228	c.65C>T	c.(64-66)tCc>tTc	p.S22F	RWDD1_uc003pxc.3_5'UTR|RWDD1_uc003pxb.3_5'UTR	NM_015952	NP_057188	Q9H446	RWDD1_HUMAN	Homo sapiens RWD domain containing 1 (RWDD1), transcript variant 1, mRNA.	22	RWD.						protein binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		TACCCTGACTCCTTCACAGGT	0.647000														16			5		0	0	3.59834e-05	0	0
EXO1	9156	broad.mit.edu	37	1	242016700	242016700	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:242016700C>T	uc021plj.1	+	3	636	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	EXO1_uc001hzh.3_Missense_Mutation_p.R108C|EXO1_uc009xgq.3_Missense_Mutation_p.R108C|EXO1_uc021plk.1_Missense_Mutation_p.R108C	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	108					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)			GCAACTTCTTCGTGAGGGGAA	0.418000								Editing and processing nucleases						65			27		0	0	0.000184323	0	0
GPR20	2843	broad.mit.edu	37	8	142366966	142366966	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr8:142366966G>C	uc022bby.1	-	0	1058	c.1058C>G	c.(1057-1059)gCt>gGt	p.A353G	GPR20_uc003ywf.3_Missense_Mutation_p.A353G	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	353						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GGGCCCATTAGCCAGGGCCTG	0.667000														16			10		0	0	2.17888e-05	0	0
GBF1	8729	broad.mit.edu	37	10	104018780	104018780	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr10:104018780C>A	uc001kux.2	+	1	379	c.85C>A	c.(85-87)Cat>Aat	p.H29N	GBF1_uc001kuw.3_Missense_Mutation_p.H29N|GBF1_uc001kuy.2_Missense_Mutation_p.H29N|GBF1_uc001kuz.2_Missense_Mutation_p.H29N	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	29					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.H29N(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGGAGCACCCATACACCACT	0.413000														77			6		8.12818e-05	0.0028692	8.12818e-05	1	0
KLHDC7A	127707	broad.mit.edu	37	1	18809456	18809456	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:18809456C>T	uc001bax.3	+	0	2033	c.1981C>T	c.(1981-1983)Ccc>Tcc	p.P661S	KLHDC7A_uc009vpg.3_Missense_Mutation_p.P443S	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	661						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGCCGGCCCCACCGGGGG	0.682000														15			8		0	0	0.000157383	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809275	48809275	+	Silent	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:48809275C>T	uc002rwp.2	+	1	1617	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	STON1-GTF2A1L_uc021vhf.1_Silent_p.I501I|STON1-GTF2A1L_uc002rwo.4_Silent_p.I501I|STON1-GTF2A1L_uc010fbm.3_Silent_p.I501I|STON1-GTF2A1L_uc010yol.2_Silent_p.I501I	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	501					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.R500R(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATCAAGAATCATTAAGTTTG	0.378000														70			52		0	0	0.000147903	0	0
PSG4	5672	broad.mit.edu	37	19	43420344	43420344	+	Silent	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:43420344G>A	uc002ovj.1	-	1	459	c.360C>T	c.(358-360)acC>acT	p.T120T	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Silent_p.T120T	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	121	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGATGTGTAAGGTGTAGGATC	0.473000														120			38		0	0	0.000270559	0	0
MCEE	84693	broad.mit.edu	37	2	71351586	71351586	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:71351586C>T	uc002shs.2	-	1	173	c.128G>A	c.(127-129)tGg>tAg	p.W43*		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	Homo sapiens methylmalonyl CoA epimerase (MCEE), mRNA.	43					L-methylmalonyl-CoA metabolic process|fatty acid beta-oxidation	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACCCAGGTTCCACACAGAACC	0.468000														153			39		0	0	0.000106405	0	0
ZFP112	7771	broad.mit.edu	37	19	44832140	44832140	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:44832140A>T	uc010xwy.2	-	4	2357	c.2239T>A	c.(2239-2241)Ttc>Atc	p.F747I	ZFP112_uc010ejj.3_Missense_Mutation_p.F730I|ZFP112_uc002ozc.4_Missense_Mutation_p.F724I|ZFP112_uc010xwz.2_Missense_Mutation_p.F729I	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CTCTGACTGAAGCCCTTTCCA	0.443000														95			31		0	0	0.000109025	0	0
ARID1A	8289	broad.mit.edu	37	1	27089778	27089778	+	Splice_Site	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:27089778T>C	uc001bmv.1	+	8	3105	c.2732_splice	c.e8+2	p.R911_splice	ARID1A_uc001bmt.1_Splice_Site_p.R911_splice|ARID1A_uc001bmu.1_Splice_Site_p.R911_splice|ARID1A_uc001bmw.1_Splice_Site_p.R528_splice	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	911					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAAAACAGGTAAGGCCTGGG	0.512000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									13			6		0	0	3.59834e-05	0	0
MAP4K1	11184	broad.mit.edu	37	19	39078451	39078451	+	Nonstop_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:39078451T>C	uc002oix.1	-	31	2609	c.2501A>G	c.(2500-2502)tAg>tGg	p.*834W	MAP4K1_uc002oiy.1_Silent_p.V801V	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	0					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCTCCACCACTACAGGCCTGT	0.473000														31			13		0	0	7.07596e-05	0	0
UNC5C	8633	broad.mit.edu	37	4	96166144	96166144	+	Silent	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr4:96166144A>G	uc003hto.3	-	5	1280	c.927T>C	c.(925-927)tgT>tgC	p.C309C	UNC5C_uc010ilc.2_Silent_p.C309C|UNC5C_uc003htq.3_Silent_p.C309C	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	309	TSP type-1 1.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATAACGTAGTACAGGCTATTT	0.443000														58			11		0	0	3.86212e-05	0	0
DENND4C	55667	broad.mit.edu	37	9	19361850	19361850	+	Silent	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr9:19361850C>T	uc003znq.3	+	24	4638	c.4558C>T	c.(4558-4560)Ctg>Ttg	p.L1520L	DENND4C_uc011lnc.2_Silent_p.L850L|DENND4C_uc011lnd.2_Silent_p.L808L|DENND4C_uc003znr.3_Silent_p.L808L|DENND4C_uc003zns.3_Silent_p.L702L	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1520						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTAGCTTCCTCTGTCATCTCT	0.363000														28			55		0	0	0.000147903	0	0
NAV1	89796	broad.mit.edu	37	1	201763696	201763696	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:201763696A>G	uc021phi.1	+	14	3855	c.3508A>G	c.(3508-3510)Aca>Gca	p.T1170A	NAV1_uc001gwu.3_Missense_Mutation_p.T1170A|NAV1_uc001gwv.1_Missense_Mutation_p.T695A|NAV1_uc001gww.2_Missense_Mutation_p.T771A|NAV1_uc001gwx.3_Missense_Mutation_p.T779A|NAV1_uc001gwy.1_Missense_Mutation_p.T543A	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1170					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTCAGAAACCACACCCAAAGG	0.473000														30			10		0	0	6.40141e-05	0	0
DNAH9	1770	broad.mit.edu	37	17	11583132	11583132	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:11583132G>A	uc002gne.3	+	17	3480	c.3412G>A	c.(3412-3414)Gaa>Aaa	p.E1138K	DNAH9_uc010coo.3_Missense_Mutation_p.E432K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1138	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGAAAGTTGAAAAAGGAGA	0.428000														120			44		0	0	0.000147903	0	0
RAB34	83871	broad.mit.edu	37	17	27042505	27042505	+	Silent	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:27042505G>A	uc010was.1	-	6	572	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	RAB34_uc002hce.2_Silent_p.L134L|RAB34_uc002hcg.2_Silent_p.L134L|RAB34_uc010wat.1_Silent_p.L191L|RAB34_uc002hch.2_Silent_p.L134L|RAB34_uc010wau.1_Silent_p.L112L|RAB34_uc010wav.1_Silent_p.L192L	NM_001144943	NP_114140	Q9BZG1	RAB34_HUMAN	Homo sapiens RAB34, member RAS oncogene family (RAB34), transcript variant 8, mRNA.	134					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					ACATCATTCAGGTTGAAGACA	0.502000														45			10		0	0	6.40141e-05	0	0
CABP1	9478	broad.mit.edu	37	12	121098957	121098957	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:121098957C>A	uc001tyu.3	+	4	1090	c.1023C>A	c.(1021-1023)caC>caA	p.H341Q	CABP1_uc001tyv.3_Missense_Mutation_p.H198Q|CABP1_uc001tyw.3_Missense_Mutation_p.H138Q|CABP1_uc001tyx.3_Missense_Mutation_p.H183Q	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	Homo sapiens calcium binding protein 1 (CABP1), transcript variant 3, mRNA.	341	EF-hand 4.					Golgi apparatus|cell cortex|cell junction|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGTGGGACACCGAGACATAG	0.522000														335			87		3.59693e-26	1.32895e-24	0.000147903	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16863173	16863173	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr11:16863173C>T	uc010rcu.1	-	8	808	c.793G>A	c.(793-795)Gac>Aac	p.D265N	PLEKHA7_uc001mmo.3_Missense_Mutation_p.D265N	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	265	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCCTGGGTGTCGGCACTGAAG	0.587000														20			30		0	0	5.84002e-05	0	0
ZBTB16	7704	broad.mit.edu	37	11	114121168	114121168	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr11:114121168A>G	uc001pop.3	+	6	2177	c.1913A>G	c.(1912-1914)tAc>tGc	p.Y638C	ZBTB16_uc001poq.3_Missense_Mutation_p.Y638C	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	638					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGCACAGAGTACTGCCCCAGC	0.612000														21			8		0	0	0.000274275	0	0
LEPR	3953	broad.mit.edu	37	1	66083654	66083654	+	Silent	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:66083654C>T	uc001dci.3	+	15	2609	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	LEPR_uc001dcg.3_Silent_p.I740I|LEPR_uc001dch.3_Silent_p.I740I|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Silent_p.I740I|LEPR_uc001dcj.3_Silent_p.I740I|LEPR_uc001dck.3_Silent_p.I740I	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	740	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CAGTAAATATCGTGCAGTCAC	0.303000														48			14		0	0	0.000219431	0	0
TBC1D29	26083	broad.mit.edu	37	17	28890334	28890334	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:28890334G>A	uc002hfh.3	+	4	1035	c.344G>A	c.(343-345)aGg>aAg	p.R115K	TBC1D29_uc002hfi.3_Non-coding_Transcript	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	Homo sapiens TBC1 domain family, member 29 (TBC1D29), mRNA.	115						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				ACTCCTCCAAGGGTGCCAGGA	0.572000														23			6		0	0	3.59834e-05	0	0
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:31237922G>C	uc001rjt.1	+	4	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	167	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding	p.R167T(18)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612000										Multiple Myeloma(12;0.14)				8			3		0	0	0.00024832	0	0
SOS2	6655	broad.mit.edu	37	14	50605367	50605367	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr14:50605367T>C	uc001wxs.4	-	17	3019	c.2921A>G	c.(2920-2922)aAt>aGt	p.N974S	SOS2_uc010tql.2_Missense_Mutation_p.N941S|SOS2_uc010tqm.1_Non-coding_Transcript	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	974	Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GTAAGGCTGATTCTGATACTG	0.313000														41			12		0	0	2.31682e-05	0	0
POLR3H	171568	broad.mit.edu	37	22	41928710	41928710	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr22:41928710T>C	uc003baf.3	-	3	313	c.248A>G	c.(247-249)gAg>gGg	p.E83G	POLR3H_uc003bag.2_Missense_Mutation_p.E83G|POLR3H_uc003bai.2_Intron	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) (POLR3H), transcript variant 1, mRNA.	83					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						AATGAGAATCTCATCTAGGAA	0.557000											OREG0026590	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		128			22		0	0	0.000117367	0	0
TANC1	85461	broad.mit.edu	37	2	160042337	160042337	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:160042337G>A	uc002uag.3	+	14	2820	c.2546G>A	c.(2545-2547)cGt>cAt	p.R849H	TANC1_uc010zcm.2_Missense_Mutation_p.R841H|TANC1_uc010fom.1_Missense_Mutation_p.R655H	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	849						cell junction|postsynaptic density|postsynaptic membrane	binding	p.R849H(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATGTTCTCGCGTCAGGAGGGC	0.572000											OREG0015033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			20		0	0	4.16121e-05	0	0
LRRN1	57633	broad.mit.edu	37	3	3888346	3888346	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:3888346C>T	uc003bpt.4	+	1	2782	c.2021C>T	c.(2020-2022)tCa>tTa	p.S674L	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.S674L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	674						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AAAACCTCTTCAATCCCACTA	0.438000														20			16		0	0	0.000132079	0	0
STYXL1	51657	broad.mit.edu	37	7	75625914	75625914	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:75625914A>C	uc003uel.3	-	8	1157	c.814T>G	c.(814-816)Tcc>Gcc	p.S272A	STYXL1_uc003uef.3_Missense_Mutation_p.S62A|STYXL1_uc011kgg.2_Missense_Mutation_p.V86G|STYXL1_uc003ueh.3_Missense_Mutation_p.S134A|STYXL1_uc011kgf.2_Missense_Mutation_p.V96G|STYXL1_uc003uek.4_Missense_Mutation_p.S176A|STYXL1_uc003uem.3_Missense_Mutation_p.S272A|TMEM120A_uc003ued.3_5'Flank|TMEM120A_uc003uec.2_5'Flank|TMEM120A_uc022agl.1_5'Flank	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	272	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TAGGCCCAGGACCTCTATGAA	0.488000														52			11		0	0	0.000219431	0	0
CCNL1	57018	broad.mit.edu	37	3	156866121	156866121	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:156866121T>C	uc003fbf.3	-	10	2089	c.1490A>G	c.(1489-1491)gAc>gGc	p.D497G	CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.3_Missense_Mutation_p.D291G|CCNL1_uc003fbg.3_Non-coding_Transcript|CCNL1_uc011bor.2_Non-coding_Transcript	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	Homo sapiens cyclin L1 (CCNL1), mRNA.	497					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TTCACGCCTGTCCCTATGATG	0.512000														100			5		0	0	1.23904e-05	0	0
WRAP73	49856	broad.mit.edu	37	1	3551604	3551604	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:3551604A>G	uc001ako.3	-	7	881	c.773T>C	c.(772-774)aTc>aCc	p.I258T	WRAP73_uc001akn.3_Missense_Mutation_p.I258T|WRAP73_uc010nzi.2_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.	258						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AAACTCCGTGATCATTTTCCA	0.562000														95			32		0	0	0.000228196	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1842704	1842704	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr8:1842704C>T	uc003wpr.3	+	12	1584	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	ARHGEF10_uc003wpq.1_Missense_Mutation_p.S494F|ARHGEF10_uc003wps.3_Missense_Mutation_p.S431F|ARHGEF10_uc003wpt.3_Missense_Mutation_p.S345F|ARHGEF10_uc003wpv.3_Missense_Mutation_p.S202F|ARHGEF10_uc010lre.3_Missense_Mutation_p.S149F	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	494	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GAGTGGGACTCCGTGGAAATG	0.552000														20			23		0	0	9.22233e-05	0	0
COL4A4	1286	broad.mit.edu	37	2	227915858	227915858	+	Silent	SNP	G	T	T	rs79261248	by1000genomes	TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:227915858G>T	uc021vxr.1	-	31	3086	c.2985C>A	c.(2983-2985)ccC>ccA	p.P995P	COL4A4_uc021vxs.1_Silent_p.P995P	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	995	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTTGCATCCCGGGAGTTCCTT	0.517000														77			8		3.07112e-06	0.000109807	6.40141e-05	1	0
ECE2	9718	broad.mit.edu	37	3	184001600	184001600	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:184001600G>A	uc003fni.4	+	7	1236	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	ECE2_uc011brh.1_Missense_Mutation_p.E253K|ECE2_uc003fnl.4_Missense_Mutation_p.E328K|ECE2_uc003fnm.4_Missense_Mutation_p.E282K|ECE2_uc003fnk.4_Missense_Mutation_p.E253K|ECE2_uc011bri.1_Missense_Mutation_p.E315K|ECE2_uc010hxv.3_Missense_Mutation_p.E44K	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	400	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGATTACATGGAGGAACTGGG	0.592000														3			8		0	0	0.000274275	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40694	40694	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chrGL000218.1:40694C>T	uc011mfn.2	-	2	325	c.236G>A	c.(235-237)cGc>cAc	p.R79H	LOC100233156_uc003jah.2_Missense_Mutation_p.R79H					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TTCCTCACAGCGGCGCCCGAA	0.667000														9			4		0	0	1.23904e-05	0	0
SRRM3	222183	broad.mit.edu	37	7	75912381	75912381	+	Silent	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:75912381G>A	uc010ldi.2	+	13	1904	c.1695G>A	c.(1693-1695)cgG>cgA	p.R565R	SRRM3_uc003uet.1_5'UTR|SRRM3_uc022agm.1_5'Flank	NM_001110199	NP_001103669			Homo sapiens serine/arginine repetitive matrix 3 (SRRM3), mRNA.											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						AGCGGCGCCGGGACTCGCCAA	0.746000														1			17		0	0	0.000175454	0	0
VWA7	80737	broad.mit.edu	37	6	31743739	31743739	+	Splice_Site	SNP	A	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:31743739A>T	uc011dog.2	-	3	751	c.513_splice	c.e3+1	p.Q171_splice	VWA7_uc003nxd.2_Intron|VWA7_uc011doh.1_Splice_Site	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	171						extracellular region											CCCTGTTCTCACCTGCAGGGC	0.642000														52			32		0	0	0.000159656	0	0
SEC23B	10483	broad.mit.edu	37	20	18526600	18526600	+	Splice_Site	SNP	T	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr20:18526600T>G	uc002wra.2	+	15	2127	c.1666_splice	c.e15-1	p.C556_splice	SEC23B_uc010zsb.2_Splice_Site_p.C538_splice|SEC23B_uc002wrb.2_Splice_Site_p.C556_splice|SEC23B_uc002wqz.2_Splice_Site_p.C556_splice|SEC23B_uc002wrc.2_Splice_Site_p.C556_splice	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	556					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CTTTCCATAGTGTCAAAAGTT	0.323000														97			49		0	0	0.000147903	0	0
CNTN2	6900	broad.mit.edu	37	1	205039135	205039135	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:205039135C>T	uc001hbr.3	+	17	2646	c.2377C>T	c.(2377-2379)Cgc>Tgc	p.R793C	CNTN2_uc001hbq.1_Missense_Mutation_p.R684C|CNTN2_uc001hbs.3_Missense_Mutation_p.R581C	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	793	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGCTACAACCGCCGCGGGGA	0.667000														12			14		0	0	2.31682e-05	0	0
OLR1	4973	broad.mit.edu	37	12	10313476	10313476	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:10313476A>G	uc001qxo.1	-	3	587	c.473T>C	c.(472-474)tTt>tCt	p.F158S	OLR1_uc010sgz.1_Intron|OLR1_uc021qvb.1_Missense_Mutation_p.F158S|OLR1_uc010sha.1_Intron	NM_002543	NP_002534	P78380	OLR1_HUMAN	Homo sapiens oxidized low density lipoprotein (lectin-like) receptor 1 (OLR1), transcript variant 1, mRNA.	158	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCCCGAGGAAAATAGGTAACA	0.428000														107			26		0	0	0.000184323	0	0
MON1B	22879	broad.mit.edu	37	16	77232194	77232194	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr16:77232194A>G	uc002fez.3	+	5	1963	c.1633A>G	c.(1633-1635)Act>Gct	p.T545A	MON1B_uc010vnf.2_Missense_Mutation_p.T436A|MON1B_uc010vng.2_Missense_Mutation_p.T399A|MON1B_uc002ffa.3_Missense_Mutation_p.T425A|SYCE1L_uc010vnh.1_5'Flank	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	545							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TGGCTTGTTCACTGGACTCTG	0.537000														30			14		0	0	0.000151284	0	0
MCTP1	79772	broad.mit.edu	37	5	94050566	94050566	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr5:94050566T>C	uc003kkx.2	-	19	2636	c.2636A>G	c.(2635-2637)aAt>aGt	p.N879S	MCTP1_uc003kkv.2_Missense_Mutation_p.N658S|MCTP1_uc003kkw.2_Missense_Mutation_p.N572S|MCTP1_uc003kku.2_Missense_Mutation_p.N395S	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	879					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATAGATTTTATTTATAAATCC	0.378000														85			13		0	0	0.000151284	0	0
TRHDE	29953	broad.mit.edu	37	12	72863541	72863541	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:72863541T>C	uc001sxa.3	+	3	1214	c.1184T>C	c.(1183-1185)cTt>cCt	p.L395P		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	395					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.L395I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTCTAGATCTTTTAGCTGTG	0.353000														88			16		0	0	9.7654e-05	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50661002	50661002	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr22:50661002A>G	uc003bkb.1	-	13	2802	c.2290T>C	c.(2290-2292)Tac>Cac	p.Y764H	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Intron|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	764					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGCTTGCTGTAGTGGTCGACC	0.597000														54			5		0	0	8.12818e-05	0	0
USP37	57695	broad.mit.edu	37	2	219360645	219360645	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:219360645A>G	uc010fvs.1	-	13	1723	c.1310T>C	c.(1309-1311)tTg>tCg	p.L437S	USP37_uc002vie.2_Missense_Mutation_p.L437S|USP37_uc010zkf.1_Missense_Mutation_p.L437S|USP37_uc002vif.2_Missense_Mutation_p.L437S|USP37_uc002vig.2_Missense_Mutation_p.L365S	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	437					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CAGCTGGTCCAAACACTGACT	0.348000														101			13		0	0	0.00010058	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471868	61471868	+	Silent	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr18:61471868G>A	uc002ljl.3	+	7	1238	c.1142G>A	c.(1141-1143)tGa>tAa	p.*381*	SERPINB7_uc002ljm.3_Silent_p.*381*|SERPINB7_uc010xet.2_Silent_p.*364*|SERPINB7_uc010dqg.3_Silent_p.*381*	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	0					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCTTGCCCTTGAAAATCCAAT	0.403000														6			34		0	0	0.000159656	0	0
abParts	0	broad.mit.edu	37	14	106993798	106993798	+	Splice_Site	SNP	C	T	T	rs7146961	by1000genomes	TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr14:106993798C>T	uc021ser.1	-	234		c.9455_splice	c.e234+1							Parts of antibodies, mostly variable regions.																		TCACACTGACCTCCCCTCACT	0.587000														13			5		0	0	8.12818e-05	0	0
HIST1H2AG	8969	broad.mit.edu	37	6	27101078	27101078	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:27101078G>C	uc003niw.3	+	0	262	c.228G>C	c.(226-228)aaG>aaC	p.K76N	HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.3_5'Flank	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN	Homo sapiens histone cluster 1, H2ag (HIST1H2AG), mRNA.	76					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						ACAACAAGAAGACCCGCATCA	0.662000														35			4		0	0	0.00024832	0	0
PSG4	5672	broad.mit.edu	37	19	43411754	43411754	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:43411754C>T	uc002ovj.1	-	3	1058	c.959G>A	c.(958-960)aGt>aAt	p.S320N	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.S160N|PSG4_uc002ovg.1_Missense_Mutation_p.S320N	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	321	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GACTGGGTTACTGCGGATGCC	0.507000														48			18		0	0	7.07596e-05	0	0
LAMA1	284217	broad.mit.edu	37	18	7049160	7049160	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr18:7049160G>A	uc002knm.3	-	4	779	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	229	Laminin N-terminal.			LQ -> FE (in Ref. 3; CAA41418).	axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTAATGCGTTGCAAGCGAAGG	0.478000														50			26		0	0	4.66903e-05	0	0
RTTN	25914	broad.mit.edu	37	18	67742646	67742646	+	Silent	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr18:67742646A>G	uc002lkp.2	-	32	4574	c.4506T>C	c.(4504-4506)tgT>tgC	p.C1502C	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.C590C	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1502							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AATCAAACATACACCGTCCTA	0.308000														69			26		0	0	0.000279167	0	0
GLI3	2737	broad.mit.edu	37	7	42085000	42085000	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:42085000T>C	uc011kbh.2	-	5	900	c.809A>G	c.(808-810)tAt>tGt	p.Y270C	GLI3_uc011kbg.2_Missense_Mutation_p.Y211C	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	270					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGCATGAAGATATTCCATGTG	0.498000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					311			9		0	0	0.000274275	0	0
BAZ1B	9031	broad.mit.edu	37	7	72856840	72856840	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:72856840T>C	uc003tyc.3	-	18	4490	c.4138A>G	c.(4138-4140)Atc>Gtc	p.I1380V	BAZ1B_uc022afu.1_5'Flank	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	1380	Bromo.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGTGCGTGATCACATCATAG	0.522000														92			21		0	0	4.16121e-05	0	0
CNTN2	6900	broad.mit.edu	37	1	205031687	205031687	+	Silent	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:205031687A>G	uc001hbr.3	+	9	1499	c.1230A>G	c.(1228-1230)ctA>ctG	p.L410L	CNTN2_uc001hbq.1_Silent_p.L301L|CNTN2_uc001hbs.3_Silent_p.L198L	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	410	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCGCCGAGCTAGCCGTGCAAG	0.572000														37			5		0	0	8.12818e-05	0	0
ERN1	2081	broad.mit.edu	37	17	62149454	62149454	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:62149454T>C	uc002jdz.2	-	5	478	c.365A>G	c.(364-366)cAg>cGg	p.Q122R		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	122					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCAGATGTCCTGCTTTTTACC	0.448000														22			6		0	0	0.000157383	0	0
WBSCR16	81554	broad.mit.edu	37	7	74482554	74482554	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:74482554T>C	uc003ubr.3	-	2	632	c.506A>G	c.(505-507)gAc>gGc	p.D169G	WBSCR16_uc010lca.3_5'Flank|WBSCR16_uc010lcb.1_Missense_Mutation_p.D169G	NM_030798	NP_110425	Q96I51	WBS16_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 16 (WBSCR16), mRNA.	169										kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CTGAGGTCTGTCCAGAGGCAG	0.567000														38			6		0	0	8.12818e-05	0	0
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:21606712T>C	uc002npw.3	+	3	1370	c.1251T>C	c.(1249-1251)tcT>tcC	p.S417S	ZNF493_uc002npx.3_Silent_p.S289S|ZNF493_uc002npy.3_Silent_p.S289S|ZNF493_uc021urq.1_Silent_p.S289S	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348000														34			3		0	0	6.4e-05	0	0
SLFN5	162394	broad.mit.edu	37	17	33592480	33592480	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:33592480G>T	uc002hjf.4	+	4	2366	c.2249G>T	c.(2248-2250)tGg>tTg	p.W750L	SLFN5_uc010wcg.2_3'UTR	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	750					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GAACCTAAATGGGCTCAAGGT	0.458000														81			8		1.58986e-06	5.72145e-05	3.86212e-05	1	0
PMS1	5378	broad.mit.edu	37	2	190719501	190719501	+	Silent	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:190719501A>G	uc002urh.4	+	8	2032	c.1503A>G	c.(1501-1503)ggA>ggG	p.G501G	PMS1_uc010zga.1_Silent_p.G462G|PMS1_uc010zgb.1_Silent_p.G440G|PMS1_uc002urk.4_Silent_p.G462G|PMS1_uc002uri.4_Silent_p.G501G|PMS1_uc010zgc.2_Silent_p.G325G|PMS1_uc010zgd.2_Silent_p.G325G|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Silent_p.G462G|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Silent_p.G286G|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_Silent_p.G169G	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	501			G -> R (in incomplete HNPCC3; dbSNP:rs1145232).		mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAGCAGGGGAAATATACTTA	0.343000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						54			13		0	0	0.00010058	0	0
SPAG17	200162	broad.mit.edu	37	1	118558773	118558773	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:118558773G>A	uc001ehk.2	-	28	4170	c.4102C>T	c.(4102-4104)Cat>Tat	p.H1368Y		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1368						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCACCCTTATGGGCCATTGAT	0.393000														62			28		0	0	0.000279167	0	0
GABRB3	2562	broad.mit.edu	37	15	26793000	26793000	+	Silent	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr15:26793000G>A	uc001zbb.3	-	9	1633	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	GABRB3_uc021sgg.1_Silent_p.I383I|GABRB3_uc021sgh.1_Silent_p.I369I|GABRB3_uc001zaz.3_Silent_p.I454I|GABRB3_uc001zba.3_Silent_p.I454I	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	454					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGGAAACACGATCCTGGACC	0.398000														52			27		0	0	0.000227799	0	0
PARVB	29780	broad.mit.edu	37	22	44528816	44528816	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr22:44528816T>C	uc003bem.3	+	6	789	c.659T>C	c.(658-660)gTc>gCc	p.V220A	PARVB_uc003ben.3_Missense_Mutation_p.V187A|PARVB_uc010gzn.3_Missense_Mutation_p.V135A|PARVB_uc003beo.3_Missense_Mutation_p.V150A	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	187					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				CACCTGCTGGTCTCTCTGGCC	0.597000														78			7		0	0	0.000157383	0	0
MUC17	140453	broad.mit.edu	37	7	100685390	100685390	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:100685390A>G	uc003uxp.1	+	2	10746	c.10693A>G	c.(10693-10695)Act>Gct	p.T3565A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3565	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGGTCACCACTATGCGTAT	0.468000														347			10		0	0	6.40141e-05	0	0
GYS2	2998	broad.mit.edu	37	12	21712632	21712632	+	Silent	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr12:21712632A>G	uc001rfb.3	-	8	1437	c.1182T>C	c.(1180-1182)caT>caC	p.H394H		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	394					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTTCACAGAATGTGCAACAT	0.303000														56			12		0	0	0.000219431	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494091	21494091	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr20:21494091A>G	uc002wsi.3	-	0	574	c.217T>C	c.(217-219)Tac>Cac	p.Y73H		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	73					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CAGCGCGTGTACGGGTTGTCG	0.682000														36			8		0	0	3.86212e-05	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767728	77767728	+	Silent	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr8:77767728G>A	uc003yau.2	+	9	8958	c.8571G>A	c.(8569-8571)acG>acA	p.T2857T	ZFHX4_uc003yaw.1_Silent_p.T2812T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2812						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCTACCACGGAGGTCTGCG	0.473000										HNSCC(33;0.089)				24			20		0	0	4.16121e-05	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603065	111603065	+	Silent	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:111603065G>A	uc010hqa.3	+	1	552	c.141G>A	c.(139-141)ctG>ctA	p.L47L	PHLDB2_uc003dyc.3_Silent_p.L74L|PHLDB2_uc003dyd.3_Silent_p.L47L|PHLDB2_uc003dyg.3_Silent_p.L47L|PHLDB2_uc003dyh.3_Silent_p.L47L|PHLDB2_uc003dye.4_Silent_p.L47L|PHLDB2_uc003dyf.4_Silent_p.L47L	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	47						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTTCCAGTCTGAGATTTAAAG	0.453000														86			42		0	0	7.51294e-05	0	0
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308000														117			5		0	0	1.23904e-05	0	0
TULP2	7288	broad.mit.edu	37	19	49391383	49391383	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr19:49391383A>G	uc002pkz.2	-	7	923	c.772T>C	c.(772-774)Tcc>Ccc	p.S258P		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	258					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ATTGCCAAGGAGGCTTCGTGC	0.627000														23			5		0	0	1.23904e-05	0	0
TMEM214	54867	broad.mit.edu	37	2	27263000	27263000	+	Silent	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr2:27263000C>T	uc002ria.4	+	14	1835	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	TMEM214_uc002rib.4_Silent_p.F530F	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	575						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CAGTCAGCTTCCTTTCTGCCC	0.612000														32			27		0	0	0.000147802	0	0
DNAH9	1770	broad.mit.edu	37	17	11648356	11648356	+	Silent	SNP	G	A	A			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr17:11648356G>A	uc002gne.3	+	30	6422	c.6354G>A	c.(6352-6354)gcG>gcA	p.A2118A	DNAH9_uc010coo.3_Silent_p.A1412A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2118	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTAGGAAGGCGATAGTGGATC	0.517000														58			22		0	0	0.000117367	0	0
IFT140	9742	broad.mit.edu	37	16	1612079	1612079	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr16:1612079C>G	uc002cmb.3	-	17	2468	c.2106G>C	c.(2104-2106)gaG>gaC	p.E702D	IFT140_uc002clz.3_Missense_Mutation_p.E353D	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	702										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGAAGCCGTGCTCTTCGGAAA	0.453000														21			37		0	0	0.000191422	0	0
SLC31A2	1318	broad.mit.edu	37	9	115925079	115925079	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr9:115925079T>C	uc004bgq.3	+	3	431	c.314T>C	c.(313-315)gTc>gCc	p.V105A		NM_001860	NP_001851	O15432	COPT2_HUMAN	Homo sapiens solute carrier family 31 (copper transporters), member 2 (SLC31A2), mRNA.	105						integral to plasma membrane	copper ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7						ATCCAGGTGGTCATCGGCTAC	0.473000														171			10		0	0	6.40141e-05	0	0
STX12	23673	broad.mit.edu	37	1	28148824	28148824	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr1:28148824T>C	uc001bou.4	+	8	940	c.815T>C	c.(814-816)gTt>gCt	p.V272A		NM_177424	NP_803173	Q86Y82	STX12_HUMAN	Homo sapiens syntaxin 12 (STX12), mRNA.	272					cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTGGCTAGTTTATAAAACG	0.413000														89			30		0	0	0.000279167	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104341	26104341	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr6:26104341C>G	uc003ngi.3	+	0	166	c.166C>G	c.(166-168)Cga>Gga	p.R56G		NM_003542	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4c (HIST1H4C), mRNA.	56					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TGAGGAGACTCGAGGTGTGCT	0.522000														28			9		0	0	3.86212e-05	0	0
PRSS50	29122	broad.mit.edu	37	3	46753939	46753939	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr3:46753939C>T	uc003cqe.1	-	5	1437	c.955G>A	c.(955-957)Gag>Aag	p.E319K	PRSS50_uc021wxe.1_Missense_Mutation_p.E319K|PRSS50_uc003cqf.2_Missense_Mutation_p.E233K	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	319	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CACGTGCCCTCCATGGAGCAG	0.627000														15			5		0	0	1.23904e-05	0	0
SGCE	8910	broad.mit.edu	37	7	94214819	94214819	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr7:94214819A>G	uc003unm.2	-	11	1492	c.1381T>C	c.(1381-1383)Tat>Cat	p.Y461H	SGCE_uc003unl.2_Missense_Mutation_p.Y436H|SGCE_uc003unn.2_Silent_p.G438G|SGCE_uc011kic.1_Missense_Mutation_p.Y395H	NM_001099401	NP_001092871	O43556	SGCE_HUMAN	Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 1, mRNA.	436					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTCAGGGATACCATTTACCT	0.353000														417			79		0	0	0.000147903	0	0
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr4:1019055_1019056delCA	uc003gce.3	+	6	1596_1597	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_uc003gcf.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.3_Frame_Shift_Del_p.H479fs	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													---	4	---	---	2	---					
RNF169	254225	broad.mit.edu	37	11	74547223	74547223	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr11:74547223delA	uc001ovl.4	+	5	1588	c.1575delA	c.(1573-1575)ccafs	p.P525fs	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	Homo sapiens ring finger protein 169 (RNF169), mRNA.	525							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CTGAGATCCCACTGGAAACCT	0.488													---	71	---	---	21	---					
POLG	5428	broad.mit.edu	37	15	89876433	89876433	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr15:89876433delC	uc002bns.4	-	1	835	c.553delG	c.(553-555)gtafs	p.V185fs	POLG_uc002bnr.4_Frame_Shift_Del_p.V185fs|TRNA_Arg_uc021sue.1_5'Flank	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	185					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GCCACGGGTACGGCCTCCCCC	0.716								DNA polymerases (catalytic subunits)					---	5	---	---	6	---					
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	-	-			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chr22:38120323_38120325delCCT	uc003atr.3	+	6	2031_2033	c.1760_1762delCCT	c.(1759-1764)gcctcc>gcc	p.S589del	TRIOBP_uc003atu.3_In_Frame_Del_p.S417del|TRIOBP_uc003atq.1_In_Frame_Del_p.S589del|TRIOBP_uc003ats.1_In_Frame_Del_p.S417del	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	589					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.596													---	226	---	---	7	---					
FRMD8P1	83957	broad.mit.edu	37	X	64771512	64771512	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A19B-06A-11D-A196-08	TCGA-ER-A19B-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a07820-df6e-4f43-9ce6-71f96e9dd46c	a86f5fe8-b66a-4c73-95eb-3e17a8b7bae1	g.chrX:64771512delC	uc022bye.1	-	0	790	c.661delG	c.(661-663)gccfs	p.A221fs						Homo sapiens FERM domain containing 8 pseudogene 1 (FRMD8P1), non-coding RNA.																		CCGGCCCTGGCCCCACGGCCC	0.711													---	4	---	---	2	---