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
CUX2	23316	broad.mit.edu	37	12	111776230	111776230	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:111776230C>T	uc001tsa.2	+	19	3491	c.3337C>T	c.(3337-3339)Ccc>Tcc	p.P1113S		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1113						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTCAATGACCCCCATAACGT	0.587000														25			25		0	0	0.027356	0	0
FIG4	9896	broad.mit.edu	37	6	110088053	110088053	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr6:110088053G>A	uc003ptt.2	+	14	1920	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N	FIG4_uc011eau.1_Missense_Mutation_p.D292N	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	569					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GCACTCCAAAGACATCATGCA	0.388000														51			14		0	0	0.024245	0	0
ACMSD	130013	broad.mit.edu	37	2	135616917	135616917	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr2:135616917G>A	uc002ttz.3	+	2	256	c.189G>A	c.(187-189)atG>atA	p.M63I	ACMSD_uc002tua.3_Nonsense_Mutation_p.W22*	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	63					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTAGAGAAATGGACCAAAAAG	0.423000														44			7		0	0	0.006214	0	0
ACVRL1	94	broad.mit.edu	37	12	52309043	52309043	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:52309043G>A	uc001rzj.3	+	6	1090	c.807G>A	c.(805-807)tcG>tcA	p.S269S	ACVRL1_uc001rzk.3_Silent_p.S269S|ACVRL1_uc010snm.2_Silent_p.S95S	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	269	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCCGCAACTCGAGCACGCAGC	0.612000														12			31		0	0	0.054565	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110376846	110376846	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr8:110376846G>A	uc003yne.3	+	1	248	c.144G>A	c.(142-144)agG>agA	p.R48R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	48	IPT/TIG 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.T47K(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAGCAACAAGGCTGACTATAA	0.328000										HNSCC(38;0.096)				6			5		0	0	0.014758	0	0
DCLK3	85443	broad.mit.edu	37	3	36759615	36759615	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr3:36759615G>A	uc003cgi.2	-	3	2130	c.1639C>T	c.(1639-1641)Ctg>Ttg	p.L547L		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	547	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AAGCCACACAGCAGGATATAG	0.577000														52			39		0	0	0.039052	0	0
SYT10	341359	broad.mit.edu	37	12	33579303	33579303	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:33579303G>A	uc001rll.1	-	1	576	c.279C>T	c.(277-279)atC>atT	p.I93I	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	93						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GAAGCGTAGTGATGTTGGAAG	0.423000														18			13		0	0	0.016723	0	0
HIF1A	3091	broad.mit.edu	37	14	62205061	62205061	+	Silent	SNP	C	T	T	rs149282253		TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr14:62205061C>T	uc001xfq.2	+	9	1910	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S	HIF1A_uc001xfr.2_Silent_p.S502S|HIF1A_uc001xfs.2_Silent_p.S503S|HIF1A_uc021rua.1_Silent_p.S526S	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	502	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		CTAGTCCTTCCGATGGAAGCA	0.378000														125			100		0	0	0.048971	0	0
TIMELESS	8914	broad.mit.edu	37	12	56814624	56814625	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:56814624_56814625GG>AA	uc001slf.2	-	24	3249_3250	c.3081_3082CC>TT	c.(3079-3084)atccga>atTTga	p.R1028*		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	1028					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCAGCTGCTCGGATCAGGCAGT	0.525000														44			14		0	0	0.004672	0	0
HLCS	3141	broad.mit.edu	37	21	38269242	38269242	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr21:38269242G>A	uc010gnb.3	-	6	2783	c.1369C>T	c.(1369-1371)Cgc>Tgc	p.R457C	HLCS_uc021wjb.1_Missense_Mutation_p.R457C|HLCS_uc002yvs.3_Missense_Mutation_p.R457C	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	457					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGATTTTGGCGATAGATCTCT	0.468000														35			10		0	0	0.006214	0	0
ACVR1	90	broad.mit.edu	37	2	158634711	158634711	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr2:158634711G>A	uc002tzn.3	-	4	905	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	ACVR1_uc002tzm.3_Missense_Mutation_p.P159S|ACVR1_uc010fog.2_Missense_Mutation_p.P159S	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	159					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	ATP binding|SMAD binding|activin binding|follistatin binding|metal ion binding|protein homodimerization activity|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	ACGTCTCGGGGATTGAGGCGT	0.493000														29			20		0	0	0.018920	0	0
MAGI2	9863	broad.mit.edu	37	7	77708388	77708388	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr7:77708388G>A	uc003ugx.3	-	20	3836	c.3582C>T	c.(3580-3582)atC>atT	p.I1194I	MAGI2_uc003ugy.3_Silent_p.I1180I|MAGI2_uc010ldx.1_Silent_p.I787I	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1194	PDZ 6.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGATTTCAATGATTTGATCTC	0.393000														115			76		0	0	0.048971	0	0
DNAH17	8632	broad.mit.edu	37	17	76533472	76533472	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr17:76533472C>T	uc010dhp.2	-	18	2893	c.2768G>A	c.(2767-2769)gGc>gAc	p.G923D		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCCAGGAAGCCGCGATCTGA	0.587000														4			4		0	0	0.021553	0	0
C5orf42	65250	broad.mit.edu	37	5	37196031	37196031	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr5:37196031C>T	uc011cpa.1	-	20	3971	c.3740G>A	c.(3739-3741)gGa>gAa	p.G1247E	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.G322E|C5orf42_uc011cpb.1_Missense_Mutation_p.G128E	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1247										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGCGATACCTCCTTTACAGTA	0.378000														30			28		0	0	0.030593	0	0
CDH18	1016	broad.mit.edu	37	5	19473754	19473754	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr5:19473754G>A	uc003jgd.3	-	12	2488	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.R652W|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	652					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACGTTCTCCCGTACATCCTCT	0.478000														145			40		0	0	0.033182	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648870	41648871	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr4:41648870_41648871CC>TT	uc003gvz.4	+	16	3197_3198	c.2780_2781CC>TT	c.(2779-2781)tcc>tTT	p.S927F	LIMCH1_uc003gwe.4_Missense_Mutation_p.S542F|LIMCH1_uc003gvu.4_Missense_Mutation_p.S542F|LIMCH1_uc003gvv.4_Missense_Mutation_p.S542F|LIMCH1_uc003gvw.4_Missense_Mutation_p.S542F|LIMCH1_uc003gvx.4_Missense_Mutation_p.S530F|LIMCH1_uc003gvy.4_Missense_Mutation_p.S371F|LIMCH1_uc003gwa.4_Missense_Mutation_p.S383F|LIMCH1_uc011byu.2_Missense_Mutation_p.S376F|LIMCH1_uc003gwc.4_Missense_Mutation_p.S388F|LIMCH1_uc003gwd.4_Missense_Mutation_p.S376F|LIMCH1_uc011byv.2_Missense_Mutation_p.S293F	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	542					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AAGCCTTACTCCCAGCCCAAAA	0.490000														45			37		0	0	0.004672	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648816	41648816	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr4:41648816C>A	uc003gvz.4	+	16	3143	c.2726C>A	c.(2725-2727)cCa>cAa	p.P909Q	LIMCH1_uc003gwe.4_Missense_Mutation_p.P524Q|LIMCH1_uc003gvu.4_Missense_Mutation_p.P524Q|LIMCH1_uc003gvv.4_Missense_Mutation_p.P524Q|LIMCH1_uc003gvw.4_Missense_Mutation_p.P524Q|LIMCH1_uc003gvx.4_Missense_Mutation_p.P512Q|LIMCH1_uc003gvy.4_Missense_Mutation_p.P353Q|LIMCH1_uc003gwa.4_Missense_Mutation_p.P365Q|LIMCH1_uc011byu.2_Missense_Mutation_p.P358Q|LIMCH1_uc003gwc.4_Missense_Mutation_p.P370Q|LIMCH1_uc003gwd.4_Missense_Mutation_p.P358Q|LIMCH1_uc011byv.2_Missense_Mutation_p.P275Q	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	524					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGTGGGTCTCCAAGCAAAACT	0.502000														53			63		6.09941e-20	6.52801e-20	0.048971	1	0
POLR2D	5433	broad.mit.edu	37	2	128608249	128608250	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr2:128608249_128608250GG>AA	uc002tpj.3	-	2	319_320	c.264_265CC>TT	c.(262-267)ctccag>ctTTag	p.Q89*		NM_004805	NP_004796	O15514	RPB4_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide D (POLR2D), mRNA.	89					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding			large_intestine(1)|lung(4)|urinary_tract(1)	6	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)		AGCTTTTTCTGGAGtagcaagc	0.361000														29			27		0	0	0.004672	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127589	117127589	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr6:117127589G>A	uc003pxj.1	-	2	1301	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.R427W	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	427					response to amino acid stimulus		G-protein coupled receptor activity	p.R427Q(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CACAGATCCCGAATGGCATAA	0.458000														16			9		0	0	0.006214	0	0
PLEC	5339	broad.mit.edu	37	8	145001238	145001238	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr8:145001238G>A	uc003zaf.1	-	28	4433	c.4263C>T	c.(4261-4263)ctC>ctT	p.L1421L	PLEC_uc003zab.1_Silent_p.L1284L|PLEC_uc003zac.1_Silent_p.L1288L|PLEC_uc003zad.2_Silent_p.L1284L|PLEC_uc003zae.1_Silent_p.L1252L|PLEC_uc003zag.1_Silent_p.L1262L|PLEC_uc003zah.2_Silent_p.L1270L|PLEC_uc003zaj.2_Silent_p.L1311L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1421	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCACCAGCTGGAGTTCATAGT	0.627000														17			11		0	0	0.010729	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275831	130275831	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr11:130275831C>T	uc001qgg.4	-	8	2650	c.2292G>A	c.(2290-2292)ctG>ctA	p.L764L	ADAMTS8_uc001qgf.3_Silent_p.L245L	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	764	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CGCTGTACTTCAGGATGGTCC	0.617000														29			43		0	0	0.033182	0	0
IARS2	55699	broad.mit.edu	37	1	220275523	220275523	+	Silent	SNP	T	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr1:220275523T>C	uc001hmc.3	+	3	707	c.603T>C	c.(601-603)cgT>cgC	p.R201R	RNU5F-1_uc021pjd.1_Intron	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	201					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CATTTATTCGTTGGGGAATAA	0.313000														40			16		0	0	0.043863	0	0
C15orf2	23742	broad.mit.edu	37	15	24922213	24922213	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr15:24922213C>T	uc001ywo.3	+	0	1673	c.1199C>T	c.(1198-1200)tCt>tTt	p.S400F		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	400	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTGCCCCTTCTTTCTCCCAA	0.532000														23			4		0	0	0.014758	0	0
IKBKAP	8518	broad.mit.edu	37	9	111663953	111663953	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr9:111663953G>A	uc004bdm.4	-	16	2383	c.1863C>T	c.(1861-1863)gtC>gtT	p.V621V	IKBKAP_uc004bdl.3_Silent_p.V272V|IKBKAP_uc011lwc.2_Silent_p.V507V|IKBKAP_uc010mtq.3_Silent_p.V272V	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	621					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCAGACCAAGGACACATTCCT	0.388000														22			8		0	0	0.006214	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956421	143956421	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr8:143956421G>A	uc010mey.3	-	9	1570	c.1563C>T	c.(1561-1563)tgC>tgT	p.C521C	CYP11B1_uc010mex.3_Silent_p.C149C|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Silent_p.C450C|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	450					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCCGCCCAAGGCACTGGCGCA	0.682000									Familial Hyperaldosteronism type I					57			37		0	0	0.027894	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152518	50152518	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr15:50152518T>A	uc001zxu.3	-	27	3594	c.3452A>T	c.(3451-3453)aAa>aTa	p.K1151I	ATP8B4_uc010ber.3_Missense_Mutation_p.K1024I|ATP8B4_uc010ufd.2_Missense_Mutation_p.K961I|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Missense_Mutation_p.K154I	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1151					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGGTGGATTTTTAGCTCGCAT	0.448000														59			19		0	0	0.038395	0	0
COL4A6	1288	broad.mit.edu	37	X	107431170	107431170	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chrX:107431170G>A	uc004enw.4	-	21	1781	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	COL4A6_uc004env.4_Missense_Mutation_p.R559W|COL4A6_uc011msn.2_Missense_Mutation_p.R559W|COL4A6_uc010npk.3_Missense_Mutation_p.R559W	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	560	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.R559W(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GAATCACCCCGATCTCCTGGC	0.537000									Alport syndrome with Diffuse Leiomyomatosis					12			99		0	0	0.048971	0	0
C15orf54	400360	broad.mit.edu	37	15	39544718	39544719	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr15:39544718_39544719GG>AA	uc001zkg.2	+	1	750_751	c.382_383GG>AA	c.(382-384)ggg>AAg	p.G128K	C15orf54_uc021sjb.1_Missense_Mutation_p.G128K	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	128										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TCAGTCTCCTGGGTGGAAGAAC	0.470000														69			28		0	0	0.004672	0	0
TGM6	343641	broad.mit.edu	37	20	2411160	2411160	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr20:2411160C>T	uc002wfy.1	+	10	1808	c.1747C>T	c.(1747-1749)Ctg>Ttg	p.L583L	TGM6_uc010gal.1_Silent_p.L583L	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	583					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CAAGAAGATCCTGTTGGCTGC	0.473000														23			23		0	0	0.012319	0	0
SPEF2	79925	broad.mit.edu	37	5	35793359	35793359	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr5:35793359G>T	uc003jjo.3	+	31	4764	c.4653G>T	c.(4651-4653)gaG>gaT	p.E1551D	SPEF2_uc003jjp.1_Missense_Mutation_p.E1037D|SPEF2_uc003jjr.3_Missense_Mutation_p.E606D	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1551					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCCCTTGGAGGAGGAGCTCC	0.478000														65			16		1.15088e-07	1.21209e-07	0.028581	1	0
KRT20	54474	broad.mit.edu	37	17	39041328	39041328	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr17:39041328C>T	uc002hvl.3	-	0	168	c.110G>A	c.(109-111)gGg>gAg	p.G37E		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	37	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TCCAGCACCCCCATAAACGCT	0.612000														8			34		0	0	0.023175	0	0
CHRDL2	25884	broad.mit.edu	37	11	74415556	74415556	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr11:74415556G>A	uc001ovh.3	-	6	979	c.726C>T	c.(724-726)atC>atT	p.I242I	CHRDL2_uc001ovg.3_Silent_p.I126I|CHRDL2_uc001ovi.3_Silent_p.I242I|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Silent_p.I242I	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	242					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCTTCAGGACGATCTTGACAG	0.637000														37			14		0	0	0.020292	0	0
S100A7	6278	broad.mit.edu	37	1	153430314	153430314	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr1:153430314C>T	uc001fbv.1	-	2	345	c.274G>A	c.(274-276)Gga>Aga	p.G92R		NM_002963	NP_002954	P31151	S10A7_HUMAN	Homo sapiens S100 calcium binding protein A7 (S100A7), mRNA.	92					angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of T cell chemotaxis|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCGCTGCTCCATGGCTCTGC	0.517000														51			19		0	0	0.049695	0	0
NLRP3	114548	broad.mit.edu	37	1	247587726	247587726	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr1:247587726G>A	uc001icr.3	+	4	1119	c.981G>A	c.(979-981)cgG>cgA	p.R327R	NLRP3_uc001ics.3_Silent_p.R327R|NLRP3_uc001icu.3_Silent_p.R327R|NLRP3_uc001icw.3_Silent_p.R327R|NLRP3_uc001icv.3_Silent_p.R327R|NLRP3_uc010pyw.2_Silent_p.R325R|NLRP3_uc001ict.1_Silent_p.R325R	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	327	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.R327G(1)|p.R327P(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGCCGAGCGGGGAGACATTC	0.582000														40			18		0	0	0.038395	0	0
GPR116	221395	broad.mit.edu	37	6	46849211	46849211	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr6:46849211G>A	uc003oyo.3	-	7	1084	c.795C>T	c.(793-795)tcC>tcT	p.S265S	GPR116_uc003oyp.3_Silent_p.S265S|GPR116_uc003oyq.3_Silent_p.S265S|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Silent_p.S265S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	265	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTGCTTGAAAGGAGTTGTAGT	0.353000														45			29		0	0	0.045705	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86548562	86548562	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr7:86548562G>A	uc011kha.2	-	10	1649	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	KIAA1324L_uc003uie.3_Silent_p.I321I|KIAA1324L_uc011kgz.2_Silent_p.I374I|KIAA1324L_uc003uif.2_Silent_p.I240I	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	488						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GCAAGTTTAAGATCAGGTAAT	0.363000														26			16		0	0	0.014323	0	0
CDC123	8872	broad.mit.edu	37	10	12259431	12259431	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr10:12259431G>T	uc001ill.3	+	5	689	c.405G>T	c.(403-405)aaG>aaT	p.K135N		NM_006023	NP_006014	O75794	CD123_HUMAN	Homo sapiens cell division cycle 123 homolog (S. cerevisiae) (CDC123), mRNA.	135					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						TGCTTTTCAAGAGTTCCGATT	0.368000														174			86		1.63549e-45	1.75993e-45	0.048971	1	0
FARSA	2193	broad.mit.edu	37	19	13041108	13041108	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr19:13041108C>T	uc002mvs.2	-	3	480	c.432G>A	c.(430-432)cgG>cgA	p.R144R	FARSA_uc010xmv.1_Silent_p.R144R	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	144					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	p.R144W(1)|p.R144R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCTGTCCCCCCCGGACCAGCT	0.652000														13			36		0	0	0.054565	0	0
SLC34A2	10568	broad.mit.edu	37	4	25676182	25676182	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr4:25676182C>T	uc003grr.3	+	11	1470	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	SLC34A2_uc003grs.3_Silent_p.I462I|SLC34A2_uc010iev.3_Silent_p.I462I	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	463					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTCCAACATCGGCACCACCA	0.592000			T	ROS1	NSCLC									64			19		0	0	0.043863	0	0
PTPRB	5787	broad.mit.edu	37	12	71016398	71016398	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:71016398C>A	uc001swc.4	-	2	525	c.480G>T	c.(478-480)agG>agT	p.R160S	PTPRB_uc001swa.4_Missense_Mutation_p.R160S|PTPRB_uc001swd.4_Missense_Mutation_p.R159S|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Missense_Mutation_p.R160S	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTCTAGTGCTCCTCACCGAAA	0.413000														4			6		0.00198382	0.00205652	0.029380	1	0
CPAMD8	27151	broad.mit.edu	37	19	17025308	17025308	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr19:17025308C>T	uc002nfb.3	-	29	3960	c.3928_splice	c.e29-1	p.G1310_splice		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1263						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGGATCCCACCCTGCAAGGGG	0.612000														18			18		0	0	0.038395	0	0
EPHA6	285220	broad.mit.edu	37	3	97251304	97251304	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr3:97251304G>A	uc010how.1	+	10	2346	c.2303G>A	c.(2302-2304)aGa>aAa	p.R768K	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.R134K|EPHA6_uc003drs.4_Missense_Mutation_p.R160K|EPHA6_uc003drr.4_Missense_Mutation_p.R160K|EPHA6_uc003drt.3_Missense_Mutation_p.R160K|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	673	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.D767Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GATCGGCAAAGAAGAGATTTT	0.438000														29			11		0	0	0.008291	0	0
BEND4	389206	broad.mit.edu	37	4	42145778	42145778	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr4:42145778G>C	uc003gwn.3	-	2	1301	c.721C>G	c.(721-723)Caa>Gaa	p.Q241E	BEND4_uc003gwm.3_Missense_Mutation_p.Q241E|BEND4_uc011byy.1_Missense_Mutation_p.Q241E	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	241								p.A240S(1)|p.F241L(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GCAGAAGTTTGTTGTTTCCTT	0.453000														15			10		0	0	0.008291	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163958	150163958	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr7:150163958G>A	uc003whj.3	+	1	502	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	58						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGTCCTGAGAGAAAGGAAGGT	0.478000														64			82		0	0	0.048971	0	0
PWP1	11137	broad.mit.edu	37	12	108090340	108090341	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:108090340_108090341CC>TT	uc001tmo.1	+	5	679_680	c.592_593CC>TT	c.(592-594)cct>TTt	p.P198F	PWP1_uc001tmn.1_Non-coding_Transcript	NM_007062	NP_008993	Q13610	PWP1_HUMAN	Homo sapiens PWP1 homolog (S. cerevisiae) (PWP1), mRNA.	198					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GAATTTTGATCCTAGCCCAGAT	0.332000														31			19		0	0	0.004672	0	0
LRGUK	136332	broad.mit.edu	37	7	133943150	133943151	+	Missense_Mutation	DNP	CC	TT	TT	rs113393042	byFrequency	TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr7:133943150_133943151CC>TT	uc003vrm.1	+	18	2356_2357	c.2340_2341CC>TT	c.(2338-2343)acccgg>acTTgg	p.R781W		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	781							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CCGAAGAGACCCGGAAAGGTAT	0.559000														22			20		0	0	0.004672	0	0
AHNAK	79026	broad.mit.edu	37	11	62293840	62293840	+	Silent	SNP	A	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr11:62293840A>T	uc001ntl.3	-	4	8349	c.8049T>A	c.(8047-8049)atT>atA	p.I2683I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2683					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGTCCTTCAATGTTAACAT	0.483000														71			22		0	0	0.055883	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436813	72436813	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr17:72436813G>A	uc002jkp.3	+	1	1544	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Missense_Mutation_p.V312I|GPRC5C_uc002jkt.3_Missense_Mutation_p.V300I|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	300						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CATCCCCGAGGTCTCCCAGGT	0.627000														35			36		0	0	0.017118	0	0
CD300A	11314	broad.mit.edu	37	17	72469802	72469802	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr17:72469802C>T	uc002jkv.3	+	1	489	c.168C>T	c.(166-168)ttC>ttT	p.F56F	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	56	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CACAGATTTTCCTATGTGACA	0.557000														64			14		0	0	0.016723	0	0
GALNT8	26290	broad.mit.edu	37	12	4848450	4848450	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:4848450C>T	uc001qne.1	+	2	723	c.631C>T	c.(631-633)Cga>Tga	p.R211*		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	211	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GACGCCCTCTCGATTGTTGAA	0.428000														31			23		0	0	0.018920	0	0
OR2B11	127623	broad.mit.edu	37	1	247615087	247615087	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr1:247615087G>A	uc010pyx.2	-	0	198	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGTGACTGAGGAAGATGTACA	0.572000														73			18		0	0	0.012319	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417268	121417268	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr3:121417268A>T	uc010hrc.3	-	12	2228	c.2102T>A	c.(2101-2103)cTc>cAc	p.L701H	GOLGB1_uc003eei.4_Missense_Mutation_p.L696H|GOLGB1_uc003eej.4_Missense_Mutation_p.L662H|GOLGB1_uc021xcy.1_Missense_Mutation_p.L621H|GOLGB1_uc011bjm.1_Missense_Mutation_p.L582H|GOLGB1_uc010hrd.1_Missense_Mutation_p.L660H	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	696					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTTAGCTCGAGCTCCAAAAT	0.363000														16			10		0	0	0.010729	0	0
ACCS	84680	broad.mit.edu	37	11	44100295	44100295	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr11:44100295C>T	uc009yks.1	+	8	938	c.794C>T	c.(793-795)tCc>tTc	p.S265F	EXT2_uc010rfo.2_Intron|ACCS_uc010rfm.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.S265F	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	265							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GATGTATACTCCCCTGAAGAG	0.587000														11			10		0	0	0.013537	0	0
FIG4	9896	broad.mit.edu	37	6	110088051	110088051	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr6:110088051A>G	uc003ptt.2	+	14	1918	c.1703A>G	c.(1702-1704)aAa>aGa	p.K568R	FIG4_uc011eau.1_Missense_Mutation_p.K291R	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	568					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CAGCACTCCAAAGACATCATG	0.393000														53			14		0	0	0.020292	0	0
CDH10	1008	broad.mit.edu	37	5	24491860	24491860	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr5:24491860C>T	uc003jgr.2	-	10	2207	c.1701G>A	c.(1699-1701)gtG>gtA	p.V567V	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	567	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGTCTGATATCACCACAGGCA	0.398000										HNSCC(23;0.051)				17			23		0	0	0.016522	0	0
STOML3	161003	broad.mit.edu	37	13	39542604	39542604	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr13:39542604C>T	uc001uwx.3	-	5	722	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	STOML3_uc010tez.2_Missense_Mutation_p.R186Q	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	195						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		CACGGGAATCCGAACATCTTT	0.522000														39			28		0	0	0.037714	0	0
RHAG	6005	broad.mit.edu	37	6	49604381	49604381	+	Missense_Mutation	SNP	C	T	T	rs141969178		TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr6:49604381C>T	uc003ozk.4	-	0	207	c.145G>A	c.(145-147)Gag>Aag	p.E49K	RHAG_uc010jzl.3_Missense_Mutation_p.E49K|RHAG_uc010jzm.3_Missense_Mutation_p.E49K	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	49					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					GGATATAACTCAAAGAATATG	0.368000														53			38		0	0	0.033182	0	0
PLA1A	51365	broad.mit.edu	37	3	119334876	119334876	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr3:119334876C>T	uc003ecu.3	+	5	748	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	PLA1A_uc003ecv.3_Missense_Mutation_p.P212S|PLA1A_uc011bjc.2_Missense_Mutation_p.P55S|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	228					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATTCGGATTCCCGTTGGACA	0.522000														10			4		0	0	0.014758	0	0
MYEOV2	150678	broad.mit.edu	37	2	241075674	241075674	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr2:241075674G>A	uc002vyu.1	-	0	91	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	MYEOV2_uc010zof.1_Missense_Mutation_p.P10S	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	10										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCGCCCTCGGGGAACATCTCG	0.736000														8			4		0	0	0.009096	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479006	55479006	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chrX:55479006G>C	uc004dum.3	+	0	469	c.199G>C	c.(199-201)Gaa>Caa	p.E67Q		NM_014061	NP_054780	Q9H213	MAGH1_HUMAN	Homo sapiens melanoma antigen family H, 1 (MAGEH1), mRNA.	67	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						CACCCCTGAAGAAGCCTCGAG	0.587000														31			3		0	0	0.004672	0	0
NDST4	64579	broad.mit.edu	37	4	115767040	115767040	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr4:115767040G>A	uc003ibu.3	-	9	2733	c.2054C>T	c.(2053-2055)cCc>cTc	p.P685L	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	685	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTTGGCTTTGGGGACAAGAGA	0.438000														39			30		0	0	0.041601	0	0
NPSR1	387129	broad.mit.edu	37	7	34698043	34698043	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr7:34698043G>A	uc003teh.1	+	0	147	c.19G>A	c.(19-21)Gag>Aag	p.E7K	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.E7K|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.E7K|NPSR1_uc003tei.1_Missense_Mutation_p.E7K|NPSR1_uc010kww.1_Missense_Mutation_p.E7K|NPSR1_uc011kar.1_Missense_Mutation_p.E7K	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	7						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAACTTCACAGAGGGCAGCTT	0.582000														34			27		0	0	0.030593	0	0
GPR39	2863	broad.mit.edu	37	2	133175121	133175121	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr2:133175121C>T	uc002ttl.3	+	0	975	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	169						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGGCACTGCCCTTGCTGTTT	0.637000														20			14		0	0	0.016723	0	0
BRF1	2972	broad.mit.edu	37	14	105677571	105677571	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr14:105677571C>T	uc001yqp.2	-	16	2247	c.1884G>A	c.(1882-1884)ctG>ctA	p.L628L	BRF1_uc010tyo.1_Silent_p.L513L|BRF1_uc010typ.1_Silent_p.L535L|BRF1_uc001yqk.2_Silent_p.L154L|BRF1_uc001yql.2_Silent_p.L424L|BRF1_uc001yqo.2_Silent_p.L390L|BRF1_uc010axg.1_Silent_p.L601L|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_3'UTR	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	628					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CGCTCTCCACCAGCACCGCCT	0.672000														40			42		0	0	0.033182	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118335	118335	+	RNA	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chrGL000205.1:118335G>A	uc002kgk.4	+	0		c.1713G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGGCTCCAGGAGGACTTCTG	0.542000														20			6		0	0	0.021553	0	0
GRIK2	2898	broad.mit.edu	37	6	102483315	102483315	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr6:102483315C>T	uc003pqp.4	+	13	2478	c.2185C>T	c.(2185-2187)Ctc>Ttc	p.L729F	GRIK2_uc010kcw.3_Missense_Mutation_p.L729F|GRIK2_uc003pqo.4_Missense_Mutation_p.L729F|GRIK2_uc021zdk.1_Missense_Mutation_p.L542F|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	729					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CCAGCGAGTCCTCACCTCTGA	0.443000														93			31		0	0	0.045705	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659653	63659653	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr8:63659653G>A	uc010lyq.1	+	3	568	c.436G>A	c.(436-438)Gag>Aag	p.E146K		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	146						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CCAGTACCTGGAGGTCATCCA	0.468000														16			22		0	0	0.014323	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147027949	147027949	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr5:147027949C>T	uc010jgo.1	-	3	1074	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	JAKMIP2_uc003loq.1_Missense_Mutation_p.R309Q|JAKMIP2_uc011dbx.1_Missense_Mutation_p.R267Q|JAKMIP2_uc003lor.1_Missense_Mutation_p.R309Q|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	309						Golgi apparatus		p.R309*(1)|p.E308A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCATTTCGTTCATCTCC	0.303000														46			17		0	0	0.033300	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866242	131866242	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr7:131866242G>A	uc003vra.4	-	17	3619	c.3390C>T	c.(3388-3390)atC>atT	p.I1130I		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1130	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCTTGTTGAGGATGAGCAGGG	0.592000														87			51		0	0	0.048971	0	0
COL5A3	50509	broad.mit.edu	37	19	10100153	10100153	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr19:10100153C>T	uc002mmq.1	-	24	2124	c.2038G>A	c.(2038-2040)Ggc>Agc	p.G680S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	680	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCAGAGGGCCATCGGATCCT	0.547000														14			9		0	0	0.006214	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18766202	18766203	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr2:18766202_18766203GG>AA	uc010exr.3	-	3	418_419	c.306_307CC>TT	c.(304-309)tcccca>tcTTca	p.P103S	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.P161S|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.P101S|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.P161S|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.P144S|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.P178S|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.P163S|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.P101S|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_5'UTR	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	161	Ser-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										TGCAGGCTTGGGGAGGTGGATG	0.703000														6			4		0	0	0.004672	0	0
LNX2	222484	broad.mit.edu	37	13	28130496	28130496	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr13:28130496G>A	uc001url.4	-	6	1732	c.1423C>T	c.(1423-1425)Cca>Tca	p.P475S	LNX2_uc001urm.1_Missense_Mutation_p.P475S	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	475	PDZ 3.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GATTCATGTGGTTCCTTCTTT	0.438000														13			10		0	0	0.006214	0	0
INPPL1	3636	broad.mit.edu	37	11	71939791	71939791	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr11:71939791C>T	uc001osf.3	+	3	565	c.418C>T	c.(418-420)Ccg>Tcg	p.P140S	INPPL1_uc001osg.3_5'UTR	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	140					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGAGAAGCCCCCGCTGCCCCC	0.652000														8			19		0	0	0.055883	0	0
ARPP21	10777	broad.mit.edu	37	3	35758848	35758848	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr3:35758848C>T	uc011axy.2	+	11	1105	c.893_splice	c.e11+1	p.R298_splice	ARPP21_uc003cga.3_Intron|ARPP21_uc003cgb.3_Splice_Site_p.R332_splice|ARPP21_uc003cgf.3_Splice_Site_p.R133_splice	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	332						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACAGCTCTTTCGGTTGGTATG	0.303000														22			14		0	0	0.020292	0	0
SH3TC1	54436	broad.mit.edu	37	4	8228944	8228944	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr4:8228944C>T	uc003gkv.4	+	11	1624	c.1523C>T	c.(1522-1524)gCc>gTc	p.A508V	SH3TC1_uc003gkw.4_Missense_Mutation_p.A432V|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	508							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TTCCTGAACGCCCCTGGGTAC	0.647000														6			5		0	0	0.014758	0	0
RAD51D	5892	broad.mit.edu	37	17	33428002	33428002	+	Missense_Mutation	SNP	C	T	T	rs147669627		TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr17:33428002C>T	uc010ctj.2	-	5	599	c.412G>A	c.(412-414)Gag>Aag	p.E138K	RFFL_uc002hiq.2_Intron|RFFL_uc002hir.2_Silent_p.Q319Q|RFFL_uc010wce.1_Silent_p.Q200Q|RFFL_uc010wcd.1_Silent_p.Q339Q|RFFL_uc002hit.2_Silent_p.Q200Q|RFFL_uc002hiu.2_Silent_p.Q142Q|RFFL_uc002his.2_Silent_p.Q207Q|RFFL_uc010ctk.2_Silent_p.Q200Q			O75771	RA51D_HUMAN	Homo sapiens RAD51 homolog D (S. cerevisiae) (RAD51D), transcript variant 4, mRNA.	0					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	p.Q319H(1)|p.Q207H(1)|p.Q339H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATGTGGCACTCTGCTCTGAGG	0.527000								Direct reversal of damage						39			47		0	0	0.048971	0	0
DMBT1	1755	broad.mit.edu	37	10	124399762	124399762	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr10:124399762C>T	uc001lgk.1	+	51	6868	c.6762C>T	c.(6760-6762)gaC>gaT	p.D2254D	DMBT1_uc001lgl.1_Silent_p.D2244D|DMBT1_uc001lgm.1_Silent_p.D1626D|DMBT1_uc021qaf.1_Silent_p.D2254D|DMBT1_uc021qag.1_Silent_p.D2244D|DMBT1_uc021qah.1_Silent_p.D1626D|DMBT1_uc009xzz.1_Silent_p.D2253D|DMBT1_uc010qtx.1_Silent_p.D974D|DMBT1_uc009yab.1_Silent_p.D957D|DMBT1_uc009yac.1_Silent_p.D548D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2254	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAATTTTGACGTGAACATTT	0.463000														48			25		0	0	0.021523	0	0
SLC52A3	113278	broad.mit.edu	37	20	744419	744419	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr20:744419G>A	uc002wed.4	-	2	1135	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	SLC52A3_uc002wee.2_Missense_Mutation_p.R266W	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	266					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										TCCCGCGGCCGGATGGAGTGG	0.647000														29			22		0	0	0.014323	0	0
NWD1	284434	broad.mit.edu	37	19	16908608	16908608	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr19:16908608G>A	uc002neu.4	+	15	3792	c.3370G>A	c.(3370-3372)Gat>Aat	p.D1124N	NWD1_uc002net.4_Missense_Mutation_p.D989N|NWD1_uc002nev.4_Missense_Mutation_p.D918N|NWD1_uc021uqg.1_Missense_Mutation_p.D989N	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1124							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATGGCCATGGATCTGGAACA	0.537000														81			88		0	0	0.048971	0	0
ATG4B	23192	broad.mit.edu	37	2	242598521	242598521	+	Splice_Site	SNP	A	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr2:242598521A>T	uc002wbv.3	+	7	562	c.459_splice	c.e7-2	p.K153_splice	ATG4B_uc002wbu.3_Splice_Site_p.K79_splice|ATG4B_uc002wbw.3_Splice_Site_p.K153_splice|ATG4B_uc010zox.2_Splice_Site_p.K139_splice|ATG4B_uc010zoy.2_Splice_Site_p.K79_splice|ATG4B_uc010fzp.3_Splice_Site_p.K153_splice|ATG4B_uc010zoz.2_Splice_Site_p.K79_splice	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog B (S. cerevisiae) (ATG4B), transcript variant 1, mRNA.	153					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TACTCTCTGTAGGAAGCTTGC	0.478000														17			4		0	0	0.009096	0	0
FOLH1	2346	broad.mit.edu	37	11	49175820	49175820	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr11:49175820C>T	uc001ngy.3	-	15	2109	c.1848G>A	c.(1846-1848)atG>atA	p.M616I	FOLH1_uc001ngx.3_Missense_Mutation_p.M48I|FOLH1_uc009yly.3_Missense_Mutation_p.M601I|FOLH1_uc009ylz.3_Missense_Mutation_p.M601I|FOLH1_uc001ngz.3_Missense_Mutation_p.M616I|FOLH1_uc009yma.3_Missense_Mutation_p.M308I	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	616					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTGGATGTTTCATAGAAATAC	0.348000														29			22		0	0	0.016522	0	0
BBS10	79738	broad.mit.edu	37	12	76739666	76739666	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:76739666G>A	uc001syd.1	-	1	2183	c.2099C>T	c.(2098-2100)aCc>aTc	p.T700I		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	700					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CATGTCAATGGTTAATATTTT	0.353000									Bardet-Biedl syndrome					19			19		0	0	0.038395	0	0
CR1	1378	broad.mit.edu	37	1	207803916	207803916	+	Silent	SNP	A	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr1:207803916A>C	uc001hfy.3	+	37	6197	c.6057A>C	c.(6055-6057)ggA>ggC	p.G2019G	CR1_uc001hfx.3_Silent_p.G2469G|CR1_uc021pij.1_Silent_p.G2019G	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	2019					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATTCTCAAGGAGGCAGCAGCG	0.343000														16			4		0	0	0.029380	0	0
KCNT2	343450	broad.mit.edu	37	1	196309582	196309582	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr1:196309582C>T	uc001gtd.1	-	15	1732	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.E508K|KCNT2_uc001gtf.1_Missense_Mutation_p.E558K|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.E558K|KCNT2_uc001gth.1_Missense_Mutation_p.E79K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	558						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAATTCTCTTCTTTGGTAATA	0.353000														31			8		0	0	0.047766	0	0
MGAM	8972	broad.mit.edu	37	7	141740561	141740561	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr7:141740561G>A	uc003vwy.3	+	20	2467	c.2413G>A	c.(2413-2415)Gaa>Aaa	p.E805K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	805	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGTCGAGATGGAACTTCCTGG	0.478000														23			10		0	0	0.006214	0	0
GBP6	163351	broad.mit.edu	37	1	89849796	89849796	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr1:89849796G>A	uc001dnf.2	+	9	1887	c.1613G>A	c.(1612-1614)aGa>aAa	p.R538K	GBP6_uc010ost.1_Missense_Mutation_p.R408K	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	538							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CAGATGGAGAGAGAACACCTA	0.502000														1			11		0	0	0.008291	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559978	140559978	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr5:140559978C>T	uc011dai.2	+	0	2608	c.2363C>T	c.(2362-2364)tCt>tTt	p.S788F	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	788					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAACAAAACTCTAACTTTAGG	0.368000														37			14		0	0	0.020292	0	0
C15orf55	256646	broad.mit.edu	37	15	34649344	34649344	+	Silent	SNP	C	T	T	rs7163178		TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr15:34649344C>T	uc010ucc.2	+	7	3517	c.3135C>T	c.(3133-3135)ctC>ctT	p.L1045L	C15orf55_uc010ucd.2_Silent_p.L1035L|C15orf55_uc001zif.3_Silent_p.L1017L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	1017						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		ATGAGGAACTCTCCAACTTTG	0.502000			T	"""BRD3, BRD4"""	lethal midline carcinoma									26			10		0	0	0.008291	0	0
HTT	3064	broad.mit.edu	37	4	3210517	3210518	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr4:3210517_3210518CC>TT	uc021xkv.1	+	45	6315_6316	c.6170_6171CC>TT	c.(6169-6171)tcc>tTT	p.S2057F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2057					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGCTCTATTCCCTGCTGGACA	0.431000														11			9		0	0	0.004672	0	0
PARD3	56288	broad.mit.edu	37	10	34663808	34663808	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr10:34663808C>T	uc010qej.2	-	10	1992	c.1662G>A	c.(1660-1662)agG>agA	p.R554R	PARD3_uc010qep.2_Silent_p.R510R|PARD3_uc010qeq.2_Silent_p.R510R|PARD3_uc010qek.2_Silent_p.R554R|PARD3_uc010qel.2_Silent_p.R554R|PARD3_uc010qem.2_Silent_p.R554R|PARD3_uc010qen.2_Silent_p.R554R|PARD3_uc010qeo.2_Silent_p.R554R|PARD3_uc001ixo.2_Silent_p.R284R|PARD3_uc001ixr.2_Silent_p.R554R|PARD3_uc001ixq.2_Silent_p.R554R|PARD3_uc001ixp.2_Silent_p.R554R|PARD3_uc001ixt.1_Silent_p.R375R|PARD3_uc001ixu.2_Silent_p.R510R|PARD3_uc001ixs.1_Silent_p.R207R	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	554					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				ACACCAGTTCCCTTGGGTGGA	0.463000														78			37		0	0	0.023175	0	0
LLGL2	3993	broad.mit.edu	37	17	73569700	73569700	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr17:73569700C>G	uc002joh.3	+	20	3018	c.2864C>G	c.(2863-2865)cCg>cGg	p.P955R	LLGL2_uc002joi.3_Missense_Mutation_p.P955R|LLGL2_uc010dgg.2_Missense_Mutation_p.P955R|LLGL2_uc002joj.3_Missense_Mutation_p.P944R|LLGL2_uc010wsd.2_Missense_Mutation_p.P582R	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	955					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCC	0.667000														18			5		0	0	0.038147	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962141	73962141	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chrX:73962141C>T	uc004eby.3	-	2	2868	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	751					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GATTGGTTTTCCAAGAGAGGG	0.378000														5			45		0	0	0.036044	0	0
MKI67	4288	broad.mit.edu	37	10	129907335	129907335	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr10:129907335C>T	uc001lke.3	-	12	2964	c.2769G>A	c.(2767-2769)aaG>aaA	p.K923K	MKI67_uc001lkf.3_Silent_p.K563K|MKI67_uc009yav.1_Silent_p.K498K|MKI67_uc009yaw.1_Silent_p.K73K	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	923					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCTATTTCCTTCATCTCTC	0.348000														31			24		0	0	0.018920	0	0
ANK3	288	broad.mit.edu	37	10	61831219	61831219	+	Silent	SNP	T	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr10:61831219T>C	uc001jky.3	-	36	9758	c.9420A>G	c.(9418-9420)caA>caG	p.Q3140Q	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.	3140					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						GAGAAGGAGGTTGCTTTTGCT	0.428000														39			25		0	0	0.018920	0	0
OR4K5	79317	broad.mit.edu	37	14	20389642	20389642	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr14:20389642G>A	uc010tkw.2	+	0	877	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R292T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAGGAATAGGGATATGAAGGC	0.398000														103			42		0	0	0.036044	0	0
RPAP1	26015	broad.mit.edu	37	15	41819403	41819403	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr15:41819403T>C	uc001zod.3	-	12	1832	c.1708A>G	c.(1708-1710)Atc>Gtc	p.I570V		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	570						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCCAGGCGGATGAGCACAGCC	0.617000														13			17		0	0	0.043863	0	0
ACAN	176	broad.mit.edu	37	15	89401973	89401973	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr15:89401973G>A	uc010upo.1	+	11	6531	c.6157G>A	c.(6157-6159)Gaa>Aaa	p.E2053K	ACAN_uc010upp.1_Missense_Mutation_p.E2053K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2053					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TATTTCTCAGGAACTAGGCCA	0.517000														14			16		0	0	0.028581	0	0
POTEC	388468	broad.mit.edu	37	18	14543092	14543092	+	Silent	SNP	G	A	A	rs45502401		TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr18:14543092G>A	uc010dln.3	-	0	508	c.54C>T	c.(52-54)ttC>ttT	p.F18F	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	18										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCCTGAGATCGAATGGCTTCT	0.572000														31			5		0	0	0.038147	0	0
CYP46A1	10858	broad.mit.edu	37	14	100157478	100157478	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr14:100157478C>T	uc001ygo.3	+	1	180	c.180C>T	c.(178-180)ctC>ctT	p.L60L	CYP46A1_uc001ygn.1_Missense_Mutation_p.S8F	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	60					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GCCGTGTGCTCCAAGATGTGT	0.502000														51			28		0	0	0.045705	0	0
PTCD3	55037	broad.mit.edu	37	2	86344203	86344203	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr2:86344203C>T	uc002sqw.2	+	5	401	c.335C>T	c.(334-336)tCc>tTc	p.S112F	PTCD3_uc010ytc.1_Non-coding_Transcript	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	112						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GCAAAGAAATCCGGGGAGAAT	0.328000														12			4		0	0	0.009096	0	0
GRIK1	2897	broad.mit.edu	37	21	30927444	30927444	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr21:30927444G>T	uc002yno.1	-	15	3000	c.2536C>A	c.(2536-2538)Ctg>Atg	p.L846M	GRIK1_uc002ynn.3_Missense_Mutation_p.L831M|GRIK1_uc011acs.2_Missense_Mutation_p.L846M|GRIK1_uc011act.2_Missense_Mutation_p.L707M	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	846					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GAAAGGACCAGTCCGGCAGCC	0.463000														71			10		7.48243e-07	7.83873e-07	0.006214	1	0
DMXL1	1657	broad.mit.edu	37	5	118503322	118503322	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr5:118503322A>G	uc010jcl.1	+	22	5342	c.5161A>G	c.(5161-5163)Att>Gtt	p.I1721V	DMXL1_uc003ksd.2_Missense_Mutation_p.I1721V|DMXL1_uc021ycw.1_Missense_Mutation_p.I1548V	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1721										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATTGAATGACATTCAGTTGGC	0.294000														8			8		0	0	0.038147	0	0
SHF	90525	broad.mit.edu	37	15	45464403	45464403	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr15:45464403C>T	uc001zuy.3	-	5	1402	c.907G>A	c.(907-909)Gag>Aag	p.E303K	SHF_uc010uen.2_Missense_Mutation_p.E119K|SHF_uc010ueo.2_Missense_Mutation_p.E119K|SHF_uc010ues.1_Missense_Mutation_p.E166K|SHF_uc010uet.1_Missense_Mutation_p.E119K|SHF_uc010ueu.2_Missense_Mutation_p.E166K	NM_138356	NP_612365	B3KTY1	B3KTY1_HUMAN	Homo sapiens Src homology 2 domain containing F (SHF), mRNA.	303										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		CTGCTGGGCTCCATGCTTAGG	0.642000														40			23		0	0	0.021523	0	0
NEK1	4750	broad.mit.edu	37	4	170327855	170327855	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr4:170327855C>T	uc003isd.2	-	31	3844	c.3266G>A	c.(3265-3267)aGa>aAa	p.R1089K	NEK1_uc003ise.2_Missense_Mutation_p.R1045K|NEK1_uc003isb.2_Missense_Mutation_p.R1061K|NEK1_uc003isc.2_Missense_Mutation_p.R1017K|NEK1_uc003isf.2_Missense_Mutation_p.R992K	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	1061					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CATAAGGGTTCTGAACAGCTT	0.318000														29			23		0	0	0.034045	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619399	144619399	+	Silent	SNP	G	A	A	rs4067645	by1000genomes	TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr1:144619399G>A	uc009wig.1	+	5	734	c.540G>A	c.(538-540)gtG>gtA	p.V180V	NBPF10_uc010oxo.1_Silent_p.V182V|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Silent_p.V113V|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	182								p.A179D(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATGAGAAAGTGCAGAAATCAT	0.413000														237			6		0	0	0.029380	0	0
ANKRD6	22881	broad.mit.edu	37	6	90333234	90333234	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr6:90333234G>A	uc003pni.4	+	10	1344	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	ANKRD6_uc003pne.4_Missense_Mutation_p.D335N|ANKRD6_uc003pnf.4_Missense_Mutation_p.D300N|ANKRD6_uc011dzy.2_Missense_Mutation_p.D335N|ANKRD6_uc010kcd.3_Missense_Mutation_p.D276N|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_5'UTR	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	335							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CAGAGCAAAGGATGACAGGAG	0.597000														6			7		0	0	0.038147	0	0
FAM86HP	729375	broad.mit.edu	37	3	129821661	129821661	+	RNA	SNP	T	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr3:129821661T>C	uc003ene.2	-	1		c.255A>G			FAM86HP_uc011ble.1_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA.																		GTAAAGGCCATGTAGACCTCA	0.667000														46			8		0	0	0.013537	0	0
PSG4	5672	broad.mit.edu	37	19	43414732	43414732	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr19:43414732G>A	uc002ovj.1	-	3	805	c.706_splice	c.e3+1	p.P236_splice	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Splice_Site_p.P236_splice	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	237					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)				AGATACTCACGGAGGAGATTC	0.527000														84			103		0	0	0.048971	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118065	118065	+	RNA	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chrGL000205.1:118065G>A	uc002kgk.4	+	0		c.1443G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTTTTGCTCGGGGTCTGTTG	0.572000														38			7		0	0	0.047766	0	0
ZNF709	163051	broad.mit.edu	37	19	12638475	12638475	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr19:12638475G>A	uc002mty.3	-	3	657	c.447C>T	c.(445-447)gcC>gcT	p.A149A	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AAGAACTGAAGGCTTTCCCAC	0.433000														22			18		0	0	0.038395	0	0
ZNF823	55552	broad.mit.edu	37	19	11832550	11832550	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr19:11832550C>T	uc002msm.2	-	3	1925	c.1799G>A	c.(1798-1800)aGa>aAa	p.R600K	ZNF823_uc010xmd.1_Missense_Mutation_p.R418K|ZNF823_uc010dyi.1_Missense_Mutation_p.R556K	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CCTTTTATGTCTATGCAAGGA	0.393000										HNSCC(68;0.2)				30			7		0	0	0.047766	0	0
FBN2	2201	broad.mit.edu	37	5	127700391	127700391	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr5:127700391T>C	uc003kuu.3	-	17	2769	c.2330A>G	c.(2329-2331)gAt>gGt	p.D777G	FBN2_uc003kuv.2_Missense_Mutation_p.D744G	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	777	EGF-like 11; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCACATATATCAGGATCCAA	0.358000														22			9		0	0	0.047766	0	0
CHRNG	1146	broad.mit.edu	37	2	233409127	233409127	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr2:233409127G>A	uc002vsx.1	+	9	1107	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	CHRNG_uc010fye.1_Silent_p.L310L	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	362					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		TTCGCCCGCTGGCCCCGGCAG	0.652000														81			32		0	0	0.054565	0	0
FAM86A	196483	broad.mit.edu	37	16	5135684	5135684	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr16:5135684C>T	uc002cyo.2	-	7	991	c.942G>A	c.(940-942)ctG>ctA	p.L314L	ALG1_uc002cyj.3_3'UTR|ALG1_uc002cym.3_3'UTR|ALG1_uc010bue.3_3'UTR|FAM86A_uc002cyp.2_Silent_p.L280L	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	314										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CGTAGGGAAACAGTTTCTGCT	0.527000														94			4		0	0	0.009096	0	0
DSG3	1830	broad.mit.edu	37	18	29054145	29054145	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr18:29054145G>A	uc002kws.3	+	14	2272	c.2163G>A	c.(2161-2163)atG>atA	p.M721I	DSG3_uc002kwt.3_Missense_Mutation_p.M3I	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	721					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAATGGAAATGACCACTAAGC	0.493000														4			20		0	0	0.055883	0	0
PHLDB2	90102	broad.mit.edu	37	3	111659439	111659439	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr3:111659439G>C	uc010hqa.3	+	7	2755	c.2344G>C	c.(2344-2346)Gag>Cag	p.E782Q	PHLDB2_uc003dyc.3_Missense_Mutation_p.E766Q|PHLDB2_uc003dyd.3_Missense_Mutation_p.E739Q|PHLDB2_uc003dyg.3_Missense_Mutation_p.E782Q|PHLDB2_uc003dyh.3_Missense_Mutation_p.E739Q|PHLDB2_uc003dyi.3_Missense_Mutation_p.E368Q	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	782						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						GGCTCAGAGAGAGCAAGATCA	0.353000														7			6		0	0	0.029380	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349514	103349514	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chrX:103349514G>A	uc022cbz.1	-	0	427	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	SLC25A53_uc004elu.3_Nonsense_Mutation_p.Q143*	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	143					transport	integral to membrane|mitochondrial inner membrane											CGACCATCCTGGAGCACATTT	0.597000														10			105		0	0	0.048971	0	0
TBX15	6913	broad.mit.edu	37	1	119469210	119469210	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr1:119469210C>T	uc001ehl.1	-	2	441	c.126G>A	c.(124-126)gtG>gtA	p.V42V		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	148						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAGTGATTTTCACTCTCATGG	0.423000														22			7		0	0	0.006214	0	0
LOC390660	390660	broad.mit.edu	37	15	82620400	82620400	+	RNA	SNP	T	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr15:82620400T>C	uc021ssl.1	+	18		c.3880T>C			LOC390660_uc010bls.1_Non-coding_Transcript					Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA.																		GACCCAAGGGTCAGCCTGAGT	0.672000														15			3		0	0	0.014758	0	0
LPPR2	64748	broad.mit.edu	37	19	11470537	11470537	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr19:11470537C>T	uc002mrf.2	+	4	597	c.221C>T	c.(220-222)cCa>cTa	p.P74L	LPPR2_uc002mre.2_Missense_Mutation_p.P99L|LPPR2_uc010dxy.2_5'UTR|Prion_pknot_uc021uph.1_5'Flank	NM_001170635	NP_001164106	Q96GM1	LPPR2_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA.	99						integral to membrane	phosphatidate phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	6						TTCCCTGCACCACCTTCAGCC	0.647000														21			11		0	0	0.010729	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101795412	101795412	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr5:101795412G>A	uc003knn.3	-	4	1141	c.969C>T	c.(967-969)gtC>gtT	p.V323V	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Silent_p.V323V|SLCO6A1_uc003knq.3_Silent_p.V261V	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	323						integral to membrane|plasma membrane	transporter activity	p.A322T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACCATGCAACGACAGCGGCAA	0.338000														57			21		0	0	0.012319	0	0
RAD17	5884	broad.mit.edu	37	5	68667346	68667346	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr5:68667346T>C	uc003jwo.3	+	0	66	c.4T>C	c.(4-6)Tca>Cca	p.S2P	RAD17_uc003jwg.3_Intron|RAD17_uc003jwi.3_5'UTR|RAD17_uc003jwh.3_Intron|RAD17_uc003jwj.3_Intron|RAD17_uc003jwk.3_Intron|RAD17_uc003jwl.3_Intron|RAD17_uc003jwm.3_Intron|RAD17_uc003jwn.3_Intron|TAF9_uc003jwa.3_5'Flank|TAF9_uc003jwb.3_5'Flank|TAF9_uc003jwe.1_5'Flank|TAF9_uc003jwf.1_5'Flank	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	2					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GTTTATAATGTCAAAAACTTT	0.353000								Other conserved DNA damage response genes						18			20		0	0	0.016522	0	0
CPD	1362	broad.mit.edu	37	17	28789002	28789002	+	Silent	SNP	T	G	G			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr17:28789002T>G	uc002hfb.2	+	18	3795	c.3738T>G	c.(3736-3738)ggT>ggG	p.G1246G	CPD_uc010wbo.2_Silent_p.G999G|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	1246	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	p.G1246C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AAGAGGGAGGTTATTTCCATG	0.393000														10			20		0	0	0.043863	0	0
KRT3	3850	broad.mit.edu	37	12	53189266	53189266	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:53189266G>A	uc001say.3	-	0	627	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	187	Head.			I -> T (in Ref. 1; CAA28991).	epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCTGGGGGTCGATCTCCACAT	0.542000														26			22		0	0	0.014323	0	0
TAP2	6891	broad.mit.edu	37	6	32781551	32781551	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr6:32781551C>T	uc011dqf.1	-	14	2646	c.2524G>A	c.(2524-2526)Ggg>Agg	p.G842R	TAP2_uc003oca.3_Missense_Mutation_p.G235R	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										AAGATTAGCCCAAGTAGGAAG	0.478000														3			3		0	0	0.004672	0	0
SCAF4	57466	broad.mit.edu	37	21	33064136	33064136	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr21:33064136G>A	uc002ypd.2	-	13	2148	c.1722C>T	c.(1720-1722)tcC>tcT	p.S574S	SCAF4_uc002ype.2_Silent_p.S574S|SCAF4_uc010glu.2_Silent_p.S559S|SCAF4_uc002ypf.1_Silent_p.S248S	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	574	RRM.					nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTACCTTTATGGATTTCTGGT	0.373000														38			14		0	0	0.024245	0	0
DSCAM	1826	broad.mit.edu	37	21	42080524	42080524	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr21:42080524G>A	uc002yyq.1	-	1	669	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	73	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.R73L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACGTGGCGGATCCCGGGG	0.552000														60			15		0	0	0.020292	0	0
RLTPR	146206	broad.mit.edu	37	16	67685655	67685655	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr16:67685655G>A	uc002etn.3	+	24	2615	c.2495G>A	c.(2494-2496)tGg>tAg	p.W832*	RLTPR_uc010cel.1_Nonsense_Mutation_p.W825*|RLTPR_uc010vjr.2_Nonsense_Mutation_p.W796*|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	832										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGATCCAGCTGGAGGGAGCAG	0.612000														2			7		0	0	0.029380	0	0
TET1	80312	broad.mit.edu	37	10	70406332	70406332	+	Silent	SNP	T	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr10:70406332T>C	uc001jok.4	+	3	4351	c.3846T>C	c.(3844-3846)taT>taC	p.Y1282Y		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1282					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATAAAGCTTATAATTCTCAGG	0.458000														39			6		0	0	0.029380	0	0
GPR123	84435	broad.mit.edu	37	10	134909255	134909255	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr10:134909255G>A	uc001llw.3	+	10	2134	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	GPR123_uc001llx.4_Intron			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GGAGCTCTCGGGCCCGCTGGC	0.657000														11			4		0	0	0.009096	0	0
DNAH1	25981	broad.mit.edu	37	3	52422547	52422547	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr3:52422547C>T	uc011bef.2	+	57	9546	c.9285C>T	c.(9283-9285)taC>taT	p.Y3095Y	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3095	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGCTAAGTACCGGGAATGCA	0.607000														3			6		0	0	0.021553	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	A	A	rs112083427		TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr6:170871052G>A	uc003qxu.3	+	2	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_uc011ehf.2_Silent_p.Q56Q|TBP_uc003qxt.3_Silent_p.Q76Q|TBP_uc011ehg.1_Silent_p.Q76Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(8)|p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000														28			5		0	0	0.014758	0	0
BC073927	0	broad.mit.edu	37	11	71513938	71513938	+	RNA	SNP	T	A	A	rs139766133	by1000genomes	TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr11:71513938T>A	uc001oqx.1	-	2		c.662A>T								Homo sapiens cDNA clone IMAGE:5297769.																		GGCAAACAGCTCCTGAACATG	0.582000														19			3		0	0	0.004672	0	0
OR10R2	343406	broad.mit.edu	37	1	158450467	158450467	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr1:158450467T>C	uc010pik.2	+	0	800	c.800T>C	c.(799-801)gTt>gCt	p.V267A	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CACCTCAGTGTTGTTATTGTT	0.478000														20			25		0	0	0.018920	0	0
UBE3C	9690	broad.mit.edu	37	7	157060408	157060408	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr7:157060408C>T	uc010lqs.3	+	22	3523	c.3211C>T	c.(3211-3213)Ctc>Ttc	p.L1071F	UBE3C_uc003wni.4_Missense_Mutation_p.L434F	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	1071	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AAGTAAACTTCTCTATGCGAT	0.567000														65			79		0	0	0.048971	0	0
USP40	55230	broad.mit.edu	37	2	234434202	234434202	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr2:234434202C>T	uc010zmr.2	-	12	1765	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	USP40_uc010zmt.1_Missense_Mutation_p.E233K	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	577					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TCCCAAAATTCTAACAGCTGA	0.368000														18			28		0	0	0.034045	0	0
GPR112	139378	broad.mit.edu	37	X	135494509	135494509	+	Silent	SNP	A	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chrX:135494509A>C	uc004ezu.1	+	23	9312	c.9021A>C	c.(9019-9021)cgA>cgC	p.R3007R	GPR112_uc010nsb.1_Silent_p.R2802R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	3007					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGTGGTTGCGATTGGATAACT	0.403000														2			36		0	0	0.017118	0	0
STX17	55014	broad.mit.edu	37	9	102677597	102677597	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr9:102677597C>T	uc004bal.4	+	1	212	c.76C>T	c.(76-78)Cca>Tca	p.P26S	STX17_uc004bak.3_Missense_Mutation_p.P26S|STX17_uc010msx.3_Non-coding_Transcript|STX17_uc011lvd.2_Non-coding_Transcript	NM_017919	NP_060389	P56962	STX17_HUMAN	Homo sapiens syntaxin 17 (STX17), mRNA.	26					intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GATAGTAATCCCAACAGACCT	0.343000														5			20		0	0	0.043863	0	0
SDSL	113675	broad.mit.edu	37	12	113873225	113873225	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:113873225C>T	uc001tvi.3	+	6	742	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	SDSL_uc009zwh.3_Silent_p.L179L	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	179					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	TGGGGGTCTCCTGGCCGGGGT	0.662000														9			12		0	0	0.010729	0	0
PRKG1	5592	broad.mit.edu	37	10	54053573	54053573	+	Silent	SNP	C	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr10:54053573C>A	uc001jjm.3	+	17	2157	c.1929C>A	c.(1927-1929)ccC>ccA	p.P643P	PRKG1_uc001jjo.3_Silent_p.P658P|PRKG1_uc009xow.2_Silent_p.P361P|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	643	AGC-kinase C-terminal.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTGCATCACCCACAGACACAA	0.368000														25			11		9.31168e-06	9.70375e-06	0.016723	1	0
DNAH7	56171	broad.mit.edu	37	2	196729224	196729224	+	Silent	SNP	C	T	T	rs150035002		TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr2:196729224C>T	uc002utj.4	-	40	7256	c.7155G>A	c.(7153-7155)agG>agA	p.R2385R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2385	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2385R(2)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCGCACATTTCCTTAAGATCA	0.388000														27			30		0	0	0.037714	0	0
TRANK1	9881	broad.mit.edu	37	3	36874965	36874965	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr3:36874965C>T	uc003cgj.3	-	20	6225	c.5977G>A	c.(5977-5979)Ggg>Agg	p.G1993R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1993					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						AGGATTACCCCTTGCAGGAAG	0.507000														16			3		0	0	0.004672	0	0
MYO3B	140469	broad.mit.edu	37	2	171055894	171055894	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr2:171055894C>T	uc002ufy.3	+	1	322	c.179C>T	c.(178-180)cCa>cTa	p.P60L	MYO3B_uc002ufv.3_Missense_Mutation_p.P47L|MYO3B_uc010fqb.1_Missense_Mutation_p.P60L|MYO3B_uc002ufz.3_Missense_Mutation_p.P60L|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.P47L	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	60	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATTCTGGATCCAGTCAGTGTA	0.368000														4			7		0	0	0.029380	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50660946	50660946	+	Silent	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr22:50660946G>A	uc003bkb.1	-	13	2858	c.2346C>T	c.(2344-2346)atC>atT	p.I782I	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Silent_p.I774I|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.	782					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)		GGTGCCTCTGGATTCTCCACA	0.562000														23			13		0	0	0.013537	0	0
SVOP	55530	broad.mit.edu	37	12	109306352	109306352	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:109306352C>T	uc010sxh.1	-	15	1616	c.1444G>A	c.(1444-1446)Ggt>Agt	p.G482S		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA.	536						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						ACACCTGCACCGTGCATTCCT	0.627000														55			83		0	0	0.048971	0	0
PCLO	27445	broad.mit.edu	37	7	82784468	82784468	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr7:82784468C>T	uc003uhx.2	-	1	1778	c.1489G>A	c.(1489-1491)Gca>Aca	p.A497T	PCLO_uc003uhv.2_Missense_Mutation_p.A497T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	443	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S496P(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGGCTTTGCTGAGCCAGGC	0.612000														179			5		0	0	0.021553	0	0
OR9K2	441639	broad.mit.edu	37	12	55524316	55524316	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:55524316C>T	uc010spe.2	+	0	764	c.764C>T	c.(763-765)tCt>tTt	p.S255F		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						AAGATACATTCTACTGAGGGA	0.383000														47			8		0	0	0.038147	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	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					38			33		0	0	0.054565	0	0
TMEM230	29058	broad.mit.edu	37	20	5086941	5086941	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr20:5086941G>A	uc002wlk.3	-	3	363	c.304C>T	c.(304-306)Cct>Tct	p.P102S	TMEM230_uc010gbi.3_Missense_Mutation_p.P39S|TMEM230_uc002wll.3_Missense_Mutation_p.P39S|TMEM230_uc002wlm.3_Missense_Mutation_p.P39S|TMEM230_uc002wln.3_Missense_Mutation_p.P39S	NM_001009923	NP_054864	Q96A57	CT030_HUMAN	Homo sapiens chromosome 20 open reading frame 30 (C20orf30), transcript variant 1, mRNA.	39						integral to membrane											GGGATCTTAGGAGGGGTTTTC	0.388000														15			18		0	0	0.049695	0	0
NLN	57486	broad.mit.edu	37	5	65058797	65058797	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr5:65058797C>T	uc003juf.3	+	2	490	c.312C>T	c.(310-312)acC>acT	p.T104T	NLN_uc003jue.3_Silent_p.T104T	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA.	104					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGGAAAGGACCATGCTAGACT	0.413000														35			16		0	0	0.028581	0	0
LIG1	3978	broad.mit.edu	37	19	48643347	48643347	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr19:48643347G>A	uc002pia.1	-	11	1088	c.968C>T	c.(967-969)tCg>tTg	p.S323L	LIG1_uc010xze.1_Missense_Mutation_p.S16L|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.S255L|LIG1_uc010xzg.1_Missense_Mutation_p.S292L|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	323					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GTCTGGAGGCGACAGGGCCAC	0.632000								Nucleotide excision repair (NER)						35			10		0	0	0.008291	0	0
ST18	9705	broad.mit.edu	37	8	53084721	53084721	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr8:53084721G>A	uc003xqz.2	-	4	856	c.700C>T	c.(700-702)Cct>Tct	p.P234S	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.P199S|ST18_uc011lds.1_Missense_Mutation_p.P139S|ST18_uc003xra.2_Missense_Mutation_p.P234S|ST18_uc003xrb.2_Missense_Mutation_p.P234S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	234						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTATTTCAGGAACTTCCAAT	0.418000														35			22		0	0	0.012319	0	0
MSH5	4439	broad.mit.edu	37	6	31715210	31715210	+	Splice_Site	SNP	G	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr6:31715210G>T	uc003nwu.2	+	10	940	c.812_splice	c.e10+1	p.R271_splice	MSH5_uc003nwx.2_Splice_Site_p.R288_splice|MSH5_uc003nwv.2_Splice_Site_p.R271_splice|MSH5_uc003nww.2_Splice_Site_p.R271_splice|MSH5_uc011dof.1_Splice_Site	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	271					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.?(1)		breast(1)|ovary(2)|skin(2)	5						AGCTGCTCAGGTGAGTGGGTC	0.473000								Direct reversal of damage;Mismatch excision repair (MMR)						241			133		2.92346e-95	3.16309e-95	0.048971	1	0
MIS18BP1	55320	broad.mit.edu	37	14	45687484	45687484	+	Splice_Site	SNP	C	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr14:45687484C>A	uc001wwf.3	-	12	3301	c.2842_splice	c.e12+1	p.G948_splice		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	948					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ACGAAGGTTACCATTTTGGCC	0.353000														65			38		1.32136e-16	1.4066e-16	0.033182	1	0
KIAA2018	205717	broad.mit.edu	37	3	113373885	113373885	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr3:113373885T>C	uc003eam.3	-	6	7055	c.6644A>G	c.(6643-6645)aAt>aGt	p.N2215S	KIAA2018_uc003eal.3_Missense_Mutation_p.N2159S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	2215					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGCAGAGGAATTTGCTATTGT	0.408000														30			7		0	0	0.038147	0	0
SHANK2	22941	broad.mit.edu	37	11	70319502	70319502	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr11:70319502C>T	uc001oqc.3	-	21	4936	c.4824G>A	c.(4822-4824)acG>acA	p.T1608T	SHANK2_uc010rqn.2_Silent_p.T1084T|SHANK2_uc001opz.3_Silent_p.T1079T|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Silent_p.T10T|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1295					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGTGACCGTCGTGCTCCGTG	0.602000														18			17		0	0	0.038395	0	0
EFCAB11	90141	broad.mit.edu	37	14	90263603	90263603	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr14:90263603C>T	uc001xxt.3	-	5	561	c.476G>A	c.(475-477)gGa>gAa	p.G159E	EFCAB11_uc001xxs.3_Missense_Mutation_p.G135E	NM_145231	NP_660274	Q9BUY7	EFC11_HUMAN	Homo sapiens EF-hand calcium binding domain 11 (EFCAB11), mRNA.	159	EF-hand 3.						calcium ion binding			large_intestine(1)|lung(1)	2						TTCCTTCTGTCCATAGTTCAG	0.388000														38			8		0	0	0.038147	0	0
DDB1	1642	broad.mit.edu	37	11	61090509	61090509	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr11:61090509G>A	uc001nrc.4	-	7	1205	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.R327C|DDB1_uc010rlg.1_Non-coding_Transcript|DDB1_uc001nrd.2_Missense_Mutation_p.R327C|DDB1_uc009ynl.1_Missense_Mutation_p.R214C	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	327	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCACCCAGGCGAGACCCGACA	0.438000								Nucleotide excision repair (NER)						10			16		0	0	0.033300	0	0
SIM1	6492	broad.mit.edu	37	6	100897319	100897319	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr6:100897319C>T	uc003pqj.4	-	4	930	c.463G>A	c.(463-465)Gag>Aag	p.E155K	SIM1_uc021zdg.1_Missense_Mutation_p.E155K|SIM1_uc010kcu.3_Missense_Mutation_p.E155K	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	155					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CGCTCGATCTCATACTCTGGG	0.592000														16			15		0	0	0.028581	0	0
INSL4	3641	broad.mit.edu	37	9	5231701	5231701	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr9:5231701G>A	uc003ziy.3	+	0	283	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K		NM_002195	NP_002186	Q14641	INSL4_HUMAN	Homo sapiens insulin-like 4 (placenta) (INSL4), mRNA.	60					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GTGGCTGCTGGAATCTGGACG	0.522000														3			9		0	0	0.008291	0	0
RAB2B	84932	broad.mit.edu	37	14	21931881	21931882	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr14:21931881_21931882GG>AA	uc010tlt.2	-	5	508_509	c.407_408CC>TT	c.(406-408)gcc>gTT	p.A136V	RAB2B_uc010tls.2_Missense_Mutation_p.A90V|RAB2B_uc010ain.3_Missense_Mutation_p.A27V|RAB2B_uc001wax.3_Missense_Mutation_p.A71V	NM_032846	NP_001156852	Q8WUD1	RAB2B_HUMAN	Homo sapiens RAB2B, member RAS oncogene family (RAB2B), transcript variant 1, mRNA.	136					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|plasma membrane	GTP binding			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		CCCTAGCAAAGGCCTCTCCTTC	0.411000														51			22		0	0	0.004672	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386973	8386973	+	RNA	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:8386973C>T	uc010sgk.2	-	3		c.483G>A								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		AGCCAGCCTCCGCAGGACCCC	0.592000														42			4		0	0	0.009096	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95472169	95472169	+	RNA	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr2:95472169C>T	uc010fhp.3	-	15		c.2548G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TCTGCATTTCCAAATACATTT	0.264000														27			10		0	0	0.006214	0	0
LAMA2	3908	broad.mit.edu	37	6	129634041	129634041	+	Silent	SNP	C	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr6:129634041C>T	uc021zfb.1	+	22	3315	c.3210C>T	c.(3208-3210)ttC>ttT	p.F1070F	LAMA2_uc003qbn.3_Silent_p.F1070F|LAMA2_uc003qbo.3_Silent_p.F1070F	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1070	Laminin EGF-like 12.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTTGGATTTCCAATGCAATG	0.403000														10			18		0	0	0.043863	0	0
CD163L1	283316	broad.mit.edu	37	12	7559289	7559289	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr12:7559289A>C	uc010sge.2	-	4	982	c.956T>G	c.(955-957)cTt>cGt	p.L319R	CD163L1_uc001qsy.3_Missense_Mutation_p.L309R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	309	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGCGAAGTGAAGTGCGGTTCC	0.507000														28			44		0	0	0.048971	0	0
ANKH	56172	broad.mit.edu	37	5	14758613	14758614	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr5:14758613_14758614GG>AA	uc003jfm.4	-	2	738_739	c.407_408CC>TT	c.(406-408)gcc>gTT	p.A136V		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	136					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AAGGAAAGGCGGCGAGGTACAG	0.416000														20			9		0	0	0.004672	0	0
MST1P2	11209	broad.mit.edu	37	1	16975913	16975918	+	RNA	DEL	CCTGTT	-	-			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr1:16975913_16975918delCCTGTT	uc010och.2	+	10		c.1935_1940delCCTGTT			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTTGGGCACCCTGTTCCAGAACCCA	0.578													---	6	---	---	3	---					
TRIM15	89870	broad.mit.edu	37	6	30139833	30139833	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr6:30139833delG	uc010jrx.3	+	6	1584	c.1105delG	c.(1105-1107)gggfs	p.G369fs		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	369	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGGGGTGGCCGGGGAGGGGGT	0.731													---	5	---	---	3	---					
POM121	9883	broad.mit.edu	37	7	72413723	72413724	+	In_Frame_Ins	INS	-	CTC	CTC	rs67569765	byFrequency	TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr7:72413723_72413724insCTC	uc003twk.2	+	10	3191_3192	c.3191_3192insCTC	c.(3190-3192)ttc>ttCTCc	p.1064_1065insS	POM121_uc003twj.3_In_Frame_Ins_p.799_800insS|POM121_uc010lam.1_In_Frame_Ins_p.799_800insS	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1064	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACTGCTGTCTTCTTCGGTGCAG	0.663													---	86	---	---	7	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	-	-	rs142343457	byFrequency	TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr8:28209226_28209228delGCA	uc003xgq.3	-	6	1105_1107	c.1017_1019delTGC	c.(1015-1020)gctgcc>gcc	p.339_340AA>A	ZNF395_uc003xgt.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgr.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgs.3_In_Frame_Del_p.339_340AA>A	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													---	126	---	---	7	---					
FAM75C2	645961	broad.mit.edu	37	9	90744839	90744840	+	Frame_Shift_Ins	INS	-	T	T			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr9:90744839_90744840insT	uc011lti.2	-	3	3141_3142	c.3112_3113insA	c.(3112-3114)acafs	p.T1038fs	DQ587746_uc004apx.1_5'Flank	NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	1038																	GTTTTTTACTGTTTTTTGGCTC	0.431													---	19	---	---	23	---					
TM9SF3	56889	broad.mit.edu	37	10	98287894	98287895	+	Frame_Shift_Ins	INS	-	AT	AT			TCGA-DA-A1I2-06A-21D-A19A-08	TCGA-DA-A1I2-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d432e99a-67fb-4609-b90f-99438eee7cae	33941005-40a5-45da-a497-bd3fcfbbec30	g.chr10:98287894_98287895insAT	uc001kmm.4	-	11	1651_1652	c.1434_1435insAT	c.(1432-1437)tattatfs	p.Y478fs		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	478						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CCATAGACATAATAGATCTTAT	0.376													---	30	---	---	14	---					
