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
FAT2	2196	broad.mit.edu	37	5	150885198	150885198	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:150885198C>T	uc003lue.4	-	22	12991	c.12978G>A	c.(12976-12978)cgG>cgA	p.R4326R	FAT2_uc003lud.4_Silent_p.R933R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4326					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGGGGGCACCCGGGGCTGGC	0.632000														27			9		0	0	0.000673444	0	0
OR52E8	390079	broad.mit.edu	37	11	5878637	5878637	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:5878637G>A	uc010qzr.2	-	0	296	c.296C>T	c.(295-297)tCt>tTt	p.S99F	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTCCAAAAGATATTTCTTT	0.463000														158			15		0	0	0.000566183	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087105	39087105	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr21:39087105C>T	uc011aej.1	-	2	408	c.355G>A	c.(355-357)Gga>Aga	p.G119R	KCNJ6_uc002ywo.2_Missense_Mutation_p.G119R	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	119					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCCATGTCTCCCCGTATGTAT	0.458000														65			19		0	0	0.00188189	0	0
LGI3	203190	broad.mit.edu	37	8	22009377	22009377	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:22009377G>A	uc003xav.3	-	5	920	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	LGI3_uc010ltu.3_Silent_p.L187L	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	211	LRRCT.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGCAGCGGCAGGTCCTGCACC	0.627000														64			9		0	0	0.000442599	0	0
CD300A	11314	broad.mit.edu	37	17	72473669	72473669	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:72473669G>A	uc002jkv.3	+	4	949	c.628_splice	c.e4+1	p.A210_splice	CD300A_uc002jkw.3_Splice_Site_p.A97_splice|CD300A_uc010dfr.3_Splice_Site_p.A97_splice|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	210					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						ATGGATCAAAGGTGAGTTGGC	0.587000														21			11		0	0	0.000978159	0	0
USP36	57602	broad.mit.edu	37	17	76800017	76800017	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:76800017G>A	uc002jvz.1	-	15	2585	c.2260C>T	c.(2260-2262)Ccc>Tcc	p.P754S	USP36_uc002jwa.1_Missense_Mutation_p.P754S|USP36_uc002jwb.1_Intron|USP36_uc002jwc.1_Missense_Mutation_p.P454S|USP36_uc002jvy.1_5'Flank	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	754					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGGCTGAAGGGGGGTTGCAGG	0.632000														48			30		0	0	0.000953801	0	0
SLC5A8	160728	broad.mit.edu	37	12	101560291	101560291	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:101560291G>A	uc001thz.4	-	11	1897	c.1507C>T	c.(1507-1509)Caa>Taa	p.Q503*		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	503					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTGTATATTTGAAAAACACTA	0.328000														49			9		0	0	0.000673444	0	0
SORL1	6653	broad.mit.edu	37	11	121491909	121491909	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:121491909G>A	uc001pxx.3	+	43	6155	c.6026G>A	c.(6025-6027)gGg>gAg	p.G2009E	SORL1_uc010rzp.1_Missense_Mutation_p.G855E|SORL1_uc010rzq.1_Missense_Mutation_p.G624E	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2009	Fibronectin type-III 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTCCAACTGGGGAACATGAGC	0.483000														44			16		0	0	0.000566183	0	0
CD163	9332	broad.mit.edu	37	12	7640053	7640053	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:7640053T>G	uc001qsz.3	-	7	2080	c.1952A>C	c.(1951-1953)cAc>cCc	p.H651P	CD163_uc001qta.3_Missense_Mutation_p.H651P|CD163_uc009zfw.2_Missense_Mutation_p.H684P	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	651	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCCAGTGCAGTGAAACATATG	0.488000														53			17		0	0	0.000566183	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457571	110457571	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:110457571A>T	uc003yne.3	+	37	5577	c.5473A>T	c.(5473-5475)Aac>Tac	p.N1825Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1825	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			GGCTCTGGGAAACCTGACTGT	0.483000										HNSCC(38;0.096)				68			7		0	0	0.000157383	0	0
DNAH5	1767	broad.mit.edu	37	5	13900349	13900349	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:13900349C>T	uc003jfd.2	-	14	2267	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	742	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTATCTATCTCGTTTCTGGAA	0.388000									Kartagener syndrome					59			12		0	0	0.00136819	0	0
OR13C4	138804	broad.mit.edu	37	9	107288775	107288775	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:107288775G>A	uc011lvn.2	-	0	716	c.716C>T	c.(715-717)tCt>tTt	p.S239F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGAGCATGTAGAAAATGCCTT	0.438000														88			16		0	0	0.00152264	0	0
USP39	10713	broad.mit.edu	37	2	85868235	85868235	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:85868235C>T	uc002sqe.3	+	9	1457	c.1421C>T	c.(1420-1422)cCt>cTt	p.P474L	USP39_uc002sqb.3_Missense_Mutation_p.P205L|USP39_uc010ysu.2_Missense_Mutation_p.P396L|USP39_uc010ysv.2_Missense_Mutation_p.P371L|USP39_uc010fgn.1_Missense_Mutation_p.P474L|USP39_uc002sqg.3_Missense_Mutation_p.P474L|USP39_uc010fgo.3_Missense_Mutation_p.P474L	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	474					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTCAATTTCCCTATTACGTAA	0.368000														44			19		0	0	0.00152264	0	0
IPMK	253430	broad.mit.edu	37	10	59955965	59955965	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:59955965C>T	uc001jkb.3	-	5	1446	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	Homo sapiens inositol polyphosphate multikinase (IPMK), mRNA.	375						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TCAGCAATCTCTTGGCAACCA	0.393000														102			25		0	0	0.000720815	0	0
TRRAP	8295	broad.mit.edu	37	7	98524910	98524910	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:98524910G>A	uc003upp.3	+	22	3305	c.3096G>A	c.(3094-3096)aaG>aaA	p.K1032K	TRRAP_uc011kis.2_Silent_p.K1032K|TRRAP_uc003upr.3_Silent_p.K724K	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1032					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGTCATTAAGGACCTGCGGC	0.602000														49			8		0	0	0.000157383	0	0
OR56A5	390084	broad.mit.edu	37	11	5989583	5989583	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:5989583G>A	uc010qzu.2	-	0	142	c.142C>T	c.(142-144)Ctt>Ttt	p.L48F		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	48						integral to membrane|plasma membrane	olfactory receptor activity										GTGATCAGAAGGGTGGCATTG	0.577000														13			8		0	0	0.000157383	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059329	152059329	+	Missense_Mutation	SNP	C	T	T	rs114173361	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:152059329C>T	uc001ezo.1	-	2	894	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	277							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTTCTAACTTCCTGATCTTCA	0.433000														128			32		0	0	0.00178596	0	0
SRGAP3	9901	broad.mit.edu	37	3	9057317	9057317	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:9057317G>A	uc003brf.1	-	14	2453	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	SRGAP3_uc003brg.1_Missense_Mutation_p.P569S|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	593	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTTTCCTTAGGAAAGAGTGGG	0.388000			T	RAF1	pilocytic astrocytoma									56			17		0	0	0.000566183	0	0
LIFR	3977	broad.mit.edu	37	5	38496621	38496621	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:38496621G>A	uc010ive.1	-	12	2080	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	LIFR_uc003jli.2_Missense_Mutation_p.S583F	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	583	Fibronectin type-III 4.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTCAGAAAGGGACTGTGTTTC	0.383000			T	PLAG1	salivary adenoma									63			27		0	0	0.00106085	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104208524	104208524	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:104208524C>T	uc001yof.1	-	10	1708	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	PPP1R13B_uc010awv.1_Non-coding_Transcript|PPP1R13B_uc001yog.1_Silent_p.S342S	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	475	Pro-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GGGAGCTTGTCGACCCAGGAC	0.622000														37			7		0	0	8.12818e-05	0	0
HHIP	64399	broad.mit.edu	37	4	145628247	145628247	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:145628247C>T	uc003ijs.2	+	5	1672	c.992C>T	c.(991-993)cCa>cTa	p.P331L		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	331						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGAAAAAATCCACACCAAGTT	0.383000														39			6		0	0	0.000274275	0	0
LAIR1	3903	broad.mit.edu	37	19	54868216	54868216	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:54868216G>A	uc002qfk.1	-	5	777	c.467C>T	c.(466-468)tCc>tTc	p.S156F	LAIR1_uc002qfl.1_Missense_Mutation_p.S139F|LAIR1_uc002qfm.1_Missense_Mutation_p.S155F|LAIR1_uc002qfn.1_Missense_Mutation_p.S138F|LAIR1_uc010yex.2_Missense_Mutation_p.S149F|LAIR1_uc002qfo.3_Missense_Mutation_p.S138F	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	156						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CAGGCCTTGGGAAGCAGGTGC	0.498000														97			20		0	0	0.00121646	0	0
OR2A5	393046	broad.mit.edu	37	7	143747859	143747859	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:143747859G>A	uc011ktw.2	+	0	365	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122L(2)|p.R122R(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCCTACGATCGGTACATGGCT	0.468000														90			23		0	0	0.000720815	0	0
NRCAM	4897	broad.mit.edu	37	7	107872849	107872849	+	Silent	SNP	G	A	A	rs150948949		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:107872849G>A	uc022aka.1	-	3	454	c.348C>T	c.(346-348)acC>acT	p.T116T	NRCAM_uc011kmk.2_Silent_p.T116T|NRCAM_uc003vfd.3_Silent_p.T116T|NRCAM_uc003vfe.3_Silent_p.T116T|NRCAM_uc003vfc.3_Silent_p.T110T	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	116	Ig-like 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTCCTTCATAGGTCTCAGCTT	0.468000														95			22		0	0	0.000375601	0	0
B3GALT6	126792	broad.mit.edu	37	1	1168026	1168027	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:1168026_1168027CC>GT	uc001adk.3	+	0	398_399	c.368_369CC>GT	c.(367-369)ccc>cGT	p.P123R	SDF4_uc001adh.4_5'Flank|SDF4_uc001adi.4_5'Flank|SDF4_uc009vjw.3_5'Flank	NM_080605	NP_542172	Q96L58	B3GT6_HUMAN	Homo sapiens UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 (B3GALT6), mRNA.	123					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCTGCTGCCCGCGCTGCGCG	0.738000														14			8		0	0	6.4e-05	0	0
IL36B	27177	broad.mit.edu	37	2	113788703	113788703	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:113788703G>A	uc002tiq.1	-	2	147	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	IL36B_uc002tir.1_Missense_Mutation_p.R15C	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	15					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						CGAGAATCACGAATAGCATAG	0.473000														54			25		0	0	0.001512	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118215322	118215322	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:118215322C>A	uc001lcl.4	+	4	646	c.545C>A	c.(544-546)cCa>cAa	p.P182Q		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	182					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCAAGGATACCAGGCCTTGGA	0.443000														56			5		0.00116845	0.00636445	0.00116845	1	0
EBF3	253738	broad.mit.edu	37	10	131640555	131640555	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:131640555C>T	uc021qav.1	-	12	1229	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	EBF3_uc001lki.2_Silent_p.E390E	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	399					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCAAGATGATCTCCTGCAGCA	0.667000														30			13		0	0	0.00185496	0	0
PEAR1	375033	broad.mit.edu	37	1	156878777	156878777	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:156878777G>A	uc001fqj.1	+	10	1476	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	PEAR1_uc009wsl.1_Missense_Mutation_p.E255K|PEAR1_uc001fqk.1_Missense_Mutation_p.E79K	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	454						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCTCATGTGAAAATGCCAT	0.582000														47			8		0	0	0.000157383	0	0
abParts	0	broad.mit.edu	37	14	106967396	106967396	+	RNA	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:106967396G>A	uc021ser.1	-	263		c.10104C>T								Parts of antibodies, mostly variable regions.																		CTCTAAACTGGAAAAAATCCC	0.562000														44			11		0	0	0.000978159	0	0
RHOH	399	broad.mit.edu	37	4	40245228	40245228	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:40245228G>A	uc003guz.2	+	2	946	c.222G>A	c.(220-222)caG>caA	p.Q74Q	RHOH_uc021xnp.1_Silent_p.Q74Q	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	74	Interaction with ZAP70 (By similarity).				T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGTCCTACCAGCAGGCAGACG	0.552000														36			9		0	0	0.000442599	0	0
RGS7	6000	broad.mit.edu	37	1	240969442	240969442	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:240969442G>A	uc001hyt.2	-	7	817	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	RGS7_uc010pyh.2_Nonsense_Mutation_p.Q397*|RGS7_uc010pyj.1_Nonsense_Mutation_p.Q339*|RGS7_uc001hyu.2_Nonsense_Mutation_p.Q423*|RGS7_uc009xgn.1_Nonsense_Mutation_p.Q370*|RGS7_uc001hyv.2_Nonsense_Mutation_p.Q423*|RGS7_uc001hyw.2_Nonsense_Mutation_p.Q423*	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	423	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.T254I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ACACCCACCTGAGCATCTTCA	0.453000														53			14		0	0	0.000219431	0	0
ZBTB39	9880	broad.mit.edu	37	12	57396833	57396833	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:57396833G>A	uc001sml.2	-	1	2022	c.1869C>T	c.(1867-1869)caC>caT	p.H623H	ZBTB39_uc021qzg.1_Silent_p.H623H	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGATCCGCCGGTGGTAGTTGA	0.552000														50			20		0	0	0.000586117	0	0
USP40	55230	broad.mit.edu	37	2	234386139	234386140	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:234386139_234386140GG>AA	uc010zmr.2	-	30	3642_3643	c.3642_3643CC>TT	c.(3640-3645)gccctc>gcTTtc	p.L1215F	USP40_uc002vul.3_Missense_Mutation_p.L199F	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	1203					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)		TGCTCATGGAGGGCTTCTTGGC	0.559000														25			7		0	0	6.4e-05	0	0
OXGR1	27199	broad.mit.edu	37	13	97639586	97639586	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:97639586G>A	uc001vmx.1	-	3	672	c.428C>T	c.(427-429)tCc>tTc	p.S143F	OXGR1_uc010afr.1_Missense_Mutation_p.S143F|OXGR1_uc021rlr.1_Missense_Mutation_p.S143F	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	143						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TTTGTGAATGGAAAAGCAGCT	0.468000														28			10		0	0	0.000442599	0	0
ABCA5	23461	broad.mit.edu	37	17	67298924	67298924	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:67298924G>A	uc002jif.2	-	6	2272	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.P352S|ABCA5_uc002jih.2_Missense_Mutation_p.P352S|ABCA5_uc010dfe.2_Missense_Mutation_p.P352S	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	352					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AACGATTTGGGAAAACTTTCT	0.323000														73			7		0	0	0.000274275	0	0
ROBO2	6092	broad.mit.edu	37	3	77600060	77600060	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:77600060C>T	uc011bgk.2	+	8	1806	c.1163C>T	c.(1162-1164)tCc>tTc	p.S388F	ROBO2_uc021xat.1_Missense_Mutation_p.S400F|ROBO2_uc003dpy.4_Missense_Mutation_p.S384F|ROBO2_uc003dpz.3_Missense_Mutation_p.S388F|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	384	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.Y388N(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATTCAACGTTCCGACGCGGGT	0.478000														38			12		0	0	0.000978159	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528321	6528321	+	Missense_Mutation	SNP	G	A	A	rs150666859		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:6528321G>A	uc001anp.1	-	20	3304	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	PLEKHG5_uc001ann.1_Missense_Mutation_p.R896C|PLEKHG5_uc001ano.1_Missense_Mutation_p.R915C|PLEKHG5_uc001anq.1_Intron|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.R420C|PLEKHG5_uc009vma.1_Missense_Mutation_p.R699C|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R928C|PLEKHG5_uc001ank.1_Missense_Mutation_p.R859C|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R859C|PLEKHG5_uc001anl.1_Missense_Mutation_p.R859C|PLEKHG5_uc001anm.1_Missense_Mutation_p.R859C	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	915					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCGGCGGCGGAGACGGGGC	0.677000														20			15		0	0	0.000422831	0	0
F7	2155	broad.mit.edu	37	13	113772926	113772926	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:113772926C>T	uc001vsv.3	+	8	1056	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	F7_uc001vsw.3_Silent_p.F313F|F7_uc010tjt.2_Silent_p.F266F	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	335	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGCTGGCCTTCGTGCGCTTCT	0.677000														24			11		0	0	0.00136819	0	0
TAS2R4	50832	broad.mit.edu	37	7	141479032	141479032	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:141479032C>T	uc003vwq.1	+	0	744	c.744C>T	c.(742-744)gtC>gtT	p.V248V		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	Homo sapiens taste receptor, type 2, member 4 (TAS2R4), mRNA.	248					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		CTACCCTGGTCCAGTATCTCC	0.448000														91			17		0	0	0.00152264	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195672	18195672	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:18195672T>C	uc001mnv.1	+	0	1289	c.869T>C	c.(868-870)gTt>gCt	p.V290A		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	290						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTGAAGCTGGTTCTCCAGAGG	0.537000														40			24		0	0	0.000295444	0	0
MAP4K3	8491	broad.mit.edu	37	2	39492369	39492369	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:39492369G>T	uc002rro.3	-	27	2202	c.2111C>A	c.(2110-2112)cCa>cAa	p.P704Q	MAP4K3_uc002rrp.3_Missense_Mutation_p.P683Q|MAP4K3_uc010yns.2_Missense_Mutation_p.P257Q	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	704	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTTCTGCATTGGTTCAACCCA	0.313000														240			9		6.40141e-05	0.000351836	0.000978159	1	0
USP54	159195	broad.mit.edu	37	10	75289504	75289504	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:75289504C>A	uc001juo.3	-	12	2011	c.1994G>T	c.(1993-1995)aGt>aTt	p.S665I	USP54_uc001juk.3_5'UTR|USP54_uc001jul.3_5'UTR|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.S665I|U6_uc021ptn.1_5'Flank|USP54_uc010qkl.1_Missense_Mutation_p.S665I	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	665					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTTCCTCTCACTGCTTTCATA	0.557000											OREG0020266	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		124			20		2.39556e-15	1.33274e-14	0.000375601	1	0
RTN2	6253	broad.mit.edu	37	19	45998062	45998062	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:45998062G>A	uc002pcb.3	-	2	511	c.281C>T	c.(280-282)tCg>tTg	p.S94L	RTN2_uc002pcc.3_Missense_Mutation_p.S94L|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	94						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCGTGGTTCCGAGACTGAGCG	0.677000														33			11		0	0	0.00136819	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598496	151598496	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:151598496G>A	uc003ezf.2	+	2	270	c.165G>A	c.(163-165)tgG>tgA	p.W55*		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	55						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TGAAGAACTGGAACAGCAGTA	0.408000														137			28		0	0	0.001512	0	0
GPX6	257202	broad.mit.edu	37	6	28473486	28473486	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:28473486G>A	uc021yrx.1	-	3	503	c.453C>T	c.(451-453)ttC>ttT	p.F151F	GPX6_uc010jrg.1_Intron	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	151					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GCACCTTCAGGAAAGTAAAGA	0.473000														43			42		0	0	0.000680045	0	0
ABCC9	10060	broad.mit.edu	37	12	22005125	22005125	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:22005125C>T	uc001rfh.3	-	21	2695	c.2675G>A	c.(2674-2676)aGa>aAa	p.R892K	ABCC9_uc001rfi.1_Missense_Mutation_p.R892K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	892	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTTCCTTCTCTTAGGACACT	0.368000														41			5		0	0	0.000602214	0	0
C11orf41	25758	broad.mit.edu	37	11	33689530	33689530	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:33689530G>A	uc021qfs.1	+	19	5504	c.5380G>A	c.(5380-5382)Gag>Aag	p.E1794K		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1794						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CCCCAGCCTGGAGCAGGCCCC	0.667000														21			6		0	0	0.000442599	0	0
TSC2	7249	broad.mit.edu	37	16	2105449	2105450	+	Missense_Mutation	DNP	CC	TT	TT	rs137854207		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:2105449_2105450CC>TT	uc002con.3	+	5	634_635	c.528_529CC>TT	c.(526-531)ttcctt>ttTTtt	p.L177F	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.L177F|TSC2_uc002coo.3_Missense_Mutation_p.L177F|TSC2_uc010uvv.2_Missense_Mutation_p.L140F|TSC2_uc010uvw.2_Missense_Mutation_p.L128F|TSC2_uc002cop.3_Intron	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	177	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTCGGAATTCCTTCTGGTGCT	0.500000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					122			48		0	0	6.4e-05	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149200044	149200044	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:149200044G>A	uc003lrc.3	+	1	218	c.127G>A	c.(127-129)Gac>Aac	p.D43N	PPARGC1B_uc003lrb.2_Missense_Mutation_p.D43N|PPARGC1B_uc003lrd.3_Missense_Mutation_p.D43N|PPARGC1B_uc021yfr.1_Missense_Mutation_p.D18N|PPARGC1B_uc003lre.1_Missense_Mutation_p.D22N|PPARGC1B_uc003lrf.3_Missense_Mutation_p.D22N	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	43	Abolishes DNA transcriptional activity when missing.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity	p.L42L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCCAGAACTTGACCTCTCCCA	0.582000														48			29		0	0	0.00178596	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177276	89177276	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:89177276C>T	uc022bzr.1	+	0	192	c.192C>T	c.(190-192)atC>atT	p.I64I	TGIF2LX_uc004efe.3_Silent_p.I64I	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCGTTAAGATCCTCCGCGACT	0.463000														14			11		0	0	0.000422831	0	0
DKFZp666K117	0	broad.mit.edu	37	13	32527072	32527072	+	RNA	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:32527072C>T	uc001utu.2	+	3		c.830C>T			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		TCCCATGCGCCAAGTGGAGCC	0.612000														30			5		0	0	0.00116845	0	0
NME8	51314	broad.mit.edu	37	7	37927957	37927957	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:37927957G>A	uc003tfn.3	+	14	1698	c.1326G>A	c.(1324-1326)agG>agA	p.R442R		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	442	NDK 2.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CCGCTGAAAGGGAAATACAGC	0.378000														54			14		0	0	0.000308642	0	0
TRO	7216	broad.mit.edu	37	X	54957315	54957315	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:54957315C>T	uc004dtq.3	+	11	4265	c.4158C>T	c.(4156-4158)ttC>ttT	p.F1386F	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Silent_p.F917F|TRO_uc004dtw.3_Silent_p.F989F|TRO_uc004dtx.3_Silent_p.F769F	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	1386	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCAGTGGCTTCAGCGGTGGAC	0.607000														24			17		0	0	0.000958276	0	0
STK31	56164	broad.mit.edu	37	7	23827599	23827599	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:23827599G>A	uc003sws.4	+	21	2555	c.2488_splice	c.e21-1	p.E830_splice	STK31_uc003swt.4_Splice_Site_p.E807_splice|STK31_uc011jze.2_Splice_Site_p.E830_splice|STK31_uc010kuq.3_Splice_Site_p.E807_splice|STK31_uc003swv.1_Splice_Site	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	830	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTATCTATAGGAAACTTTAAA	0.348000														78			12		0	0	0.000219431	0	0
LIFR	3977	broad.mit.edu	37	5	38502883	38502883	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:38502883C>T	uc010ive.1	-	10	1788	c.1456G>A	c.(1456-1458)Gga>Aga	p.G486R	LIFR_uc003jli.2_Missense_Mutation_p.G486R	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	486	Fibronectin type-III 3.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTTTCTACTCCTTTGATTGTG	0.284000			T	PLAG1	salivary adenoma									31			11		0	0	0.000673444	0	0
AHNAK	79026	broad.mit.edu	37	11	62294950	62294950	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:62294950G>A	uc001ntl.3	-	4	7239	c.6939C>T	c.(6937-6939)tcC>tcT	p.S2313S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2313					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)				CATCAGGCATGGAGATCTTGG	0.468000														168			31		0	0	0.000491102	0	0
PROX2	283571	broad.mit.edu	37	14	75323691	75323691	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:75323691C>T	uc021rwo.1	-	3	1421	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	PROX2_uc001xqp.2_Missense_Mutation_p.R472H|PROX2_uc001xqq.2_Missense_Mutation_p.R247H	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	474					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGTAATGCAGCGGTTGAACTG	0.448000														132			28		0	0	0.00178596	0	0
CEP170P1	645455	broad.mit.edu	37	4	119461450	119461450	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:119461450G>A	uc003icb.3	+	3	347	c.263G>A	c.(262-264)gGa>gAa	p.G88E						Homo sapiens centrosomal protein 170kDa pseudogene 1 (CEP170P1), non-coding RNA.																		ACACCAGAAGGAAACAACGGT	0.448000														34			5		0	0	0.00116845	0	0
C15orf27	123591	broad.mit.edu	37	15	76430111	76430111	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:76430111C>T	uc002bbq.3	+	2	257	c.102C>T	c.(100-102)acC>acT	p.T34T	C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	34						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						ACGAAGAAACCAAGAGCATTG	0.527000														88			21		0	0	0.00188189	0	0
P4HTM	54681	broad.mit.edu	37	3	49043169	49043169	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:49043169C>T	uc003cvh.3	+	6	1565	c.1216C>T	c.(1216-1218)Cca>Tca	p.P406S	P4HTM_uc003cvg.3_Intron|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	343	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTGGGAGCATCCACAACTGGG	0.577000														40			11		0	0	0.000673444	0	0
MTTP	4547	broad.mit.edu	37	4	100530059	100530059	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:100530059G>C	uc011cej.2	+	11	1788	c.1775G>C	c.(1774-1776)gGg>gCg	p.G592A	MTTP_uc003hvc.4_Missense_Mutation_p.G565A	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	565	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CTGTCTATTGGGGAGCTTCCC	0.418000														78			5		0	0	0.00116845	0	0
RIN2	54453	broad.mit.edu	37	20	19981530	19981530	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:19981530C>T	uc002wro.2	+	11	2934	c.2785C>T	c.(2785-2787)Cct>Tct	p.P929S	RIN2_uc010gcu.2_Missense_Mutation_p.P447S|RIN2_uc010gcv.2_Missense_Mutation_p.P674S	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	880					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	p.P880S(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CAAGAACGATCCTTATGGCAT	0.537000														46			7		0	0	0.000157383	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561165	11561165	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:11561165G>A	uc001ash.4	+	1	254	c.116G>A	c.(115-117)gGg>gAg	p.G39E	PTCHD2_uc001asi.1_Missense_Mutation_p.G39E	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	39			G -> R (in dbSNP:rs41274528).		cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCCAACCTGGGGCAGGGGGA	0.647000														20			16		0	0	0.000958276	0	0
ODZ3	55714	broad.mit.edu	37	4	183659601	183659601	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:183659601G>A	uc003ivd.1	+	16	3358	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	ODZ3_uc003ive.1_Missense_Mutation_p.E501K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1095					signal transduction	integral to membrane		p.E1095*(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GACTCTGTGGGAAAAGAGGAC	0.468000														182			45		0	0	0.000781405	0	0
SPAG6	9576	broad.mit.edu	37	10	22675742	22675742	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:22675742G>A	uc001iri.3	+	4	699	c.532G>A	c.(532-534)Gag>Aag	p.E178K	SPAG6_uc010qct.2_Missense_Mutation_p.E153K|SPAG6_uc009xkh.3_Missense_Mutation_p.E156K|SPAG6_uc001irj.3_Missense_Mutation_p.E178K|SPAG6_uc021poe.1_5'UTR	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	178					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CTGTATCCAGGAGCCAGAAAT	0.463000														60			8		0	0	0.000978159	0	0
ACAN	176	broad.mit.edu	37	15	89386843	89386843	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:89386843G>A	uc010upo.1	+	5	1389	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	ACAN_uc002bmx.3_Missense_Mutation_p.D339N|ACAN_uc010upp.1_Missense_Mutation_p.D339N|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	339					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)			GGGCTACCCCGACCCCTCATC	0.642000														43			9		0	0	0.000978159	0	0
SETX	23064	broad.mit.edu	37	9	135224778	135224778	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:135224778G>T	uc004cbk.3	-	2	221	c.38C>A	c.(37-39)tCc>tAc	p.S13Y		NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	13					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTCAATGGTGGAAGCACCACC	0.488000														51			12		1.3612e-06	7.51549e-06	0.000308642	1	0
ACBD6	84320	broad.mit.edu	37	1	180382602	180382602	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:180382602C>T	uc001gog.3	-	4	1093	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	Homo sapiens acyl-CoA binding domain containing 6 (ACBD6), mRNA.	158						cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						TTTTTGTCTTCTTCCCTAGAA	0.303000														54			20		0	0	0.000295444	0	0
TLR4	7099	broad.mit.edu	37	9	120475443	120475443	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:120475443C>T	uc004bjz.3	+	2	1328	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L	TLR4_uc004bkb.3_Missense_Mutation_p.P146L|TLR4_uc004bka.3_Missense_Mutation_p.P306L	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	346					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGACAGTTTCCCACATTGAAA	0.358000														82			14		0	0	0.000219431	0	0
SPRR1B	6699	broad.mit.edu	37	1	153005041	153005041	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:153005041C>T	uc001fba.3	+	1	284	c.220C>T	c.(220-222)Cct>Tct	p.P74S	SPRR1B_uc021ozp.1_Missense_Mutation_p.P74S	NM_003125	NP_003116	P22528	SPR1B_HUMAN	Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA.	74	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGCCCTGCCCTTCAATAGT	0.627000														48			11		0	0	0.00185496	0	0
KCNH1	3756	broad.mit.edu	37	1	210857365	210857365	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:210857365C>T	uc001hib.2	-	10	2398	c.2228G>A	c.(2227-2229)aGa>aAa	p.R743K	KCNH1_uc001hic.2_Missense_Mutation_p.R716K	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	743	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTGTCGGAATCTCTGGAAGAG	0.582000														45			8		0	0	0.000978159	0	0
FAT4	79633	broad.mit.edu	37	4	126370109	126370109	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:126370109C>T	uc003ifj.4	+	8	7938	c.7938C>T	c.(7936-7938)ttC>ttT	p.F2646F	FAT4_uc011cgp.2_Silent_p.F944F|FAT4_uc003ifi.1_Silent_p.F124F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2646	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						acggtggtttccctcctttct	0.368000														34			9		0	0	0.000442599	0	0
DHX16	8449	broad.mit.edu	37	6	30633507	30633507	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:30633507G>A	uc003nqz.3	-	4	882	c.670C>T	c.(670-672)Cct>Tct	p.P224S	DHX16_uc011dmo.2_Missense_Mutation_p.P164S	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	224					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						CGCAGCTCAGGGACCTGAGTT	0.557000														38			32		0	0	0.00111076	0	0
NAP1L3	4675	broad.mit.edu	37	X	92928261	92928261	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:92928261G>A	uc004efq.3	-	0	422	c.43C>T	c.(43-45)Cat>Tat	p.H15Y	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	15					nucleosome assembly	chromatin assembly complex		p.A14S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GCAACCCCATGGGCGACAGGT	0.532000														21			12		0	0	0.00185496	0	0
COL5A1	1289	broad.mit.edu	37	9	137591825	137591825	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:137591825G>A	uc004cfe.3	+	2	730	c.348G>A	c.(346-348)ctG>ctA	p.L116L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	116	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGCCTTCCTGGTCTCCATCT	0.592000														69			13		0	0	0.00136819	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68178328	68178328	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:68178328T>C	uc003xxo.2	-	13	2426	c.2036A>G	c.(2035-2037)tAc>tGc	p.Y679C	ARFGEF1_uc003xxl.1_Missense_Mutation_p.Y133C	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	679					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTGTGTACTGTAGCTGCCTAT	0.383000														60			25		0	0	0.00106085	0	0
DOCK1	1793	broad.mit.edu	37	10	129209130	129209130	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:129209130G>T	uc010qun.2	+	42	4434	c.4370G>T	c.(4369-4371)cGa>cTa	p.R1457L	DOCK1_uc001ljt.3_Missense_Mutation_p.R1436L|DOCK1_uc009yaq.3_Missense_Mutation_p.R431L	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1436	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GAGGTCCAGCGATTTGAATAT	0.413000														25			5		0.000602214	0.00329006	0.000602214	1	0
ZIM3	114026	broad.mit.edu	37	19	57647025	57647025	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:57647025T>C	uc002qnz.1	-	4	1066	c.680A>G	c.(679-681)aAc>aGc	p.N227S		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTTCCACAGTTCTCACATTT	0.413000														116			25		0	0	0.00106085	0	0
C15orf23	90417	broad.mit.edu	37	15	40675132	40675132	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:40675132G>A	uc001zll.3	+	0	211	c.96G>A	c.(94-96)cgG>cgA	p.R32R	C15orf23_uc001zlo.3_Silent_p.R32R|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Silent_p.R32R	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	32						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CTAGCTACCGGAAGTTTCTAT	0.577000														45			13		0	0	0.00185496	0	0
SRSF7	6432	broad.mit.edu	37	2	38977248	38977248	+	Silent	SNP	A	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:38977248A>G	uc002rqz.3	-	1	355	c.117T>C	c.(115-117)acT>acC	p.T39T	SRSF7_uc010ynp.2_Silent_p.T39T|SRSF7_uc002rra.3_Non-coding_Transcript|GEMIN6_uc002rrb.3_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA.	39	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CAATCCATACAGTTCTTAAAG	0.428000														59			25		0	0	0.000586117	0	0
CYP2C9	1559	broad.mit.edu	37	10	96731971	96731971	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:96731971C>T	uc001kka.4	+	5	955	c.930C>T	c.(928-930)ctC>ctT	p.L310L	CYP2C9_uc009xut.3_Silent_p.L308L	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	310					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GATATGCTCTCCTTCTCCTGC	0.433000														108			14		0	0	0.000219431	0	0
WFDC8	90199	broad.mit.edu	37	20	44184421	44184421	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:44184421G>A	uc002xow.3	-	3	443	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	WFDC8_uc002xox.3_Missense_Mutation_p.P122S	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	122	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TATTTGAAGGGTGTGCAGCGG	0.488000														51			8		0	0	0.000274275	0	0
PLCB1	23236	broad.mit.edu	37	20	8705394	8705394	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:8705394C>T	uc002wnb.3	+	15	1676	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	PLCB1_uc010zrb.1_Missense_Mutation_p.S457L|PLCB1_uc002wna.3_Missense_Mutation_p.S558L|PLCB1_uc002wnc.1_Missense_Mutation_p.S457L|PLCB1_uc002wnd.1_Missense_Mutation_p.S135L	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	558	PI-PLC Y-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTTGAAATTTCAAAAAGTAAG	0.378000														42			6		0	0	8.12818e-05	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775475	77775475	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:77775475C>T	uc003yau.2	+	10	9912	c.9525C>T	c.(9523-9525)tcC>tcT	p.S3175S		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ctccttcatcctcTCTGTCAG	0.507000										HNSCC(33;0.089)				4			3		0	0	6.4e-05	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345847	24345847	+	RNA	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:24345847C>T	uc010edb.1	-	0		c.403G>A								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		TTGGTGTAGTCGTGACCCTGG	0.458000														188			37		0	0	0.000814825	0	0
OR4X1	390113	broad.mit.edu	37	11	48285724	48285724	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:48285724C>T	uc010rht.2	+	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCCTCCATTTCTTTGGTGGCA	0.498000														43			13		0	0	0.00185496	0	0
ZNF883	169834	broad.mit.edu	37	9	115760460	115760460	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:115760460G>A	uc011lwy.2	-	4	1319	c.80C>T	c.(79-81)tCc>tTc	p.S27F		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CTGGGTCAGGGATGCAAGACA	0.388000														78			18		0	0	0.00121646	0	0
OR4C11	219429	broad.mit.edu	37	11	55371162	55371162	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:55371162C>T	uc010rii.2	-	0	713	c.688G>A	c.(688-690)Ggg>Agg	p.G230R		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTTTTCTTCCCTTTGGCACTG	0.408000														19			24		0	0	0.000878237	0	0
KIAA1524	57650	broad.mit.edu	37	3	108300998	108300998	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:108300998C>A	uc003dxb.4	-	3	678	c.409G>T	c.(409-411)Ggt>Tgt	p.G137C	KIAA1524_uc003dxc.1_5'UTR|KIAA1524_uc010hpw.1_Intron	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	137						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATATTGGCACCAGAATAGAAA	0.249000														199			8		0.000978159	0.00533595	0.000978159	1	0
FAT4	79633	broad.mit.edu	37	4	126411606	126411606	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:126411606G>A	uc003ifj.4	+	16	13629	c.13629G>A	c.(13627-13629)ccG>ccA	p.P4543P	FAT4_uc011cgp.2_Silent_p.P2784P|FAT4_uc003ifi.1_Silent_p.P2020P	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4543					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P4543P(1)|p.P4486P(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAAGAAACCGAAGGAGAAGA	0.517000														41			15		0	0	0.000308642	0	0
TECTB	6975	broad.mit.edu	37	10	114044409	114044409	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:114044409G>A	uc001kzr.1	+	1	193	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	65	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TGGGGTCCACGAAGGAGGTTA	0.493000														17			5		0	0	0.000602214	0	0
PATE2	399967	broad.mit.edu	37	11	125648651	125648651	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:125648651G>A	uc001qcu.3	-	0	64	c.18C>T	c.(16-18)ctC>ctT	p.L6L	PATE2_uc010sbj.2_Silent_p.L6L	NM_212555	NP_997720	Q6UY27	PATE2_HUMAN	Homo sapiens prostate and testis expressed 2 (PATE2), mRNA.	6						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						CTGTGCCCAGGAGAAAGAGAA	0.517000														17			12		0	0	0.00185496	0	0
BAAT	570	broad.mit.edu	37	9	104130542	104130542	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:104130542G>A	uc010mtd.3	-	2	638	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	BAAT_uc004bbd.4_Missense_Mutation_p.R177W	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	177					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AGGCTGGCCCGAAATTCAAGC	0.478000														49			9		0	0	0.000978159	0	0
HAL	3034	broad.mit.edu	37	12	96384290	96384290	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:96384290G>A	uc001tem.1	-	9	1033	c.736C>T	c.(736-738)Cca>Tca	p.P246S	HAL_uc010sux.1_Missense_Mutation_p.P246S|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.P38S	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	246					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CCTTTCTCTGGGACATAGGGC	0.547000														53			9		0	0	0.000442599	0	0
DAB1	1600	broad.mit.edu	37	1	57538063	57538063	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:57538063G>A	uc009vzx.1	-	4	651	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	DAB1_uc001cyt.1_Missense_Mutation_p.H111Y|DAB1_uc001cyq.1_Missense_Mutation_p.H111Y|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.H111Y|DAB1_uc001cys.1_Missense_Mutation_p.H111Y	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	111	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GATATTTCATGAACAGCATGA	0.408000														50			11		0	0	0.000978159	0	0
CD300E	342510	broad.mit.edu	37	17	72608888	72608888	+	Silent	SNP	G	A	A	rs145226937		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:72608888G>A	uc002jlb.2	-	3	659	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	174						integral to membrane|plasma membrane	receptor activity	p.F174F(2)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCACGAGCAGGAAGTGAGGGC	0.612000														91			11		0	0	0.00185496	0	0
NLRP7	199713	broad.mit.edu	37	19	55445094	55445094	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:55445094G>A	uc002qih.4	-	7	2561	c.2485C>T	c.(2485-2487)Cgt>Tgt	p.R829C	NLRP7_uc010esk.3_Missense_Mutation_p.R829C|NLRP7_uc002qig.4_Missense_Mutation_p.R801C|NLRP7_uc002qii.4_Missense_Mutation_p.R829C|NLRP7_uc010esl.3_Missense_Mutation_p.R857C	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	829							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCTGTAAGACGACAGTTTTCC	0.478000														53			13		0	0	0.00185496	0	0
GALNT8	26290	broad.mit.edu	37	12	4854792	4854792	+	Splice_Site	SNP	A	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:4854792A>G	uc001qne.1	+	5	1150	c.1058_splice	c.e5+1	p.K353_splice		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	353	Catalytic subdomain B.					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						GCCCCAGTGAAGTAAGTCTGA	0.478000														30			6		0	0	8.12818e-05	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879485	94879485	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:94879485C>T	uc003unp.3	+	8	2530	c.2248C>T	c.(2248-2250)Ctc>Ttc	p.L750F	PPP1R9A_uc010lfj.3_Missense_Mutation_p.L772F|PPP1R9A_uc011kif.2_Missense_Mutation_p.L750F|PPP1R9A_uc003unq.3_Missense_Mutation_p.L750F|PPP1R9A_uc011kig.2_Missense_Mutation_p.L750F	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	750	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAATGAGCATCTCAAAGAGAC	0.388000										HNSCC(28;0.073)				51			10		0	0	0.000978159	0	0
EP400	57634	broad.mit.edu	37	12	132490709	132490709	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:132490709C>T	uc001ujn.3	+	13	3140	c.2988C>T	c.(2986-2988)atC>atT	p.I996I	EP400_uc021rgq.1_Silent_p.I995I|EP400_uc001ujm.3_Silent_p.I996I	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1032	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.D996N(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGTTCTCATCGACTCGCTTT	0.512000														35			7		0	0	0.000157383	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41064581	41064581	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:41064581G>A	uc003jmj.4	-	4	943	c.453C>T	c.(451-453)ttC>ttT	p.F151F	HEATR7B2_uc021xxt.1_Silent_p.F151F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	151							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CACCAATACAGAAAGTCCCCT	0.448000														19			7		0	0	8.12818e-05	0	0
TELO2	9894	broad.mit.edu	37	16	1552363	1552363	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:1552363C>T	uc002cly.3	+	12	1902	c.1611C>T	c.(1609-1611)gcC>gcT	p.A537A		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	537						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCCTGCGGGCCCTTGAGGGCC	0.667000														11			6		0	0	0.000157383	0	0
PEX1	5189	broad.mit.edu	37	7	92134177	92134177	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:92134177G>A	uc003uly.3	-	11	2036	c.1940C>T	c.(1939-1941)gCt>gTt	p.A647V	PEX1_uc011khr.2_Missense_Mutation_p.A439V|PEX1_uc010ley.3_Intron|PEX1_uc011khs.2_Missense_Mutation_p.A325V|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	647			Missing (in NALD).		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTCTGAGAAAGCCACCTCTAG	0.458000														99			20		0	0	0.00047179	0	0
MAML2	84441	broad.mit.edu	37	11	95712321	95712321	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:95712321G>A	uc001pfw.1	-	4	4547	c.3262C>T	c.(3262-3264)Cct>Tct	p.P1088S		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	1088					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTGGGTGAAGGAAAATTGCTG	0.488000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid									63			11		0	0	0.000978159	0	0
ST18	9705	broad.mit.edu	37	8	53044549	53044549	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:53044549G>A	uc003xqz.2	-	16	2791	c.2635C>T	c.(2635-2637)Cat>Tat	p.H879Y	ST18_uc011ldq.1_Missense_Mutation_p.H526Y|ST18_uc011ldr.1_Missense_Mutation_p.H844Y|ST18_uc011lds.1_Missense_Mutation_p.H784Y|ST18_uc003xra.2_Missense_Mutation_p.H879Y	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	879						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)				TTATTTACATGGCCCAGCCCA	0.488000														58			10		0	0	0.000978159	0	0
ARPP19	10776	broad.mit.edu	37	15	52849387	52849387	+	Silent	SNP	T	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:52849387T>C	uc002acd.1	-	1	202	c.78A>G	c.(76-78)aaA>aaG	p.K26K	ARPP19_uc002ace.1_Silent_p.K26K	NM_006628	NP_006619	P56211	ARP19_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 19kDa (ARPP19), mRNA.	26					G2/M transition of mitotic cell cycle|cell division|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding	p.E25E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CTTCTTCTGCTTTCTCTGGAC	0.328000														45			11		0	0	0.000978159	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213403858	213403858	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:213403858A>G	uc010ptr.2	+	8	1222	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	RPS6KC1_uc001hkd.3_Missense_Mutation_p.T343A|RPS6KC1_uc010pts.2_Missense_Mutation_p.T143A|RPS6KC1_uc010ptt.2_Missense_Mutation_p.T143A|RPS6KC1_uc010ptu.2_Missense_Mutation_p.T174A|RPS6KC1_uc010ptv.2_Intron|RPS6KC1_uc001hke.3_Missense_Mutation_p.T174A	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	355	Protein kinase 1.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGTAATGGACACAAGGACAGA	0.343000														68			12		0	0	0.000219431	0	0
SLC45A3	85414	broad.mit.edu	37	1	205585768	205585768	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:205585768G>A	uc001hcy.2	-	4	2452	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L	SLC45A3_uc021pid.1_Non-coding_Transcript	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CAGTACAGAAGGAAACTGAGA	0.443000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									28			8		0	0	0.000157383	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228576	142228576	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:142228576C>T	uc003ywd.1	-	3	1318	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	SLC45A4_uc003ywc.1_Missense_Mutation_p.G337D|SLC45A4_uc010meq.1_Missense_Mutation_p.G335D	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	388					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGTGGGGGAGCCACTTCCGTT	0.637000														50			27		0	0	0.00127121	0	0
COL18A1	80781	broad.mit.edu	37	21	46902721	46902721	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr21:46902721G>C	uc002zhi.3	+	13	2248	c.2227G>C	c.(2227-2229)Gcc>Ccc	p.A743P	COL18A1_uc002zhg.3_Missense_Mutation_p.A563P	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	978	Nonhelical region 1 (NC1).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGAAGCAGGCGCCCCAGGACA	0.592000														40			5		0	0	8.12818e-05	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045927	42045927	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:42045927G>A	uc001cgz.4	-	3	5755	c.4542C>T	c.(4540-4542)ccC>ccT	p.P1514P	HIVEP3_uc001cha.4_Silent_p.P1514P|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1514					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTGAGGGAGGGGAGGAATTT	0.557000														32			19		0	0	0.000295444	0	0
MST1P2	11209	broad.mit.edu	37	1	16974592	16974592	+	RNA	SNP	C	T	T	rs71253919	by1000genomes	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:16974592C>T	uc010och.2	+	6		c.1052C>T			MST1P2_uc001azk.2_Non-coding_Transcript|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.																		TGCCGGAACCCCGACGGCTCA	0.667000														30			9		0	0	0.00136819	0	0
FRY	10129	broad.mit.edu	37	13	32747550	32747551	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:32747550_32747551CC>AA	uc001utx.3	+	18	2694_2695	c.2198_2199CC>AA	c.(2197-2199)ccc>cAA	p.P733Q	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAACGAGGTCCCCACTGCAGTG	0.450000														118			8		0	0	6.4e-05	0	0
RTTN	25914	broad.mit.edu	37	18	67836153	67836153	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:67836153T>A	uc002lkp.2	-	11	1695	c.1627A>T	c.(1627-1629)Act>Tct	p.T543S	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.T543S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	543							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCCTCTGCAGTTCGTTTATAA	0.348000														101			23		0	0	0.00047179	0	0
GOLGA4	2803	broad.mit.edu	37	3	37368450	37368450	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:37368450G>A	uc003cgv.3	+	13	5433	c.5073G>A	c.(5071-5073)ttG>ttA	p.L1691L	GOLGA4_uc010hgr.2_Silent_p.L1252L|GOLGA4_uc003cgw.3_Silent_p.L1713L|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Silent_p.L1572L	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1691	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTCACATCTTGGAAGAAAAAC	0.358000														155			32		0	0	0.000339439	0	0
FN1	2335	broad.mit.edu	37	2	216263996	216263996	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:216263996G>A	uc002vfa.3	-	20	3598	c.3332C>T	c.(3331-3333)cCa>cTa	p.P1111L	FN1_uc002vfc.3_Missense_Mutation_p.P1111L|FN1_uc002vfe.3_Missense_Mutation_p.P1111L|FN1_uc002vff.3_Missense_Mutation_p.P1111L|FN1_uc002vfg.3_Missense_Mutation_p.P1111L|FN1_uc002vfh.3_Missense_Mutation_p.P1111L|FN1_uc002vfi.3_Missense_Mutation_p.P1111L|FN1_uc002vfj.3_Missense_Mutation_p.P1111L|FN1_uc002vfb.3_Missense_Mutation_p.P1111L	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1111	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCAATTCTTGGAGCAGGCGT	0.498000														72			27		0	0	0.00127121	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762107	101762107	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:101762107C>T	uc001pgl.3	-	8	1666	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	357	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CCATTGAATTCCAGTTGCAAG	0.383000														148			33		0	0	0.000814825	0	0
VWA2	340706	broad.mit.edu	37	10	116044669	116044669	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:116044669G>A	uc001lbl.1	+	9	1258	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	VWA2_uc001lbk.1_Missense_Mutation_p.E313K|VWA2_uc009xyf.1_Silent_p.Q7Q	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	313	EGF-like 1.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ATGTGTTCCAGAAGGACTGGA	0.607000														10			6		0	0	0.000274275	0	0
SPAG17	200162	broad.mit.edu	37	1	118567963	118567963	+	Nonsense_Mutation	SNP	A	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:118567963A>C	uc001ehk.2	-	26	3875	c.3807T>G	c.(3805-3807)taT>taG	p.Y1269*		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1269						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TATAGAACTCATAGTGCTTCA	0.463000														49			25		0	0	0.000586117	0	0
C5orf42	65250	broad.mit.edu	37	5	37169642	37169642	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:37169642G>A	uc011cpa.1	-	33	6715	c.6484C>T	c.(6484-6486)Cct>Tct	p.P2162S	C5orf42_uc011coy.1_Missense_Mutation_p.P662S|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P1237S|C5orf42_uc003jkr.1_Missense_Mutation_p.P195S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2162										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)			TGACATAAAGGAATACTCCCA	0.358000														54			27		0	0	0.00178596	0	0
B4GALT5	9334	broad.mit.edu	37	20	48263558	48263559	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:48263558_48263559GG>AA	uc002xuu.4	-	2	501_502	c.307_308CC>TT	c.(307-309)cct>TTt	p.P103F		NM_004776	NP_004767	O43286	B4GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 (B4GALT5), mRNA.	103					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			GAAGTCTTCAGGAAGAAATGTT	0.436000														64			5		0	0	6.4e-05	0	0
KIAA0564	23078	broad.mit.edu	37	13	42293798	42293798	+	Silent	SNP	T	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:42293798T>G	uc001uyj.3	-	25	3115	c.3045A>C	c.(3043-3045)atA>atC	p.I1015I	KIAA0564_uc001uyk.3_Silent_p.I1015I	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1015						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TGTTAATCAATATCTCCCTCA	0.393000														59			20		0	0	0.000586117	0	0
THAP4	51078	broad.mit.edu	37	2	242545819	242545819	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:242545819G>A	uc002wbt.3	-	2	1603	c.1310C>T	c.(1309-1311)cCt>cTt	p.P437L	THAP4_uc002wbs.3_Missense_Mutation_p.P25L	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	437							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-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;0.0844)		CCCGGCTCCAGGTGGGTCCGA	0.597000														7			5		0	0	0.00116845	0	0
ZBTB41	360023	broad.mit.edu	37	1	197129067	197129067	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:197129067G>A	uc001gtx.1	-	9	2221	c.2152C>T	c.(2152-2154)Cat>Tat	p.H718Y	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	718					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GCATCAGAATGAATAACCAGG	0.333000														52			14		0	0	0.000219431	0	0
SPATA16	83893	broad.mit.edu	37	3	172694801	172694801	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:172694801C>T	uc003fin.4	-	4	1074	c.890G>A	c.(889-891)gGa>gAa	p.G297E		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	297					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTCTTCCCTTCCTCCACCAAG	0.393000														77			8		0	0	0.000442599	0	0
RABGAP1	23637	broad.mit.edu	37	9	125835866	125835866	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:125835866G>A	uc011lzh.2	+	15	2153	c.2019G>A	c.(2017-2019)aaG>aaA	p.K673K	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Silent_p.K12K	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	673	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TTCTGGTCAAGATCATGTTTG	0.443000														150			25		0	0	0.000586117	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686141	125686141	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:125686141C>T	uc022cds.1	-	0	451	c.451G>A	c.(451-453)Ggc>Agc	p.G151S	DCAF12L1_uc004eul.3_Missense_Mutation_p.G151S	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	151										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCATGGATGCCGCAGCCCTGT	0.637000														17			4		0	0	0.00116845	0	0
RBBP6	5930	broad.mit.edu	37	16	24567190	24567190	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:24567190C>T	uc002dmh.3	+	5	1526	c.486C>T	c.(484-486)ttC>ttT	p.F162F	RBBP6_uc010vcb.1_Silent_p.F29F|RBBP6_uc002dmi.3_Silent_p.F162F|RBBP6_uc010bxr.3_Silent_p.F162F|RBBP6_uc002dmk.3_Silent_p.F29F	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	162					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.F162F(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACACGTGTTTCCGTTGTGGTA	0.358000														42			16		0	0	0.00121646	0	0
ESRP2	80004	broad.mit.edu	37	16	68267328	68267328	+	Splice_Site	SNP	C	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:68267328C>A	uc010cfa.1	-	5	745	c.557_splice	c.e5-1	p.G186_splice	ESRP2_uc002evp.1_5'Flank|ESRP2_uc002evq.1_Splice_Site_p.G186_splice	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	186					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CAGTCCTAAACCTATGGGCAG	0.498000														29			11		1.58986e-06	8.7647e-06	0.000673444	1	0
TLR2	7097	broad.mit.edu	37	4	154625875	154625875	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:154625875G>A	uc003inq.3	+	2	2035	c.1816G>A	c.(1816-1818)Ggg>Agg	p.G606R	TLR2_uc003inr.3_Missense_Mutation_p.G606R|TLR2_uc003ins.3_Missense_Mutation_p.G606R|TLR2_uc021xtl.1_Missense_Mutation_p.G606R	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	606					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CCTGCTCACGGGGGTCCTGTG	0.577000														21			8		0	0	0.000274275	0	0
LRMP	4033	broad.mit.edu	37	12	25232178	25232178	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:25232178G>A	uc001rgh.3	+	6	1119	c.25_splice	c.e6-1	p.E9_splice	LRMP_uc001rgg.2_Splice_Site|LRMP_uc010sja.2_Splice_Site_p.E9_splice|LRMP_uc010sjc.2_Splice_Site_p.E9_splice|LRMP_uc001rgi.3_Splice_Site|LRMP_uc010sjb.2_Splice_Site|LRMP_uc010sjd.2_Splice_Site	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	65					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TTTCCTTAAGGAGAATGGTGT	0.368000														99			12		0	0	0.00136819	0	0
FMO3	2328	broad.mit.edu	37	1	171085366	171085366	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:171085366C>T	uc001ghi.3	+	7	1313	c.1202C>T	c.(1201-1203)tCt>tTt	p.S401F	FMO3_uc001ghh.3_Missense_Mutation_p.S401F|FMO3_uc010pmb.2_Missense_Mutation_p.S381F|FMO3_uc010pmc.2_Missense_Mutation_p.S338F	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	401				PSMEDM -> GPFYGKTL (in Ref. 1; AAA86284).	xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACTTTGCCTTCTATGGAAGAC	0.353000														101			15		0	0	0.00074312	0	0
PDE7B	27115	broad.mit.edu	37	6	136429884	136429884	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:136429884G>A	uc003qgp.3	+	2	401	c.98G>A	c.(97-99)aGg>aAg	p.R33K	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.R85K	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	33					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	ATACGACTAAGGGGTCAGACG	0.453000														61			18		0	0	0.00188189	0	0
SLC35D2	11046	broad.mit.edu	37	9	99084312	99084312	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:99084312G>A	uc004awc.3	-	10	958	c.882C>T	c.(880-882)ttC>ttT	p.F294F	SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Silent_p.F206F	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.	294						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				TTAACAAAGAGAAAATGTAGT	0.353000														113			23		0	0	0.000878237	0	0
CCDC74B	91409	broad.mit.edu	37	2	130900001	130900001	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:130900001G>A	uc010yzw.1	-	1	1299	c.555C>T	c.(553-555)tcC>tcT	p.S185S	CCDC74B_uc002tqm.1_Intron|CCDC74B_uc002tqn.1_Intron|CCDC74B_uc010yzx.1_3'UTR			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	0										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					AGGTCCCGAGGGAGAGCATGG	0.637000														45			5		0	0	0.00116845	0	0
OR9G9	390174	broad.mit.edu	37	11	56468589	56468589	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:56468589C>T	uc010rjn.2	+	0	726	c.726C>T	c.(724-726)tcC>tcT	p.S242S	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S242S(1)									CATGCTCCTCCCACCTGACCT	0.478000														234			19		0	0	0.000586117	0	0
TOMM70A	9868	broad.mit.edu	37	3	100093971	100093971	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:100093971C>T	uc003dtw.3	-	6	1567	c.1118G>A	c.(1117-1119)aGa>aAa	p.R373K		NM_014820	NP_055635	O94826	TOM70_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.	373					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CATGCTGCCTCTTTTGATGAG	0.413000														133			27		0	0	0.000339439	0	0
IL36RN	26525	broad.mit.edu	37	2	113820197	113820197	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:113820197C>T	uc002tis.3	+	4	544	c.411C>T	c.(409-411)ccC>ccT	p.P137P	IL36RN_uc002tit.3_Silent_p.P137P	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	137						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CCCAGCTTCCCGAGAATGGTG	0.627000														33			6		0	0	0.000157383	0	0
UBTFL1	642623	broad.mit.edu	37	11	89819577	89819577	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:89819577C>T	uc010rub.2	+	0	460	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA.	154					multicellular organismal development	cytoplasm|nucleus	DNA binding										TCAGGATTTCCGGAAGGAAAA	0.433000														33			7		0	0	0.000157383	0	0
SLC9C1	285335	broad.mit.edu	37	3	111923085	111923085	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:111923085G>A	uc003dyu.3	-	16	2374	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.R670C	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	718					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CGTAGTATACGAAAAAATTGA	0.264000														49			7		0	0	0.000157383	0	0
MYPN	84665	broad.mit.edu	37	10	69948796	69948796	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:69948796C>T	uc001jnm.4	+	13	3023	c.2838C>T	c.(2836-2838)atC>atT	p.I946I	MYPN_uc001jnn.4_Silent_p.I671I|MYPN_uc001jno.4_Silent_p.I946I|MYPN_uc009xpt.3_Silent_p.I946I|MYPN_uc010qit.2_Silent_p.I652I|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	946	Ig-like 3.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTGCTCCCATCTTTGACAAGA	0.443000														49			11		0	0	0.000978159	0	0
SBK2	646643	broad.mit.edu	37	19	56041206	56041206	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:56041206C>T	uc010ygc.2	-	3	956	c.941G>A	c.(940-942)aGg>aAg	p.R314K		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	314	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.R313Q(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						AGCGCTCCTCCTTCGGGGGTG	0.761000														34			7		0	0	0.000157383	0	0
CNTROB	116840	broad.mit.edu	37	17	7843499	7843499	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:7843499G>A	uc002gjp.3	+	9	2200	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	CNTROB_uc002gjq.3_Missense_Mutation_p.G417E|CNTROB_uc002gjr.3_Missense_Mutation_p.G319E|CNTROB_uc010vum.1_Missense_Mutation_p.G129E	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	417	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CGGCTGGAAGGAGAGCTGGAT	0.562000														88			14		0	0	0.000308642	0	0
RP1	6101	broad.mit.edu	37	8	55541857	55541857	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:55541857C>T	uc003xsd.1	+	3	5563	c.5415C>T	c.(5413-5415)ctC>ctT	p.L1805L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1805					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTTCAGAACTCGAGGAACTGA	0.443000														9			8		0	0	0.000442599	0	0
STK36	27148	broad.mit.edu	37	2	219558012	219558013	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:219558012_219558013GG>AA	uc002viu.3	+	16	2372_2373	c.2093_2094GG>AA	c.(2092-2094)agg>aAA	p.R698K	STK36_uc002viv.3_Missense_Mutation_p.R698K	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	698					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGCCAGCTCAGGCCATCCCTCA	0.480000														46			7		0	0	6.4e-05	0	0
LAMB3	3914	broad.mit.edu	37	1	209799263	209799263	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:209799263C>T	uc001hhg.3	-	12	2096	c.1706G>A	c.(1705-1707)cGa>cAa	p.R569Q	LAMB3_uc009xco.3_Missense_Mutation_p.R569Q|LAMB3_uc001hhh.3_Missense_Mutation_p.R569Q|LAMB3_uc010psl.1_Intron|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	569	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACAGTAGCCTCGCTGGCACTG	0.662000														21			5		0	0	0.000602214	0	0
CASD1	64921	broad.mit.edu	37	7	94167139	94167139	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:94167139C>T	uc003uni.4	+	8	1426	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	CASD1_uc003unh.2_3'UTR|CASD1_uc003unj.4_Missense_Mutation_p.S400L	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	400						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TATACACATTCATCTTTCTTT	0.299000														61			13		0	0	0.00185496	0	0
GCOM1	145781	broad.mit.edu	37	15	57924750	57924750	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:57924750C>T	uc002aei.3	+	6	928	c.797C>T	c.(796-798)gCt>gTt	p.A266V	GCOM1_uc002aej.3_Missense_Mutation_p.A266V|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.A266V|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.A266V	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	266					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GAGAAGGAGGCTCTTTTGGTG	0.463000														83			16		0	0	0.00074312	0	0
abParts	0	broad.mit.edu	37	22	22697939	22697939	+	RNA	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr22:22697939G>A	uc021wml.1	+	40		c.4484G>A								Parts of antibodies, mostly variable regions.																		GGGATTGTGGGATCCAAGGGG	0.552000											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			4		0	0	0.00024832	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457763	45457763	+	RNA	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:45457763G>A	uc001rol.3	-	0		c.1432C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TTCACCAACAGCCTGGTACAT	0.453000														45			17		0	0	0.000958276	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39176055	39176055	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:39176055G>A	uc004abi.3	-	6	1201	c.962C>T	c.(961-963)tCg>tTg	p.S321L	CNTNAP3_uc004abj.3_Missense_Mutation_p.S321L|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.S321L|CNTNAP3_uc011lqs.1_Missense_Mutation_p.S321L	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	321	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	p.S321L(2)|p.S321S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAATGCCCGCGATCTTCCGGG	0.378000														53			13		0	0	0.000422831	0	0
MUC16	94025	broad.mit.edu	37	19	9062585	9062585	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:9062585C>T	uc002mkp.3	-	2	25065	c.24861G>A	c.(24859-24861)gaG>gaA	p.E8287E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8289	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGGAAATCCTCTACTAATG	0.522000														38			9		0	0	0.000673444	0	0
SOX1	6656	broad.mit.edu	37	13	112722044	112722044	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:112722044C>T	uc001vsb.1	+	0	132	c.72C>T	c.(70-72)ggC>ggT	p.G24G		NM_005986	NP_005977	O00570	SOX1_HUMAN	Homo sapiens SRY (sex determining region Y)-box 1 (SOX1), mRNA.	24					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		ACCTCTCGGGCCCCGCCGGGG	0.781000														9			6		0	0	8.12818e-05	0	0
PRKCG	5582	broad.mit.edu	37	19	54387439	54387439	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:54387439G>A	uc002qcq.1	+	2	509	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	PRKCG_uc010eqz.1_Missense_Mutation_p.R76Q|PRKCG_uc010yef.1_Missense_Mutation_p.R76Q|PRKCG_uc010yeg.1_Missense_Mutation_p.R76Q|PRKCG_uc010yeh.1_5'UTR	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	76					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GTTCATCGACGATGCCACGAA	0.567000														64			14		0	0	0.000566183	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415599	210415599	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:210415599G>A	uc001hhy.3	+	3	1167	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	SERTAD4_uc009xcw.3_Missense_Mutation_p.E330K	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	330							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CAATGTAAATGAATCTTGGAA	0.403000														51			7		0	0	8.12818e-05	0	0
AFM	173	broad.mit.edu	37	4	74364883	74364883	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:74364883G>A	uc003hhb.3	+	10	1373	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	448	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAAGAACTGGTGTCTCTTGG	0.453000														50			8		0	0	0.000274275	0	0
CDH17	1015	broad.mit.edu	37	8	95186399	95186399	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:95186399G>A	uc003ygh.2	-	5	639	c.514C>T	c.(514-516)Ccc>Tcc	p.P172S	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.P172S	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	172	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTGATCATGGGAAGCTGGATG	0.483000														129			64		0	0	0.000781405	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187836	58187836	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:58187836G>A	uc002qpu.3	+	2	1020	c.323G>A	c.(322-324)tGg>tAg	p.W108*		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	108	SCAN box.				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGAGAAATGGAAATCAAGT	0.423000														43			7		0	0	8.12818e-05	0	0
TRIM67	440730	broad.mit.edu	37	1	231349598	231349598	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:231349598G>C	uc009xfn.1	+	8	2203	c.2161G>C	c.(2161-2163)Gtg>Ctg	p.V721L		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	721	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CACCGTGGGCGTGCTGCTGGA	0.612000														82			13		0	0	0.00185496	0	0
FCER1A	2205	broad.mit.edu	37	1	159277610	159277610	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:159277610G>A	uc001ftq.3	+	5	759	c.662G>A	c.(661-663)gGa>gAa	p.G221E		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	221						integral to plasma membrane		p.T220T(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTGGACACAGGATTATTTATC	0.443000														75			11		0	0	0.000308642	0	0
PRB4	5545	broad.mit.edu	37	12	11461586	11461586	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:11461586G>T	uc001qzf.1	-	2	365	c.331C>A	c.(331-333)Caa>Aaa	p.Q111K	PRB4_uc001qzt.3_Missense_Mutation_p.Q111K	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	153	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGGGTACCTTGGGACTGGTTT	0.612000										HNSCC(22;0.051)				78			6		0.000157383	0.000862413	0.000157383	1	0
ASMTL	8623	broad.mit.edu	37	X	1546836	1546837	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:1546836_1546837GG>AA	uc004cpx.2	-	6	824_825	c.687_688CC>TT	c.(685-690)atcccg>atTTcg	p.P230S	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.P214S|ASMTL_uc011mhe.2_Missense_Mutation_p.P154S|ASMTL_uc011mhf.2_Missense_Mutation_p.P172S	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	230					melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCGCGGCCGGGATGGAGTCGT	0.678000														34			10		0	0	6.4e-05	0	0
KIAA1614	57710	broad.mit.edu	37	1	180904771	180904771	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:180904771C>T	uc001gok.2	+	4	1793	c.1726C>T	c.(1726-1728)Ctg>Ttg	p.L576L	KIAA1614_uc001gol.1_Silent_p.L197L|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	576										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCTGGGTGGCCTGAGCTCCCC	0.697000														19			5		0	0	0.000602214	0	0
STEAP4	79689	broad.mit.edu	37	7	87913481	87913481	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:87913481C>T	uc022agz.1	-	2	327	c.104G>A	c.(103-105)gGa>gAa	p.G35E	STEAP4_uc003ujs.3_Missense_Mutation_p.G35E|STEAP4_uc010lek.3_Missense_Mutation_p.G35E	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	35					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CATTTTCAATCCCAGTGATCT	0.413000														74			13		0	0	0.000219431	0	0
CRTAP	10491	broad.mit.edu	37	3	33171502	33171502	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:33171502C>T	uc003cfl.4	+	3	985	c.865C>T	c.(865-867)Ccg>Tcg	p.P289S	CRTAP_uc010hfz.3_Intron|CRTAP_uc003cfn.3_Missense_Mutation_p.P110S	NM_006371	NP_006362	O75718	CRTAP_HUMAN	Homo sapiens cartilage associated protein (CRTAP), mRNA.	289						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AGGAGGCTATCCGGTTGAGAA	0.383000														83			12		0	0	0.00185496	0	0
GUCY2C	2984	broad.mit.edu	37	12	14774139	14774139	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:14774139G>A	uc001rcd.3	-	22	2750	c.2613C>T	c.(2611-2613)atC>atT	p.I871I		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	871	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACGCATCACCGATGGTTTCCA	0.443000														103			23		0	0	0.001512	0	0
GNB1L	54584	broad.mit.edu	37	22	19808831	19808831	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr22:19808831G>A	uc002zqf.1	-	2	285	c.48C>T	c.(46-48)ctC>ctT	p.L16L		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	16					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GGGTGCCTCGGAGGACAAACT	0.677000														54			27		0	0	0.000339439	0	0
FRMD7	90167	broad.mit.edu	37	X	131212865	131212865	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:131212865C>T	uc004ewn.3	-	11	1358	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	FRMD7_uc022cdy.1_Missense_Mutation_p.E274K|FRMD7_uc011muy.2_Missense_Mutation_p.E379K	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	394					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGGAatgctccagctcagtt	0.483000														77			28		0	0	0.000339439	0	0
ZNF812	729648	broad.mit.edu	37	19	9801638	9801638	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:9801638C>T	uc021uop.1	-	5	1187	c.541G>A	c.(541-543)Gat>Aat	p.D181N	ZNF812_uc010xkx.2_Missense_Mutation_p.D77N	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATGTGATTATCAAGGCTTGCA	0.393000														16			5		0	0	0.00116845	0	0
DNAH8	1769	broad.mit.edu	37	6	38879331	38879331	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:38879331C>T	uc021yzh.1	+	65	9937	c.9828C>T	c.(9826-9828)ttC>ttT	p.F3276F	DNAH8_uc003ooe.2_Silent_p.F3059F|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGTGAAGTTCATTAATGAAC	0.358000														62			7		0	0	0.000274275	0	0
C1orf27	54953	broad.mit.edu	37	1	186375273	186375273	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:186375273C>T	uc021pgj.1	+	10	1078	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	MIR548F1_uc021pgf.1_Intron|C1orf27_uc021pgg.1_Missense_Mutation_p.P353L|C1orf27_uc021pgh.1_Missense_Mutation_p.P330L|C1orf27_uc021pgi.1_Missense_Mutation_p.P321L|C1orf27_uc021pgk.1_Silent_p.S330S|C1orf27_uc021pgl.1_Silent_p.S321S	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	Homo sapiens chromosome 1 open reading frame 27 (C1orf27), transcript variant 1, mRNA.	353						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TTCCTGGATCCACTGTAATGT	0.353000														75			19		0	0	0.00152264	0	0
INTU	27152	broad.mit.edu	37	4	128584647	128584647	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:128584647G>A	uc003ifk.2	+	3	983	c.880G>A	c.(880-882)Gag>Aag	p.E294K	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	294										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTGGGGAGAAGAGGTTGAAGG	0.433000														69			14		0	0	0.000308642	0	0
BMPER	168667	broad.mit.edu	37	7	34118707	34118707	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:34118707C>T	uc011kap.2	+	12	1691	c.1317C>T	c.(1315-1317)cgC>cgT	p.R439R		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	439	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.R439C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCACCGTGCGCTGGAACGGCT	0.662000														41			7		0	0	0.000442599	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382325	41382325	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:41382325C>T	uc003jmm.1	-	1	517	c.415G>A	c.(415-417)Gta>Ata	p.V139I		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	139	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AAGAACACTACCTCCTTATGG	0.418000														92			8		0	0	0.000157383	0	0
RIMS4	140730	broad.mit.edu	37	20	43385568	43385568	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:43385568G>A	uc010ggu.3	-	4	632	c.565C>T	c.(565-567)Cct>Tct	p.P189S	RIMS4_uc002xms.3_Missense_Mutation_p.P188S	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	188	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GGACTCTCAGGAAACAGCAGC	0.552000														152			25		0	0	0.000720815	0	0
WDR33	55339	broad.mit.edu	37	2	128477301	128477302	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:128477301_128477302CC>TT	uc002tpg.2	-	15	2496_2497	c.2297_2298GG>AA	c.(2296-2298)ggg>gAA	p.G766E		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	766	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GACCTTGGATCCCTTGAGACCC	0.619000														36			6		0	0	6.4e-05	0	0
WFS1	7466	broad.mit.edu	37	4	6296781	6296781	+	Silent	SNP	C	T	T	rs71524381		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:6296781C>T	uc003giy.3	+	6	892	c.726C>T	c.(724-726)atC>atT	p.I242I	WFS1_uc003gix.3_Silent_p.I242I|WFS1_uc003giz.3_Silent_p.I60I	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	242					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGAACTACATCGCGCTGGATG	0.592000														153			38		0	0	0.00148497	0	0
PLCL2	23228	broad.mit.edu	37	3	17109538	17109538	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:17109538G>A	uc011awc.2	+	5	3257	c.3161G>A	c.(3160-3162)tGg>tAg	p.W1054*	PLCL2_uc011awd.2_Nonsense_Mutation_p.W936*	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	1062					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGCTTTACCTGGAATATTACC	0.403000														72			15		0	0	0.000958276	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28217580	28217580	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:28217580G>A	uc003nks.1	-	1	700	c.456C>T	c.(454-456)ctC>ctT	p.L152L	ZKSCAN4_uc011dlb.1_5'UTR	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	152					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCTTGCAACAGAGCAGTTCTT	0.453000														153			13		0	0	0.00185496	0	0
ASH1L	55870	broad.mit.edu	37	1	155450538	155450538	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:155450538G>A	uc009wqq.3	-	2	2603	c.2123C>T	c.(2122-2124)cCa>cTa	p.P708L	ASH1L_uc001fkt.3_Missense_Mutation_p.P708L|ASH1L_uc009wqr.1_Missense_Mutation_p.P708L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	708					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.K707E(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTTTTAATGGTTTGGACTG	0.398000														46			12		0	0	0.00136819	0	0
PDE8B	8622	broad.mit.edu	37	5	76645267	76645267	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:76645267G>A	uc003kfa.3	+	7	945	c.900G>A	c.(898-900)agG>agA	p.R300R	PDE8B_uc003kfd.3_Intron|PDE8B_uc003kfe.3_Intron|PDE8B_uc003kfb.3_Silent_p.R280R|PDE8B_uc003kfc.3_Silent_p.R300R	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	300	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCTTCGAAAGGATGATGGGCT	0.498000														187			33		0	0	0.00058488	0	0
TOP2A	7153	broad.mit.edu	37	17	38568043	38568043	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:38568043T>C	uc002huq.3	-	7	976	c.817A>G	c.(817-819)Atg>Gtg	p.M273V	TOP2A_uc002hur.1_5'Flank	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	273					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTCAAATACATGTCCACATAA	0.333000														40			10		0	0	0.000219431	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31974467	31974467	+	Missense_Mutation	SNP	A	T	T	rs147487168	by1000genomes	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:31974467A>T	uc021yve.1	+	1	1002	c.440A>T	c.(439-441)aAc>aTc	p.N147I				Q5ST44	Q5ST44_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA.	143							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										TGCAGCATCAACTGTTACCTC	0.587000														212			11		0	0	0.000673444	0	0
GRM6	2916	broad.mit.edu	37	5	178410107	178410107	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:178410107G>A	uc003mjr.3	-	8	2419	c.2240C>T	c.(2239-2241)tCg>tTg	p.S747L	GRM6_uc003mjq.3_Missense_Mutation_p.S150L	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	747					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGACAGATCCGACATGTCGCA	0.642000														38			20		0	0	0.00121646	0	0
ZNF658	26149	broad.mit.edu	37	9	40772826	40772826	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:40772826G>A	uc004abs.2	-	4	2601	c.2449C>T	c.(2449-2451)Caa>Taa	p.Q817*	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Nonsense_Mutation_p.Q817*	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGAATTCTTTGATGCACTATG	0.423000														48			15		0	0	0.00121646	0	0
VAV1	7409	broad.mit.edu	37	19	6854016	6854016	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:6854016C>T	uc002mfu.1	+	25	2488	c.2391C>T	c.(2389-2391)gaC>gaT	p.D797D	VAV1_uc010xjh.1_Silent_p.D765D|VAV1_uc010dva.1_Silent_p.D775D|VAV1_uc002mfv.1_Silent_p.D742D	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	797	SH3 2.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCGCCCGAGACCGATCAGAGC	0.552000														60			10		0	0	0.00136819	0	0
CRHR1	1394	broad.mit.edu	37	17	43911143	43911143	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:43911143C>T	uc010dap.3	+	11	1345	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	CRHR1_uc010wjx.2_Silent_p.F156F|CRHR1_uc002ijp.3_Intron|CRHR1_uc002ijm.3_Silent_p.F331F|CRHR1_uc002ijn.3_Silent_p.F291F|CRHR1_uc010dar.3_Silent_p.F331F|CRHR1_uc010dao.3_Silent_p.F230F|CRHR1_uc010daq.3_Silent_p.F156F|CRHR1_uc021tyu.1_Silent_p.F156F	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	360					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TGCTGTTCTTCGTCAATCCCG	0.607000														58			6		0	0	8.12818e-05	0	0
COL6A3	1293	broad.mit.edu	37	2	238249361	238249361	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:238249361G>A	uc002vwl.2	-	37	8483	c.8198C>T	c.(8197-8199)cCa>cTa	p.P2733L	COL6A3_uc002vwo.2_Missense_Mutation_p.P2527L|COL6A3_uc010znj.1_Missense_Mutation_p.P2126L|COL6A3_uc002vwj.2_Missense_Mutation_p.P114L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2733	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGGTCCCGTGGGTTTGGGGC	0.567000														60			33		0	0	0.000692331	0	0
CLCN6	1185	broad.mit.edu	37	1	11884605	11884605	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:11884605C>T	uc001ate.4	+	7	756	c.643C>T	c.(643-645)Cct>Tct	p.P215S	CLCN6_uc009vnf.1_Missense_Mutation_p.P215S|CLCN6_uc009vng.1_Missense_Mutation_p.P215S|CLCN6_uc009vnh.1_Missense_Mutation_p.P215S|CLCN6_uc010oat.2_5'UTR|CLCN6_uc010oau.2_Missense_Mutation_p.P193S	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	215					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTGGCCTCCCTCAGGTAAG	0.587000														22			11		0	0	0.00185496	0	0
COL4A1	1282	broad.mit.edu	37	13	110850885	110850885	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:110850885C>T	uc001vqw.4	-	20	1336	c.1214G>A	c.(1213-1215)gGa>gAa	p.G405E		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	405	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCCACTTGGTCCTGGCAGAGA	0.592000														50			14		0	0	0.000566183	0	0
C1orf127	148345	broad.mit.edu	37	1	11008189	11008189	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:11008189G>A	uc010oao.2	-	11	2003	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F	C1orf127_uc001ars.2_Missense_Mutation_p.S503F|C1orf127_uc001arr.2_Missense_Mutation_p.S511F	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	519										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACTTGGGGTGGAGAATGTGGC	0.642000														26			21		0	0	0.00152264	0	0
SERPINB11	89778	broad.mit.edu	37	18	61383338	61383338	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:61383338G>A	uc002ljk.4	+	5	595	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	SERPINB11_uc010xes.2_Intron|SERPINB11_uc010dqd.3_Missense_Mutation_p.E29K|SERPINB11_uc002ljj.4_Missense_Mutation_p.E29K|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	143					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.T142R(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				ACAGTCTACAGAAGAAACGAG	0.338000														43			5		0	0	8.12818e-05	0	0
DEFB124	245937	broad.mit.edu	37	20	30053465	30053465	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:30053465C>T	uc002wvz.1	-	2	59	c.59_splice	c.e2-1	p.G20_splice		NM_001037500	NP_001032589	Q8NES8	DB124_HUMAN	Homo sapiens defensin, beta 124 (DEFB124), mRNA.	20					defense response to bacterium	extracellular region						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTCACTTCTCCCTAAACAGA	0.517000														49			8		0	0	0.000157383	0	0
SLC9C1	285335	broad.mit.edu	37	3	111888124	111888124	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:111888124G>A	uc003dyu.3	-	23	3193	c.2971C>T	c.(2971-2973)Cct>Tct	p.P991S	SLC9C1_uc011bhu.2_Missense_Mutation_p.P254S|SLC9C1_uc010hqc.3_Missense_Mutation_p.P943S	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	991					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTAATGAGAGGAGAGCATTGC	0.338000														65			10		0	0	0.000442599	0	0
PCDH10	57575	broad.mit.edu	37	4	134071430	134071430	+	Silent	SNP	T	C	C	rs75753256	by1000genomes	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:134071430T>C	uc003iha.3	+	0	961	c.135T>C	c.(133-135)atT>atC	p.I45I	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Silent_p.I45I	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	45	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTCTGGACATTACAAAACTTT	0.522000														92			17		0	0	0.00152264	0	0
ABCA10	10349	broad.mit.edu	37	17	67190038	67190038	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:67190038G>A	uc010dfa.1	-	13	2317	c.1438C>T	c.(1438-1440)Caa>Taa	p.Q480*	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Nonsense_Mutation_p.Q81*	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	480	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAGTCAAATTGAAAATTGAAC	0.343000														162			19		0	0	0.000958276	0	0
OR52E2	119678	broad.mit.edu	37	11	5080058	5080058	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:5080058C>T	uc010qyw.2	-	0	800	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGGCACATTTCGGCCAAAGCG	0.478000														86			12		0	0	0.00136819	0	0
ANO2	57101	broad.mit.edu	37	12	5915235	5915235	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:5915235C>T	uc001qnm.2	-	8	1033	c.961G>A	c.(961-963)Gat>Aat	p.D321N		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	326						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TCATTCATATCGTCCTCTGGA	0.478000														48			11		0	0	0.00185496	0	0
IKBKE	9641	broad.mit.edu	37	1	206666707	206666707	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:206666707C>T	uc001hdz.2	+	19	2619	c.2041C>T	c.(2041-2043)Ctc>Ttc	p.L681F	IKBKE_uc001hea.2_Missense_Mutation_p.L596F|IKBKE_uc009xbv.2_Intron	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	681					DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGACCTGCTTCTCCAGTAAGT	0.582000														35			7		0	0	0.000157383	0	0
IL10RA	3587	broad.mit.edu	37	11	117870008	117870008	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:117870008G>A	uc001prv.3	+	6	1466	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	IL10RA_uc010rxl.2_Silent_p.L443L|IL10RA_uc010rxm.2_Silent_p.L443L|IL10RA_uc010rxn.2_Silent_p.L314L|IL10RA_uc001prw.3_Silent_p.L314L	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	463						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CAGGCTGCCTGGAGGAAGAAT	0.582000														44			13		0	0	0.000219431	0	0
CRMP1	1400	broad.mit.edu	37	4	5837688	5837688	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:5837688C>T	uc003gis.3	-	10	1666	c.1577G>A	c.(1576-1578)tGg>tAg	p.W526*	CRMP1_uc003giq.3_Nonsense_Mutation_p.W412*|CRMP1_uc003gir.3_Nonsense_Mutation_p.W407*	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	412					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GTCGGGGTCCCAGATGACCAC	0.507000														84			13		0	0	0.00136819	0	0
PCLO	27445	broad.mit.edu	37	7	82544610	82544610	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:82544610G>A	uc003uhx.2	-	6	12981	c.12692C>T	c.(12691-12693)tCc>tTc	p.S4231F	PCLO_uc003uhv.2_Missense_Mutation_p.S4231F|PCLO_uc010lec.3_Missense_Mutation_p.S1196F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4162	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4231F(1)		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						TGCCCTGGAGGAAATGCCACC	0.388000														44			6		0	0	0.000157383	0	0
ALDH3A2	224	broad.mit.edu	37	17	19575037	19575037	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:19575037C>T	uc002gwa.1	+	8	1432	c.1211C>T	c.(1210-1212)tCc>tTc	p.S404F	ALDH3A2_uc002gwb.1_Missense_Mutation_p.S404F|ALDH3A2_uc010cqr.1_Missense_Mutation_p.S211F|ALDH3A2_uc002gwd.1_Missense_Mutation_p.S211F	NM_001031806	NP_001026976	P51648	AL3A2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A2 (ALDH3A2), transcript variant 1, mRNA.	404					cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	ATTTCAGGTTCCAGTGGGATG	0.413000														74			17		0	0	0.000958276	0	0
DNAH1	25981	broad.mit.edu	37	3	52380497	52380497	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:52380497T>C	uc011bef.2	+	10	1927	c.1666T>C	c.(1666-1668)Ttc>Ctc	p.F556L	DNAH1_uc003ddt.1_Missense_Mutation_p.F556L	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	556	Stem (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)		GGTGCAGATGTTCCTCAAGGA	0.587000														10			4		0	0	0.000602214	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170939	207170939	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:207170939C>T	uc002vbp.2	+	4	1937	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	563							nucleic acid binding|zinc ion binding	p.R563W(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAAAACTTCGGAAGAAGGC	0.438000														35			5		0	0	0.000602214	0	0
FAM59A	64762	broad.mit.edu	37	18	29850274	29850274	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:29850274G>A	uc002kxl.3	-	4	1695	c.1639C>T	c.(1639-1641)Ccc>Tcc	p.P547S	FAM59A_uc002kxk.2_Missense_Mutation_p.P547S	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	547	Pro-rich.									endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						GGGATGGAGGGACTGGTGGAC	0.572000														21			5		0	0	0.000602214	0	0
EVC	2121	broad.mit.edu	37	4	5743514	5743514	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:5743514C>T	uc003gil.1	+	5	958	c.774C>T	c.(772-774)taC>taT	p.Y258Y	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	258			Y -> H (in dbSNP:rs6414624).		muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGAACTATACCAGAAGATCC	0.284000														68			7		0	0	0.000274275	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147314	26147314	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:26147314G>A	uc002dof.3	+	1	1508	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	372					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CCAAAGTACAGGATTTTCTAG	0.502000														58			9		0	0	0.000442599	0	0
OR51V1	283111	broad.mit.edu	37	11	5221720	5221720	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:5221720A>C	uc010qyz.2	-	0	211	c.211T>G	c.(211-213)Ttc>Gtc	p.F71V		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGACAGGAAGTAAAACATA	0.532000														65			12		0	0	0.00185496	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19428940	19428940	+	RNA	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:19428940C>T	uc010tcj.1	-	0		c.17170G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		ATTGACTATTCTGTTTTCCTT	0.398000														79			32		0	0	0.000491102	0	0
PCNXL2	80003	broad.mit.edu	37	1	233150453	233150453	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:233150453C>T	uc001hvl.2	-	27	5145	c.4910G>A	c.(4909-4911)gGg>gAg	p.G1637E	PCNXL2_uc001hvk.1_Missense_Mutation_p.G289E|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1637						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGCTCTCCTCCCCAGGGTGCA	0.537000														58			10		0	0	0.00185496	0	0
RAPH1	65059	broad.mit.edu	37	2	204305977	204305977	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:204305977G>C	uc002vad.3	-	13	2161	c.1936C>G	c.(1936-1938)Cct>Gct	p.P646A		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	646					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						agtgggggaggagggggtggt	0.602000														16			3		0	0	0.000602214	0	0
GUCY2C	2984	broad.mit.edu	37	12	14827622	14827622	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:14827622C>T	uc001rcd.3	-	7	1158	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	GUCY2C_uc009zhz.2_Missense_Mutation_p.E341K	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	341					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCTCCATTTTCAAGAAATATC	0.358000														101			24		0	0	0.00047179	0	0
NCAPG	64151	broad.mit.edu	37	4	17814690	17814690	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:17814690C>T	uc003gpp.3	+	2	642	c.466C>T	c.(466-468)Cca>Tca	p.P156S	NCAPG_uc011bxj.2_5'UTR|DCAF16_uc003gpn.3_5'Flank	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	156					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AGATAAGATTCCAAATGTGAG	0.378000														54			15		0	0	0.000308642	0	0
RIMS2	9699	broad.mit.edu	37	8	104709350	104709350	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:104709350G>A	uc003ylp.3	+	1	352	c.213G>A	c.(211-213)caG>caA	p.Q71Q		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	102	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATAAAGAGCAGGTAAAGAAGA	0.388000										HNSCC(12;0.0054)				78			9		0	0	0.000442599	0	0
FBN1	2200	broad.mit.edu	37	15	48703468	48703468	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:48703468C>T	uc001zwx.2	-	65	8730	c.8335G>A	c.(8335-8337)Gaa>Aaa	p.E2779K	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2779					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGAAGGAGTTCTAGGATTCGA	0.413000														92			21		0	0	0.00188189	0	0
OR51B2	79345	broad.mit.edu	37	11	5345034	5345034	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:5345034G>A	uc001mao.1	-	0	549	c.494C>T	c.(493-495)tCa>tTa	p.S165L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGCAATATGAAAATGAAAA	0.403000														56			6		0	0	0.00116845	0	0
GPR137	56834	broad.mit.edu	37	11	64055268	64055269	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:64055268_64055269CC>AT	uc010rni.2	+	4	685_686	c.657_658CC>AT	c.(655-660)tcccat>tcATat	p.H220Y	GPR137_uc010rnj.2_Missense_Mutation_p.H162Y|GPR137_uc001nze.2_Missense_Mutation_p.H162Y|GPR137_uc001nzf.3_Missense_Mutation_p.H162Y|GPR137_uc001nzh.2_Missense_Mutation_p.H162Y|GPR137_uc001nzi.3_Missense_Mutation_p.H162Y|GPR137_uc021qkt.1_Missense_Mutation_p.H162Y	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	162						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTGTGCTCTCCCATCGGCGCCG	0.668000														40			21		0	0	6.4e-05	0	0
CSMD1	64478	broad.mit.edu	37	8	2820894	2820894	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:2820894G>A	uc022aqr.1	-	59	9694	c.9304C>T	c.(9304-9306)Ccg>Tcg	p.P3102S	CSMD1_uc011kwj.2_Missense_Mutation_p.P2432S|CSMD1_uc010lrg.3_Missense_Mutation_p.P994S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3103	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCTGCACCGGCGGCGGCTGA	0.537000														150			54		0	0	0.000781405	0	0
NRP2	8828	broad.mit.edu	37	2	206659641	206659641	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:206659641C>T	uc002vaw.3	+	16	3446	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	NRP2_uc002vax.3_Silent_p.G880G|NRP2_uc002vay.3_Silent_p.G863G	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	885					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCTGTGCAGGCCTCCTGCTCT	0.582000														51			14		0	0	0.000566183	0	0
KCNH6	81033	broad.mit.edu	37	17	61607752	61607752	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:61607752A>T	uc002jay.3	+	3	604	c.524A>T	c.(523-525)tAc>tTc	p.Y175F	KCNH6_uc002jax.1_Missense_Mutation_p.Y175F|KCNH6_uc010wpl.2_Missense_Mutation_p.Y52F|KCNH6_uc010wpm.2_Missense_Mutation_p.Y175F|KCNH6_uc002jaz.1_Missense_Mutation_p.Y175F	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	175					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGGGGCAAGTACAGGACCATC	0.622000														78			12		0	0	0.00136819	0	0
GBP4	115361	broad.mit.edu	37	1	89658754	89658754	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:89658754C>A	uc001dnb.3	-	4	619	c.503G>T	c.(502-504)aGg>aTg	p.R168M		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	168						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GGATTTTGCCCTGATTAGCTC	0.463000														74			13		6.72482e-11	3.7242e-10	0.000308642	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85546805	85546805	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:85546805C>T	uc001tac.3	+	20	4534	c.4423C>T	c.(4423-4425)Cct>Tct	p.P1475S		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1475										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAAAAGATTCCTGGAAACTT	0.284000														81			12		0	0	0.000219431	0	0
BEST3	144453	broad.mit.edu	37	12	70049129	70049129	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:70049129G>A	uc001svg.3	-	9	1792	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.S309F|BEST3_uc010stm.2_Missense_Mutation_p.S416F	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	522						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGAGGTAGCGGAATCATGGTG	0.552000														98			16		0	0	0.00121646	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718198	142718198	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:142718198C>T	uc022cfm.1	-	0	727	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	SLITRK4_uc022cfl.1_Missense_Mutation_p.E243K|SLITRK4_uc004fbx.3_Missense_Mutation_p.E243K|SLITRK4_uc004fby.3_Missense_Mutation_p.E243K	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	243	LRRCT 1.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGAGTTTCACAGATAGCT	0.438000														20			10		0	0	0.000673444	0	0
UBAP2	55833	broad.mit.edu	37	9	33960857	33960857	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:33960857C>T	uc003ztq.1	-	9	878	c.765G>A	c.(763-765)gtG>gtA	p.V255V	UBAP2_uc011loc.1_Silent_p.V164V|UBAP2_uc011lod.1_Nonsense_Mutation_p.W11*|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Silent_p.V180V|UBAP2_uc011log.1_Silent_p.V201V|UBAP2_uc003ztr.2_Silent_p.V127V	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	255										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCCACTCTTCCACAGAATTCT	0.363000														51			13		0	0	0.000219431	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935535	151935535	+	Missense_Mutation	SNP	C	T	T	rs34624093	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:151935535C>T	uc022chl.1	-	0	632	c.632G>A	c.(631-633)aGa>aAa	p.R211K	MAGEA3_uc004fgp.3_Missense_Mutation_p.R211K	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	211	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GTCGCCCTCTCTTGCGATTAT	0.562000														56			29		0	0	0.00111076	0	0
JMJD1C	221037	broad.mit.edu	37	10	65140161	65140161	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:65140161C>T	uc001jmn.3	-	1	550	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	JMJD1C_uc009xpi.3_5'UTR|JMJD1C_uc001jmr.1_Missense_Mutation_p.E84K	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	84					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAGTGGTATTCCACCAAGAAA	0.393000														64			10		0	0	0.000673444	0	0
OR10G2	26534	broad.mit.edu	37	14	22102951	22102951	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:22102951G>A	uc010tmc.2	-	0	48	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCAGAAGAATGAAATCTGTCA	0.458000														110			18		0	0	0.00152264	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5956313	5956313	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:5956313G>A	uc002kmz.4	-	19	1938	c.1778C>T	c.(1777-1779)cCa>cTa	p.P593L	L3MBTL4_uc002kmy.4_Missense_Mutation_p.P584L|L3MBTL4_uc010dkt.3_Missense_Mutation_p.P593L	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	593	SAM.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CTTCAGTGCTGGGCCCAGTTT	0.458000														132			40		0	0	0.000509022	0	0
SERPINI2	5276	broad.mit.edu	37	3	167164259	167164259	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:167164259G>A	uc003fes.1	-	7	1163	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	SERPINI2_uc003fer.1_Silent_p.I354I|SERPINI2_uc003fet.1_Silent_p.I354I	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	354					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TGATCACAGGGATGTGTATGC	0.303000														137			25		0	0	0.00106085	0	0
ANXA10	11199	broad.mit.edu	37	4	169060698	169060698	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:169060698G>A	uc003irm.3	+	2	326	c.162G>A	c.(160-162)atG>atA	p.M54I		NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	54							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AAAGGATGATGATTGCAGAGG	0.418000														35			11		0	0	0.00136819	0	0
DZIP1L	199221	broad.mit.edu	37	3	137787163	137787164	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:137787163_137787164CT>TC	uc003erq.3	-	12	2024_2025	c.1661_1662AG>GA	c.(1660-1662)aag>aGA	p.K554R		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	554						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGGTCCTGGTCTTTGGCTGGGC	0.584000											OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		289			52		0	0	6.4e-05	0	0
OR13C4	138804	broad.mit.edu	37	9	107289416	107289416	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:107289416G>A	uc011lvn.2	-	0	75	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CAAAGAAAATGATCTCAAGTT	0.418000														29			7		0	0	8.12818e-05	0	0
ADAM19	8728	broad.mit.edu	37	5	156920179	156920179	+	Silent	SNP	C	T	T	rs143295058	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:156920179C>T	uc003lwz.3	-	15	1789	c.1710G>A	c.(1708-1710)gcG>gcA	p.A570A	ADAM19_uc003lww.2_Silent_p.A303A|ADAM19_uc003lwy.3_Silent_p.A169A|ADAM19_uc011ddr.1_Silent_p.A501A	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	570	Cys-rich.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCACACTTCGCATCTCTGG	0.562000														40			19		0	0	0.00188189	0	0
LYG2	254773	broad.mit.edu	37	2	99861920	99861920	+	Splice_Site	SNP	C	T	T	rs142190861	by1000genomes	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:99861920C>T	uc002szw.1	-	4	298	c.185_splice	c.e4-1	p.G62_splice	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Splice_Site_p.G62_splice|LYG2_uc002szx.1_Splice_Site_p.G62_splice	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	62					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						AACCACGGATCCCTACGTCAA	0.478000														40			7		0	0	0.000157383	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597125	136597125	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:136597125G>A	uc003qgx.1	-	4	1791	c.1538C>T	c.(1537-1539)cCc>cTc	p.P513L	BCLAF1_uc003qgy.1_Missense_Mutation_p.P511L|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.P511L|BCLAF1_uc003qgw.1_Missense_Mutation_p.P340L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	513					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTGTAGAGGGGGACTGTAATC	0.413000														206			17		0	0	0.00121646	0	0
BCMO1	53630	broad.mit.edu	37	16	81303860	81303860	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:81303860G>A	uc002fgn.1	+	6	1158	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	BCMO1_uc010vnp.1_Missense_Mutation_p.E245K	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	314					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CAACGCCTACGAAGAGGACGG	0.522000														65			14		0	0	0.00185496	0	0
SI	6476	broad.mit.edu	37	3	164777010	164777010	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:164777010G>A	uc003fei.3	-	10	1287	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	408	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAAATTGAGGGAGTCCGTTAA	0.338000										HNSCC(35;0.089)				49			10		0	0	0.000442599	0	0
GNAT3	346562	broad.mit.edu	37	7	80108245	80108245	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:80108245C>T	uc011kgu.2	-	3	373	c.373G>A	c.(373-375)Gag>Aag	p.E125K	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	125					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTTATTACCTCAGCCAGTTGA	0.438000														123			27		0	0	0.001512	0	0
HERC2	8924	broad.mit.edu	37	15	28474839	28474839	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:28474839C>T	uc001zbj.3	-	31	5070	c.4964G>A	c.(4963-4965)aGa>aAa	p.R1655K		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1655					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TAGGCACTTTCTCATTTTTTC	0.393000														245			45		0	0	0.000680045	0	0
ASTN2	23245	broad.mit.edu	37	9	119568093	119568093	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:119568093C>T	uc004bjt.2	-	11	2162	c.2061G>A	c.(2059-2061)gtG>gtA	p.V687V	ASTN2_uc022bml.1_Silent_p.V383V|ASTN2_uc022bmm.1_Silent_p.V387V	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	738	EGF-like 2.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGTACTCCTCCACGCAACTGT	0.478000														92			20		0	0	0.00121646	0	0
PDZD2	23037	broad.mit.edu	37	5	32091217	32091217	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:32091217A>G	uc003jhl.3	+	19	8051	c.7663A>G	c.(7663-7665)Agt>Ggt	p.S2555G	PDZD2_uc003jhm.3_Missense_Mutation_p.S2555G	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2555					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAGACACCCAGTTCAGCCAG	0.537000														37			9		0	0	0.000442599	0	0
AOAH	313	broad.mit.edu	37	7	36657927	36657927	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:36657927G>A	uc022abu.1	-	9	1128	c.727C>T	c.(727-729)Cca>Tca	p.P243S	AOAH_uc003tfh.4_Missense_Mutation_p.P243S|AOAH_uc011kba.2_Missense_Mutation_p.P211S	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	243					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTCTCATATGGAACTCCATCT	0.323000														64			13		0	0	0.000422831	0	0
OR10H5	284433	broad.mit.edu	37	19	15905071	15905071	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:15905071C>T	uc010xos.2	+	0	213	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCACCGAGATCCTCTACACCG	0.622000														54			11		0	0	0.00136819	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572250	140572250	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:140572250G>A	uc003lix.3	+	0	299	c.125G>A	c.(124-126)gGa>gAa	p.G42E		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	42	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGAAAGGATCCTTTGTG	0.493000														56			36		0	0	0.000437636	0	0
ASTN1	460	broad.mit.edu	37	1	176833657	176833657	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:176833657C>T	uc001glc.3	-	23	3860	c.3648_splice	c.e23-1	p.R1216_splice	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1224					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GACCAGCTTTCCTATGGATCA	0.488000														40			10		0	0	0.000673444	0	0
DSG3	1830	broad.mit.edu	37	18	29040811	29040811	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:29040811C>T	uc002kws.3	+	6	809	c.700C>T	c.(700-702)Cgt>Tgt	p.R234C		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	234	Cadherin 2.				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)			TAGCAGCTATCGTCTGGTTGT	0.338000														45			6		0	0	0.000442599	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255358	140255358	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:140255358G>A	uc003lic.2	+	0	428	c.301G>A	c.(301-303)Gag>Aag	p.E101K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.E101K	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	116	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGCGCGGAGTGCAGTAT	0.562000														182			20		0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9061972	9061972	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:9061972C>T	uc002mkp.3	-	2	25678	c.25474G>A	c.(25474-25476)Gaa>Aaa	p.E8492K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8494	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGCACTTTCTGCTGATTCT	0.498000														126			29		0	0	0.000692331	0	0
PAX7	5081	broad.mit.edu	37	1	19062399	19062399	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:19062399C>T	uc001bay.3	+	7	2027	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	PAX7_uc001baz.3_Missense_Mutation_p.P475S|PAX7_uc010oct.2_Intron	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	477					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTGGGCGTCCCCCGTCCCCAT	0.622000			T	FOXO1A	alveolar rhabdomyosarcoma									23			7		0	0	8.12818e-05	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111926203	111926204	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:111926203_111926204CC>TT	uc001vrs.2	+	10	1429_1430	c.1179_1180CC>TT	c.(1177-1182)agccct>agTTct	p.P394S	ARHGEF7_uc001vrr.2_Missense_Mutation_p.P373S|ARHGEF7_uc001vrt.2_Missense_Mutation_p.P344S|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vrv.4_Missense_Mutation_p.P216S|ARHGEF7_uc001vrw.4_Missense_Mutation_p.P216S|ARHGEF7_uc001vrx.4_Missense_Mutation_p.P216S|ARHGEF7_uc010tjo.2_Missense_Mutation_p.P291S|ARHGEF7_uc010tjp.1_Missense_Mutation_p.P138S|ARHGEF7_uc010agn.1_Missense_Mutation_p.P138S	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	394	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTGCCAGCAGCCCTGGGATTCT	0.554000														45			16		0	0	6.4e-05	0	0
GATA3	2625	broad.mit.edu	37	10	8100409	8100409	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:8100409G>A	uc001ijz.3	+	2	940	c.383G>A	c.(382-384)gGg>gAg	p.G128E	GATA3_uc001ika.3_Missense_Mutation_p.G128E	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	128					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding	p.P127P(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GGCTCCCCGGGGCCCCTCTCC	0.721000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							53			10		0	0	0.000978159	0	0
MYBPC3	4607	broad.mit.edu	37	11	47356606	47356606	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:47356606C>T	uc021qis.1	-	26	2947	c.2892G>A	c.(2890-2892)gtG>gtA	p.V964V	MYBPC3_uc021qir.1_Silent_p.V616V	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	963					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGATCTCCTGCACTGTCACCG	0.647000														11			7		0	0	0.000442599	0	0
SF3B3	23450	broad.mit.edu	37	16	70599046	70599046	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:70599046C>T	uc002ezf.3	+	18	2753	c.2542C>T	c.(2542-2544)Cct>Tct	p.P848S		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	848					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGAAAACCTCCCTGAATCCAT	0.532000														48			15		0	0	0.000308642	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316570	39316570	+	Missense_Mutation	SNP	T	C	C	rs111563615		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:39316570T>C	uc002hwc.3	-	0	414	c.374A>G	c.(373-375)tAc>tGc	p.Y125C		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA.	125	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament		p.Y125*(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGACACACAGTAGCTGGGGCA	0.667000														49			5		0	0	0.000602214	0	0
OTOP1	133060	broad.mit.edu	37	4	4199349	4199349	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:4199349G>A	uc003ghp.1	-	4	1242	c.1212C>T	c.(1210-1212)atC>atT	p.I404I		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	404					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCCCCAGGAGATAAGCCAGG	0.577000														46			11		0	0	0.00136819	0	0
ADORA2A	135	broad.mit.edu	37	22	24837156	24837156	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr22:24837156C>T	uc002zzx.3	+	4	1701	c.938C>T	c.(937-939)cCt>cTt	p.P313L	SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Missense_Mutation_p.P313L|ADORA2A_uc011ajs.2_Missense_Mutation_p.P174L|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guq.3_Missense_Mutation_p.P313L|ADORA2A_uc010gup.3_Missense_Mutation_p.P313L|ADORA2A_uc003aab.3_Missense_Mutation_p.P313L|C22orf45_uc003aad.1_Intron	NM_000675	NP_000666	P29274	AA2AR_HUMAN	Homo sapiens adenosine A2a receptor (ADORA2A), mRNA.	313					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CAGCAAGAACCTTTCAAGGCA	0.602000														24			10		0	0	0.000673444	0	0
HTR6	3362	broad.mit.edu	37	1	19992783	19992783	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:19992783G>A	uc001bcl.3	+	0	1004	c.537G>A	c.(535-537)caG>caA	p.Q179Q		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	179					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TCCCTGGCCAGTGCCGCCTGC	0.687000														42			23		0	0	0.00047179	0	0
ODZ3	55714	broad.mit.edu	37	4	183717907	183717907	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:183717907G>A	uc003ivd.1	+	25	7406	c.7331G>A	c.(7330-7332)tGg>tAg	p.W2444*		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2444					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGTCAGCAGTGGGATGATATA	0.398000														23			5		0	0	0.000602214	0	0
DNAH5	1767	broad.mit.edu	37	5	13714522	13714522	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:13714522G>A	uc003jfd.2	-	74	13159	c.13117C>T	c.(13117-13119)Ccc>Tcc	p.P4373S	DNAH5_uc003jfc.2_Missense_Mutation_p.P541S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4373					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P4373P(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACTTCAAAGGGGACATAGTCT	0.537000									Kartagener syndrome					88			11		0	0	0.00136819	0	0
ZNF329	79673	broad.mit.edu	37	19	58640350	58640350	+	Missense_Mutation	SNP	G	A	A	rs147789299		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:58640350G>A	uc002qrn.3	-	3	758	c.521C>T	c.(520-522)tCg>tTg	p.S174L	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.S174L	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S174S(1)		NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		ACCTTCATACGATTTCTTGCC	0.363000														46			13		0	0	0.00185496	0	0
SNX11	29916	broad.mit.edu	37	17	46196339	46196339	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:46196339C>T	uc002inf.1	+	6	684	c.330C>T	c.(328-330)gtC>gtT	p.V110V	SNX11_uc010wlg.1_Silent_p.V102V|SNX11_uc002ing.1_Silent_p.V110V|SNX11_uc010wlh.1_Silent_p.V102V|SNX11_uc010wli.1_Silent_p.V49V|SNX11_uc010wlj.1_5'UTR|SNX11_uc002inh.1_Silent_p.V110V	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA.	110	PX.				cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						TTCCCAGGGTCCTGCAGAGTG	0.542000														78			16		0	0	0.000566183	0	0
TDRD1	56165	broad.mit.edu	37	10	115985825	115985825	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:115985825C>T	uc001lbg.1	+	21	3178	c.3025C>T	c.(3025-3027)Cgt>Tgt	p.R1009C	TDRD1_uc001lbf.3_Missense_Mutation_p.R886C|TDRD1_uc001lbh.1_Missense_Mutation_p.R996C|TDRD1_uc001lbi.1_Missense_Mutation_p.R1000C|TDRD1_uc010qsc.2_Missense_Mutation_p.R613C|TDRD1_uc001lbj.3_Missense_Mutation_p.R718C	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	1009	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTTTTGGTATCGTGCAGTTGT	0.403000														69			12		0	0	0.000422831	0	0
ABCB11	8647	broad.mit.edu	37	2	169869860	169869860	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:169869860C>T	uc002ueo.1	-	4	437	c.311G>A	c.(310-312)gGa>gAa	p.G104E		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	104	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACATGCTTTTCCTGGAATCTG	0.413000														198			72		0	0	0.000781405	0	0
CLRN2	645104	broad.mit.edu	37	4	17524602	17524602	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:17524602G>A	uc003gpg.1	+	1	471	c.369G>A	c.(367-369)atG>atA	p.M123I		NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN	Homo sapiens clarin 2 (CLRN2), mRNA.	123						integral to membrane		p.M140I(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTCTTAACATGATCCAGGTCC	0.552000														42			8		0	0	0.000274275	0	0
PRMT3	10196	broad.mit.edu	37	11	20483679	20483679	+	Missense_Mutation	SNP	C	T	T	rs142036289		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:20483679C>T	uc001mqb.3	+	11	1443	c.1226C>T	c.(1225-1227)cCg>cTg	p.P409L	PRMT3_uc001mqc.3_Missense_Mutation_p.P332L|PRMT3_uc010rdn.2_Missense_Mutation_p.P347L	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	409							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GTTTTAGATCCGAAGACTCTT	0.348000														139			23		0	0	0.00127121	0	0
OR13F1	138805	broad.mit.edu	37	9	107266793	107266793	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:107266793A>C	uc011lvm.2	+	0	250	c.250A>C	c.(250-252)Aac>Cac	p.N84H		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATGCTGGCAAACTTTGTTTC	0.517000														79			17		0	0	0.00074312	0	0
CNTN4	152330	broad.mit.edu	37	3	2928779	2928779	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:2928779G>A	uc003bpc.3	+	9	1150	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.A271T|CNTN4_uc003bpd.1_Missense_Mutation_p.A271T	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	271	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.P271S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGCAAGGAAAGCCAGAAGACA	0.393000														23			6		0	0	0.00116845	0	0
OR52K2	119774	broad.mit.edu	37	11	4471175	4471175	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:4471175C>T	uc001lyz.2	+	0	651	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTATGGCATCGCTGTGGCCA	0.512000														124			52		0	0	0.000781405	0	0
RNASET2	8635	broad.mit.edu	37	6	167343198	167343198	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:167343198C>T	uc003qve.3	-	8	1056	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	RNASET2_uc003qvf.3_Missense_Mutation_p.G125R	NM_003730	NP_003721	O00584	RNT2_HUMAN	Homo sapiens ribonuclease T2 (RNASET2), mRNA.	217					RNA catabolic process	extracellular region	RNA binding|ribonuclease T2 activity			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		GGCTGCTCCCCCGGCTCGGTG	0.552000														115			27		0	0	0.001512	0	0
C11orf82	220042	broad.mit.edu	37	11	82641291	82641291	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:82641291G>A	uc001ozt.3	+	4	612	c.368G>A	c.(367-369)gGa>gAa	p.G123E	C11orf82_uc010rsr.2_Intron|C11orf82_uc010rss.2_Intron|C11orf82_uc009yvd.2_Missense_Mutation_p.G123E	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	123					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGCTTTGTTGGACAAAGCTTT	0.303000														53			7		0	0	0.000442599	0	0
CDH17	1015	broad.mit.edu	37	8	95178008	95178008	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:95178008C>T	uc003ygh.2	-	9	1388	c.1263G>A	c.(1261-1263)acG>acA	p.T421T	CDH17_uc011lgo.1_Silent_p.T207T|CDH17_uc011lgp.1_Silent_p.T421T	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	421	Cadherin 4.					integral to membrane	calcium ion binding	p.T421T(2)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACACCTCTATCGTTAAGTTGT	0.408000														67			19		0	0	0.00121646	0	0
STRA6	64220	broad.mit.edu	37	15	74487809	74487809	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:74487809C>T	uc002axj.3	-	7	908	c.548_splice	c.e7-1	p.G183_splice	STRA6_uc002axi.3_Intron|STRA6_uc010ulh.2_Splice_Site_p.G182_splice|STRA6_uc002axk.3_Splice_Site_p.G144_splice|STRA6_uc002axl.3_Splice_Site_p.G76_splice|STRA6_uc010bji.3_Splice_Site_p.G144_splice|STRA6_uc021sqg.1_Splice_Site_p.G159_splice|STRA6_uc002axm.3_Splice_Site_p.G144_splice|STRA6_uc002axn.3_Splice_Site_p.G135_splice|STRA6_uc010uli.2_Splice_Site_p.G181_splice|STRA6_uc010bjj.1_Splice_Site|STRA6_uc010bjk.3_3'UTR	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	144					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CTTCCAGGCCCCTGGAAGGTG	0.617000														29			7		0	0	0.000157383	0	0
TOMM70A	9868	broad.mit.edu	37	3	100086908	100086908	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:100086908C>A	uc003dtw.3	-	10	2102	c.1653G>T	c.(1651-1653)atG>atT	p.M551I		NM_014820	NP_055635	O94826	TOM70_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.	551					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CAATAGTTCCCATGGTTTCAT	0.343000														50			10		3.07112e-06	1.69051e-05	0.000978159	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85546093	85546093	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:85546093C>T	uc001tac.3	+	19	4476	c.4365C>T	c.(4363-4365)tcC>tcT	p.S1455S		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1455										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CATTAGATTCCACCCGCTTCC	0.373000														106			26		0	0	0.000409698	0	0
NELL1	4745	broad.mit.edu	37	11	20869159	20869159	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:20869159G>A	uc009yid.3	+	4	603	c.450G>A	c.(448-450)agG>agA	p.R150R	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Silent_p.R122R|NELL1_uc001mqf.3_Silent_p.R122R|NELL1_uc010rdo.2_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	122	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTGGCCTGAGGGATGAGATTC	0.448000														30			12		0	0	0.00185496	0	0
CHST1	8534	broad.mit.edu	37	11	45672376	45672376	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:45672376G>A	uc021qgn.1	-	0	98	c.98C>T	c.(97-99)aCc>aTc	p.T33I	CHST1_uc001mys.2_Missense_Mutation_p.T33I	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	33					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCCGGGGCAGGTGTGAAAGGA	0.647000														80			16		0	0	0.000566183	0	0
STC1	6781	broad.mit.edu	37	8	23708886	23708886	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:23708886C>T	uc003xdw.1	-	2	704	c.420G>A	c.(418-420)cgG>cgA	p.R140R		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	140					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CTTCAGGGTTCCGCTTGGCGA	0.527000														117			43		0	0	0.000781405	0	0
CCR2	729230	broad.mit.edu	37	3	46399345	46399345	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:46399345G>A	uc003cpn.4	+	1	812	c.327G>A	c.(325-327)ggG>ggA	p.G109G	CCR2_uc003cpm.4_Silent_p.G109G|CCR2_uc021wxa.1_Silent_p.G109G	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	109					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GGGTCTTTGGGAATGCAATGT	0.443000														248			58		0	0	0.000781405	0	0
SETD1A	9739	broad.mit.edu	37	16	30976366	30976366	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:30976366C>T	uc002ead.1	+	6	1989	c.1303C>T	c.(1303-1305)Ccg>Tcg	p.P435S		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	435	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding	p.P435Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GGCTCCACCCCCGGAGCCTCC	0.701000														42			5		0	0	0.00116845	0	0
ROBO2	6092	broad.mit.edu	37	3	77600111	77600111	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:77600111T>A	uc011bgk.2	+	8	1857	c.1214T>A	c.(1213-1215)tTa>tAa	p.L405*	ROBO2_uc021xat.1_Nonsense_Mutation_p.L417*|ROBO2_uc003dpy.4_Nonsense_Mutation_p.L401*|ROBO2_uc003dpz.3_Nonsense_Mutation_p.L405*|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	401	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGAAGCATTTTAGCAAAAGCT	0.418000														44			9		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179412371	179412371	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179412371G>A	uc021vsy.1	-	287	86503	c.86278C>T	c.(86278-86280)Ctg>Ttg	p.L28760L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L22455L|TTN_uc021vta.1_Silent_p.L22388L|TTN_uc021vtb.1_Silent_p.L22263L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29687	Fibronectin type-III 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCCATGACAGGACACACGAT	0.468000														105			15		0	0	0.000422831	0	0
OR4L1	122742	broad.mit.edu	37	14	20528840	20528840	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:20528840C>T	uc001vwn.1	+	0	637	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTGTTTCATCCTCTTGCTTGT	0.453000														116			12		0	0	0.000219431	0	0
STARD8	9754	broad.mit.edu	37	X	67937584	67937585	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:67937584_67937585GG>AA	uc004dxb.3	+	5	1042_1043	c.828_829GG>AA	c.(826-831)aaggcc>aaAAcc	p.A277T	STARD8_uc004dxa.3_Missense_Mutation_p.A197T|STARD8_uc004dxc.4_Missense_Mutation_p.A197T	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	197					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATACTCGGAAGGCCTGGGAGGC	0.614000														17			8		0	0	6.4e-05	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17692134	17692134	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:17692134C>T	uc002rcl.1	-	2	3441	c.3417G>A	c.(3415-3417)agG>agA	p.R1139R	RAD51AP2_uc010exn.1_Silent_p.R1130R	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1139	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTGTTTAATCCTTGCTTTTC	0.323000														33			6		0	0	8.12818e-05	0	0
PYGB	5834	broad.mit.edu	37	20	25274902	25274902	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:25274902C>T	uc002wup.3	+	17	2395	c.2286C>T	c.(2284-2286)atC>atT	p.I762I		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	762					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	TCAAGGACATCGTGAACATGC	0.592000											OREG0025844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			12		0	0	0.000308642	0	0
ITGAX	3687	broad.mit.edu	37	16	31373954	31373954	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:31373954C>T	uc002ebt.3	+	11	1306	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	ITGAX_uc002ebu.1_Silent_p.L413L|ITGAX_uc010vfk.1_Silent_p.L63L	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	413					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.A412V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGCTGGCCCTCTGGAAAGGGG	0.672000														10			5		0	0	0.000602214	0	0
STAT3	6774	broad.mit.edu	37	17	40478182	40478182	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:40478182G>A	uc002hzl.1	-	14	1557	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	STAT3_uc002hzk.1_Silent_p.I439I|STAT3_uc002hzm.1_Silent_p.I439I|STAT3_uc010wgh.1_Silent_p.I341I|STAT3_uc002hzn.1_Silent_p.I439I	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	439					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCTCAAAGGTGATCAGGTGCA	0.527000									Hyperimmunoglobulin E Recurrent Infection Syndrome					59			10		0	0	0.000978159	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336619	30336619	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:30336619C>T	uc009xle.2	-	1	260	c.123G>A	c.(121-123)caG>caA	p.Q41Q	KIAA1462_uc001iux.3_Silent_p.Q41Q|KIAA1462_uc001iuy.3_Silent_p.Q41Q|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	41										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTGCAGGCCCTGGCCTGCTC	0.632000														39			7		0	0	0.000157383	0	0
PABPC4	8761	broad.mit.edu	37	1	40036935	40036935	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:40036935C>A	uc001cdl.2	-	2	1372	c.474G>T	c.(472-474)atG>atT	p.M158I	PABPC4_uc010oiv.1_Missense_Mutation_p.M158I|PABPC4_uc001cdm.2_Missense_Mutation_p.M158I	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	158	RRM 2.				RNA catabolic process|RNA processing|blood coagulation|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCATGCCATTCATCTTCTCGA	0.547000														110			49		9.79885e-19	5.45979e-18	0.000781405	1	0
SULF1	23213	broad.mit.edu	37	8	70553060	70553060	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:70553060A>G	uc003xyg.2	+	20	3130	c.2569A>G	c.(2569-2571)Agc>Ggc	p.S857G	SULF1_uc010lza.1_Missense_Mutation_p.S857G|SULF1_uc003xyd.2_Missense_Mutation_p.S857G|SULF1_uc003xye.2_Missense_Mutation_p.S857G|SULF1_uc003xyf.2_Missense_Mutation_p.S857G|SULF1_uc003xyh.1_Non-coding_Transcript|SULF1_uc003xyi.1_Silent_p.E3E|SULF1_uc003xyj.1_Silent_p.E3E	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	857					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGATGGAGGAAGCTATGACCT	0.323000														90			13		0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179442498	179442498	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179442498C>T	uc021vsy.1	-	271	61176	c.60951G>A	c.(60949-60951)tcG>tcA	p.S20317S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S14012S|TTN_uc021vta.1_Silent_p.S13945S|TTN_uc021vtb.1_Silent_p.S13820S|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21244	Fibronectin type-III 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAAGACTTCGAAGGTAGAT	0.393000														98			14		0	0	0.000308642	0	0
ADCY10	55811	broad.mit.edu	37	1	167852768	167852768	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:167852768C>T	uc001ger.3	-	8	1225	c.927G>A	c.(925-927)gaG>gaA	p.E309E	ADCY10_uc010plj.2_Silent_p.E156E|ADCY10_uc009wvk.3_Silent_p.E217E|ADCY10_uc009wvl.3_Silent_p.E308E|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	309	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding	p.E309Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTGGGCCTATCTCTTCTGCTT	0.433000														88			16		0	0	0.00074312	0	0
REN	5972	broad.mit.edu	37	1	204125924	204125924	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:204125924C>T	uc001haq.2	-	7	743	c.699_splice	c.e7-1	p.E233_splice		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	233					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	ATTGGGAATTCCTAAAGGAAA	0.522000														49			7		0	0	0.000157383	0	0
CSMD2	114784	broad.mit.edu	37	1	34006189	34006189	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:34006189G>A	uc001bxm.1	-	59	9744	c.9567C>T	c.(9565-9567)tcC>tcT	p.S3189S	CSMD2_uc001bxn.1_Silent_p.S3045S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3165	Sushi 26.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCGCGGGCAGGGAGAGCTGGT	0.587000														34			21		0	0	0.00188189	0	0
UNC13C	440279	broad.mit.edu	37	15	54590052	54590052	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:54590052G>A	uc021smr.1	+	9	4026	c.4026G>A	c.(4024-4026)ttG>ttA	p.L1342L	UNC13C_uc021sms.1_Silent_p.L1344L|UNC13C_uc002acl.3_Silent_p.L174L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1344					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCATACGATTGAAAATCAATG	0.333000														24			6		0	0	8.12818e-05	0	0
DMXL2	23312	broad.mit.edu	37	15	51749620	51749620	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:51749620G>A	uc010ufy.2	-	35	8404	c.8179C>T	c.(8179-8181)Caa>Taa	p.Q2727*	DMXL2_uc002abd.3_Nonsense_Mutation_p.Q818*|DMXL2_uc002abf.3_Nonsense_Mutation_p.Q2726*|DMXL2_uc010bfa.3_Nonsense_Mutation_p.Q2090*	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2726						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCACTGGGTTGATAAAGAGTT	0.438000														51			14		0	0	0.000422831	0	0
ZNF71	58491	broad.mit.edu	37	19	57132753	57132753	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:57132753C>T	uc002qnm.4	+	2	336	c.98C>T	c.(97-99)cCt>cTt	p.P33L	ZNF71_uc021vcg.1_Missense_Mutation_p.P33L	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	33						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCCAGGGGTCCTGGCTCAGAA	0.587000														27			7		0	0	8.12818e-05	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537045	65537045	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:65537045C>T	uc003xvj.2	-	1	378	c.174G>A	c.(172-174)gtG>gtA	p.V58V		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	58					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.V58V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGTTCAGGACCACTCCAAGAT	0.383000														129			44		0	0	0.000781405	0	0
OR10J5	127385	broad.mit.edu	37	1	159505084	159505084	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:159505084G>A	uc010piw.2	-	0	714	c.714C>T	c.(712-714)gcC>gcT	p.A238A		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGACACAGGTGGCAAAGGTCT	0.478000														43			6		0	0	0.00116845	0	0
HSF2BP	11077	broad.mit.edu	37	21	44949686	44949686	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr21:44949686G>A	uc002zdi.3	-	8	1285	c.953C>T	c.(952-954)aCc>aTc	p.T318I	HSF2BP_uc011aey.2_Missense_Mutation_p.T243I	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	318					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTGGGCTGCGGTTTGCAGGCG	0.597000														48			11		0	0	0.00136819	0	0
KRBA2	124751	broad.mit.edu	37	17	8273656	8273657	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:8273656_8273657GG>AA	uc002glf.1	-	1	280_281	c.274_275CC>TT	c.(274-276)cca>TTa	p.P92L	KRBA2_uc002glg.1_Missense_Mutation_p.P9L	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.	92	KRAB.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						AACCCCAGGTGGATCATTTCCA	0.391000														81			14		0	0	6.4e-05	0	0
TLL2	7093	broad.mit.edu	37	10	98180793	98180793	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:98180793C>T	uc001kml.2	-	6	1084	c.843G>A	c.(841-843)atG>atA	p.M281I	TLL2_uc009xvf.2_Missense_Mutation_p.M229I	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	281	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCCCAGCTTCCATTTTTAAGA	0.478000														59			8		0	0	0.000274275	0	0
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58053397	58053397	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:58053397C>T	uc002iyf.2	-	11	1117	c.882G>A	c.(880-882)agG>agA	p.R294R	AK097658_uc002iye.1_Intron					Homo sapiens TBC1D3P1-DHX40P1 readthrough (non-protein coding) (TBC1D3P1-DHX40P1), non-coding RNA.																		GTTTAAGCTTCCTGATTAGTT	0.388000														90			13		0	0	0.000566183	0	0
TNN	63923	broad.mit.edu	37	1	175097807	175097807	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:175097807C>T	uc001gkl.1	+	14	3368	c.3255C>T	c.(3253-3255)acC>acT	p.T1085T		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1085	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTCTGTACACCATCTACCTGC	0.597000														52			15		0	0	0.000566183	0	0
MIER1	57708	broad.mit.edu	37	1	67450578	67450578	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:67450578G>A	uc001dde.2	+	13	1827	c.1693G>A	c.(1693-1695)Gac>Aac	p.D565N	MIER1_uc010opf.1_Intron|MIER1_uc009way.2_Intron|MIER1_uc010opg.1_Missense_Mutation_p.D529N|MIER1_uc001ddf.2_Missense_Mutation_p.D529N|MIER1_uc001ddc.2_Intron|MIER1_uc001ddg.2_Missense_Mutation_p.D485N|MIER1_uc001ddh.2_Intron|MIER1_uc001ddj.1_Missense_Mutation_p.D512N|MIER1_uc001ddi.2_Intron	NM_001077700	NP_001139584	Q8N108	MIER1_HUMAN	Homo sapiens mesoderm induction early response 1 homolog (Xenopus laevis) (MIER1), transcript variant 2, mRNA.	536					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						AAACACAGATGACTAAATTTT	0.353000														42			21		0	0	0.000375601	0	0
ENPP7	339221	broad.mit.edu	37	17	77707326	77707327	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:77707326_77707327GG>TT	uc002jxa.3	+	1	294_295	c.274_275GG>TT	c.(274-276)ggg>TTg	p.G92L		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	92					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.H91D(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGAGAACCACGGGGTGGTTCAC	0.629000														121			7		0	0	6.4e-05	0	0
PAIP2	51247	broad.mit.edu	37	5	138700376	138700376	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:138700376C>T	uc003led.3	+	2	439	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	PAIP2_uc003lee.3_Nonsense_Mutation_p.Q88*|PAIP2_uc003lef.3_Nonsense_Mutation_p.Q88*	NM_016480	NP_057564	Q9BPZ3	PAIP2_HUMAN	Homo sapiens poly(A) binding protein interacting protein 2 (PAIP2), transcript variant 2, mRNA.	88					negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGACCAAATCCAAGACCAGTT	0.373000														71			9		0	0	0.000274275	0	0
SLC2A4	6517	broad.mit.edu	37	17	7186857	7186857	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:7186857C>T	uc002gfp.3	+	2	416	c.216C>T	c.(214-216)atC>atT	p.I72I	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Silent_p.I62I	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	72					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CCAGCTCCATCCCTCCAGGCA	0.602000														56			12		0	0	0.00136819	0	0
SEMA3E	9723	broad.mit.edu	37	7	83025989	83025989	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:83025989C>T	uc003uhy.2	-	11	2044	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	SEMA3E_uc022agy.1_Missense_Mutation_p.E415K	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	475	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.E475*(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATTACTTCTTCCATTGATTCC	0.289000														38			5		0	0	0.00116845	0	0
CYP2A13	1553	broad.mit.edu	37	19	41601005	41601005	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:41601005G>A	uc002opt.3	+	8	1312	c.1303_splice	c.e8+1	p.G435_splice		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	435					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CTTTTCCATCGGTAAGAGACC	0.567000														85			19		0	0	0.000295444	0	0
SPATA25	128497	broad.mit.edu	37	20	44515165	44515166	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:44515165_44515166GG>AA	uc002xqf.3	-	1	683_684	c.674_675CC>TT	c.(673-675)tcc>tTT	p.S225F		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA.	225						integral to membrane											TCTACAAGCAGGAGCCAGGAGG	0.594000														139			21		0	0	6.4e-05	0	0
GHR	2690	broad.mit.edu	37	5	42629201	42629201	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:42629201G>A	uc021xxv.1	+	2	290	c.153G>A	c.(151-153)aaG>aaA	p.K51K	GHR_uc003jmt.3_Silent_p.K44K|GHR_uc003jmu.3_Silent_p.K44K|GHR_uc003jmv.2_Silent_p.K44K|GHR_uc021xxw.1_Silent_p.K44K|GHR_uc021xxx.1_Silent_p.K44K|GHR_uc021xxy.1_Silent_p.K44K|GHR_uc021xxz.1_Silent_p.K44K|GHR_uc021xya.1_Silent_p.K44K|GHR_uc021xyb.1_Silent_p.K44K|GHR_uc021xyc.1_Silent_p.K44K|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Intron	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	44					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGGCCTAAAGACAAGTAAGA	0.383000														56			5		0	0	8.12818e-05	0	0
KANK4	163782	broad.mit.edu	37	1	62713245	62713245	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:62713245C>T	uc001dah.4	-	8	3159	c.2782G>A	c.(2782-2784)Gat>Aat	p.D928N	KANK4_uc001dai.4_Missense_Mutation_p.D300N|KANK4_uc001daf.4_Missense_Mutation_p.D66N|KANK4_uc001dag.4_Missense_Mutation_p.D284N	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	928										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GAGGATCCATCGTGGTCCTGC	0.627000														38			19		0	0	0.00152264	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173882230	173882230	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:173882230A>C	uc002uhv.4	+	20	2193	c.2006A>C	c.(2005-2007)gAa>gCa	p.E669A	RAPGEF4_uc002uhw.4_Missense_Mutation_p.E525A	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	669					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GGCTCTGATGAAGGTGAGAAC	0.458000														32			20		0	0	0.000295444	0	0
SSTR1	6751	broad.mit.edu	37	14	38678861	38678861	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:38678861G>A	uc021rsi.1	+	0	267	c.267G>A	c.(265-267)atG>atA	p.M89I	SSTR1_uc001wul.1_Missense_Mutation_p.M89I	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	89					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ATGCCAAGATGAAGACGGCCA	0.547000														57			10		0	0	0.00136819	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004611	52004611	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:52004611C>T	uc002pwx.1	-	0	433	c.377G>A	c.(376-378)gGa>gAa	p.G126E	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	126	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding	p.G126R(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTTCATATTTCCTCTCTCTAC	0.473000														69			16		0	0	0.000308642	0	0
KRT1	3848	broad.mit.edu	37	12	53073598	53073598	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:53073598G>A	uc001sau.1	-	0	594	c.535C>T	c.(535-537)Cga>Tga	p.R179*	KRT1_uc001sav.1_Nonsense_Mutation_p.R179*	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	179	Head.		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).		complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TCCCTTTCTCGAGACTTCACC	0.498000														106			19		0	0	0.000295444	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23826111	23826111	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:23826111G>A	uc003gqs.3	-	5	898	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	260					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTCAGAGGAAGAGATAAAGTT	0.348000														191			27		0	0	0.000491102	0	0
TUBAL3	79861	broad.mit.edu	37	10	5435860	5435860	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:5435860C>T	uc001ihy.3	-	3	999	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	TUBAL3_uc001ihz.3_Missense_Mutation_p.A281T	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	321					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AGGCAGCAGGCCATGTACTTC	0.532000														40			8		0	0	0.000157383	0	0
CNTN5	53942	broad.mit.edu	37	11	100170035	100170035	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:100170035C>T	uc001pga.3	+	19	3031	c.2527C>T	c.(2527-2529)Cct>Tct	p.P843S	CNTN5_uc001pfz.3_Missense_Mutation_p.P843S|CNTN5_uc021qpb.1_Missense_Mutation_p.P843S|CNTN5_uc021qpc.1_Missense_Mutation_p.P769S|CNTN5_uc010ruk.2_Missense_Mutation_p.P114S	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	843	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAGTGTCCCTCCTCTTACTCC	0.423000														71			19		0	0	0.00152264	0	0
PION	54103	broad.mit.edu	37	7	76984542	76984542	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:76984542G>A	uc003ugf.3	-	15	1405	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	PION_uc003ugg.1_Silent_p.F227F	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	442					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGCTTCCAGGAACTGCGCAC	0.458000														42			8		0	0	0.000442599	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968578	4968578	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrY:4968578C>T	uc004fqo.3	+	1	3693	c.2959C>T	c.(2959-2961)Ccc>Tcc	p.P987S	PCDH11Y_uc010nwg.1_Missense_Mutation_p.P976S|PCDH11Y_uc004fql.1_Missense_Mutation_p.P976S|PCDH11Y_uc004fqm.1_Missense_Mutation_p.P976S|PCDH11Y_uc004fqn.1_Missense_Mutation_p.P987S|PCDH11Y_uc004fqp.1_Missense_Mutation_p.P758S	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	987					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCCTGAAACTCCCCTGAATTT	0.488000														50			28		0	0	0.00178596	0	0
PDCL2	132954	broad.mit.edu	37	4	56448350	56448350	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:56448350G>A	uc003hbb.3	-	1	164	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	Homo sapiens phosducin-like 2 (PDCL2), mRNA.	21										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TCTTTAGGAGGAAGAATGCCG	0.358000														64			12		0	0	0.000308642	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147009297	147009297	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:147009297G>C	uc010jgo.1	-	13	2036	c.1888C>G	c.(1888-1890)Cct>Gct	p.P630A	JAKMIP2_uc003loq.1_Missense_Mutation_p.P630A|JAKMIP2_uc011dbx.1_Missense_Mutation_p.P588A|JAKMIP2_uc003lor.1_Missense_Mutation_p.P609A|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	630						Golgi apparatus		p.P630H(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)			ATGAGATCAGGGATGTTCACA	0.383000														59			4		0	0	0.00024832	0	0
SCN11A	11280	broad.mit.edu	37	3	38921572	38921572	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:38921572C>T	uc021wvy.1	-	18	3461	c.3262G>A	c.(3262-3264)Gaa>Aaa	p.E1088K	SCN11A_uc010hhn.1_Missense_Mutation_p.E166K	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1088					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTTAGTAATTCTTGGATTTTG	0.358000														33			8		0	0	0.000274275	0	0
OR5H6	79295	broad.mit.edu	37	3	97983449	97983449	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:97983449G>A	uc003dsi.1	+	0	321	c.321G>A	c.(319-321)atG>atA	p.M107I		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAGTAAGATGATATCTCTCT	0.398000														103			17		0	0	0.000422831	0	0
GPR50	9248	broad.mit.edu	37	X	150348275	150348275	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:150348275G>A	uc010ntg.2	+	1	358	c.220G>A	c.(220-222)Gat>Aat	p.D74N	GPR50_uc011myc.2_Missense_Mutation_p.D74N	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	74					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGTGGCCGATATGCTGGT	0.498000														116			58		0	0	0.000781405	0	0
CASP7	840	broad.mit.edu	37	10	115485222	115485222	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:115485222A>G	uc001lan.3	+	4	652	c.478A>G	c.(478-480)Aag>Gag	p.K160E	CASP7_uc001lam.3_Intron|CASP7_uc001lao.3_Missense_Mutation_p.K193E|CASP7_uc001lap.3_Missense_Mutation_p.K160E|CASP7_uc001laq.3_Missense_Mutation_p.K160E|CASP7_uc010qsa.2_Missense_Mutation_p.K245E|CASP7_uc010qsb.2_Missense_Mutation_p.K135E	NM_033339	NP_203125	P55210	CASP7_HUMAN	Homo sapiens caspase 7, apoptosis-related cysteine peptidase (CASP7), transcript variant gamma, mRNA.	160					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		CACACCAATAAAGGATTTGAC	0.423000														50			7		0	0	0.000157383	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378908	142378908	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:142378908G>A	uc003waa.1	+	1	176	c.176G>A	c.(175-177)gGa>gAa	p.G59E	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CAAGATCCAGGAATGGAACTA	0.438000														86			15		0	0	0.000308642	0	0
ENPP7	339221	broad.mit.edu	37	17	77708919	77708919	+	Silent	SNP	A	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:77708919A>G	uc002jxa.3	+	2	497	c.477A>G	c.(475-477)aaA>aaG	p.K159K		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	159					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGCCGGAAAGAAGGCATCG	0.587000														58			9		0	0	0.000442599	0	0
MPP7	143098	broad.mit.edu	37	10	28420539	28420539	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:28420539C>T	uc001iua.1	-	7	801	c.397G>A	c.(397-399)Gag>Aag	p.E133K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E133K|MPP7_uc009xla.2_Missense_Mutation_p.E133K|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	133					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GAGTCTTCCTCATCGTCAATA	0.418000														65			13		0	0	0.00136819	0	0
NRG2	9542	broad.mit.edu	37	5	139232076	139232076	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:139232076C>T	uc003lev.2	-	8	1739	c.1509G>A	c.(1507-1509)ggG>ggA	p.G503G	NRG2_uc003lew.2_Silent_p.G497G|NRG2_uc003lex.2_Silent_p.G495G|NRG2_uc003ley.2_Silent_p.G489G|NRG2_uc021yed.1_Silent_p.G429G	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	495					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGTGGCTCCCAGAGAAGG	0.537000														47			29		0	0	0.00127121	0	0
RGL1	23179	broad.mit.edu	37	1	183711306	183711306	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:183711306C>T	uc001gqm.3	+	1	475	c.14C>T	c.(13-15)cCt>cTt	p.P5L	RGL1_uc010pof.1_5'UTR|RGL1_uc010pog.2_Missense_Mutation_p.P5L|RGL1_uc010poh.2_Missense_Mutation_p.P5L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	0					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GAGGTGAAACCTGTGGGAGAA	0.443000														43			6		0	0	0.000157383	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546506	112546506	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:112546506C>A	uc003dzi.1	-	2	364	c.138G>T	c.(136-138)atG>atT	p.M46I	CD200R1L_uc010hqf.1_Missense_Mutation_p.M25I|CD200R1L_uc011bhw.1_Missense_Mutation_p.M25I	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	46	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CATTTATATCCATCAGTACAG	0.383000														92			7		0.000274275	0.00150069	0.000274275	1	0
DCLK1	9201	broad.mit.edu	37	13	36700265	36700265	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:36700265C>A	uc001uvf.3	-	1	293	c.10G>T	c.(10-12)Ggc>Tgc	p.G4C		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	4					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATGTCTCTGCCGAAGGACATG	0.507000														57			18		3.28513e-13	1.82485e-12	0.000586117	1	0
OR10J5	127385	broad.mit.edu	37	1	159505130	159505130	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:159505130G>A	uc010piw.2	-	0	668	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TTGAAGGATGGAAGAGATGAC	0.443000														39			10		0	0	0.000673444	0	0
DLG1	1739	broad.mit.edu	37	3	196817861	196817861	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:196817861C>T	uc010ial.3	-	15	1941	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	DLG1_uc011bub.2_Missense_Mutation_p.R445Q|DLG1_uc011buc.2_Missense_Mutation_p.R445Q|DLG1_uc011bud.2_Missense_Mutation_p.R244Q|DLG1_uc003fxo.4_Missense_Mutation_p.R561Q|DLG1_uc003fxn.4_Missense_Mutation_p.R561Q|DLG1_uc011bue.2_Missense_Mutation_p.R528Q|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.R528Q	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	561					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CATCTGCTCCCGTAAATCATG	0.318000														68			15		0	0	0.000566183	0	0
EPHA6	285220	broad.mit.edu	37	3	97439109	97439109	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:97439109G>A	uc010how.1	+	14	2832	c.2789G>A	c.(2788-2790)gGa>gAa	p.G930E	EPHA6_uc003drt.3_Missense_Mutation_p.G322E|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	835	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			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						TTCCAGGGTGGAAAAATCCCC	0.393000														70			14		0	0	0.000566183	0	0
SEC24C	9632	broad.mit.edu	37	10	75530515	75530515	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:75530515C>T	uc001juw.3	+	22	3283	c.3103C>T	c.(3103-3105)Ctc>Ttc	p.L1035F	SEC24C_uc001jux.3_Missense_Mutation_p.L1035F|SEC24C_uc010qko.2_Missense_Mutation_p.L916F|SEC24C_uc010qkp.2_Missense_Mutation_p.L283F|SEC24C_uc010qkq.2_Missense_Mutation_p.L283F|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.3_5'Flank	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	1035					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GGTTCGAGGCCTCATTGATAG	0.458000														57			14		0	0	0.000566183	0	0
ASTN1	460	broad.mit.edu	37	1	176983946	176983946	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:176983946C>T	uc001glc.3	-	7	1716	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	ASTN1_uc001glb.1_Missense_Mutation_p.E502K|ASTN1_uc001gld.1_Missense_Mutation_p.E502K|ASTN1_uc009wwx.1_Missense_Mutation_p.E502K|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	510	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.E502K(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCCCCCATTCGTTCCGAATG	0.493000														226			54		0	0	0.000781405	0	0
ZNF831	128611	broad.mit.edu	37	20	57766525	57766525	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:57766525C>T	uc002yan.3	+	0	451	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	151						intracellular	nucleic acid binding|zinc ion binding	p.R151C(2)|p.R151R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCACTGTGGTCGCGACTGCCT	0.662000														76			11		0	0	0.00185496	0	0
FAM81B	153643	broad.mit.edu	37	5	94784108	94784108	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:94784108G>A	uc003kla.1	+	8	1211	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	FAM81B_uc010jbe.1_Missense_Mutation_p.E185K	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	389										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CAAAAAGATGGAACAAATGGA	0.338000														31			13		0	0	0.000308642	0	0
LCT	3938	broad.mit.edu	37	2	136590681	136590681	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:136590681C>T	uc002tuu.1	-	2	731	c.720_splice	c.e2+1	p.Q240_splice		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	240	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGCTGTCACCTGGGCAAGCG	0.443000														210			37		0	0	0.000437636	0	0
UVSSA	57654	broad.mit.edu	37	4	1343498	1343498	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:1343498C>T	uc003gde.4	+	2	732	c.285C>T	c.(283-285)ccC>ccT	p.P95P		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	95																	GCACAGACCCCGCACAGCCTC	0.627000														28			5		0	0	8.12818e-05	0	0
SLC29A2	3177	broad.mit.edu	37	11	66138781	66138782	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:66138781_66138782CC>TT	uc001oht.3	-	1	273_274	c.44_45GG>AA	c.(43-45)ggg>gAA	p.G15E	SLC29A2_uc009yrf.3_5'UTR|SLC29A2_uc001ohu.3_Missense_Mutation_p.G15E|SLC29A2_uc001ohv.3_Missense_Mutation_p.G15E	NM_001532	NP_001523	Q14542	S29A2_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.	15					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						AGAAGCTGATCCCGACCAGGTG	0.698000														30			14		0	0	6.4e-05	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153554	133153554	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:133153554C>T	uc003ytj.3	-	9	1512	c.1287G>A	c.(1285-1287)cgG>cgA	p.R429R	KCNQ3_uc003yti.3_Silent_p.R309R|KCNQ3_uc010mdt.3_Silent_p.R429R	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	429					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R429L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AAAGGCGAACCCGATCCAAGA	0.418000														54			33		0	0	0.00058488	0	0
PROP1	5626	broad.mit.edu	37	5	177421179	177421179	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:177421179C>T	uc003mif.1	-	1	579	c.270G>A	c.(268-270)agG>agA	p.R90R		NM_006261	NP_006252	O75360	PROP1_HUMAN	Homo sapiens PROP paired-like homeobox 1 (PROP1), mRNA.	90					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G89E(1)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTACTGGTTCCTCCCAAAGG	0.662000														55			30		0	0	0.000409698	0	0
OR2A5	393046	broad.mit.edu	37	7	143747899	143747899	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:143747899C>T	uc011ktw.2	+	0	405	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTCTGTCATCATGAGATGGG	0.502000														91			14		0	0	0.000422831	0	0
CSH2	1443	broad.mit.edu	37	17	61950618	61950619	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:61950618_61950619GG>AA	uc002jch.3	-	1	206_207	c.91_92CC>TT	c.(91-93)ccg>TTg	p.P31L	CSH2_uc002jci.3_Missense_Mutation_p.P31L|CSH2_uc002jcg.3_Missense_Mutation_p.P31L	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	31					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CCTGGATAACGGAACGGTTTGG	0.604000														124			29		0	0	6.4e-05	0	0
NRAS	4893	broad.mit.edu	37	1	115256528	115256528	+	Missense_Mutation	SNP	T	G	G	rs121913255		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:115256528T>G	uc009wgu.3	-	2	437	c.183A>C	c.(181-183)caA>caC	p.Q61H		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(898)|p.Q61K(635)|p.Q61H(223)|p.Q61L(198)|p.Q61P(23)|p.Q61E(9)|p.Q61Q(6)|p.G60E(6)|p.Q61?(5)|p.Q61_E62>HK(2)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTCTTCTTGTCCAGCTG	0.463000	Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				90			38		0	0	0.00148497	0	0
SH3BGR	6450	broad.mit.edu	37	21	40880956	40880956	+	Splice_Site	SNP	T	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr21:40880956T>G	uc002yya.3	+	5	678	c.624_splice	c.e5+2	p.E208_splice	SH3BGR_uc002yxz.3_Splice_Site_p.E97_splice	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	208	Glu-rich (acidic).				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		ACAGAAGAGGTACGGTCGACC	0.353000														56			7		0	0	0.000673444	0	0
ZBBX	79740	broad.mit.edu	37	3	167023676	167023676	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:167023676C>T	uc011bpc.2	-	16	1817	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	ZBBX_uc003feq.3_Missense_Mutation_p.E465K|ZBBX_uc003fep.3_Missense_Mutation_p.E494K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	494						intracellular	zinc ion binding	p.I493F(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCAATTTTTTCAATGTCAGAA	0.318000														35			7		0	0	0.000157383	0	0
DOCK10	55619	broad.mit.edu	37	2	225666704	225666704	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:225666704A>G	uc010fwz.1	-	39	4561	c.4322T>C	c.(4321-4323)tTa>tCa	p.L1441S	DOCK10_uc002vob.2_Missense_Mutation_p.L1435S|DOCK10_uc002voa.2_Missense_Mutation_p.L97S|DOCK10_uc002voc.2_Missense_Mutation_p.L295S	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1441							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AATTATAGGTAAAGTTTGTGA	0.368000														91			40		0	0	0.00128727	0	0
FOXM1	2305	broad.mit.edu	37	12	2973634	2973634	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:2973634C>T	uc001qlf.3	-	7	1401	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q	FOXM1_uc001qle.3_Missense_Mutation_p.R373Q|FOXM1_uc009zea.3_Missense_Mutation_p.R358Q|FOXM1_uc009zeb.3_Missense_Mutation_p.R357Q|FOXM1_uc001qlg.3_Missense_Mutation_p.R358Q	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	373					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGAGCTGACCCGTGGTAGCAG	0.597000														36			7		0	0	0.000157383	0	0
IQUB	154865	broad.mit.edu	37	7	123143007	123143007	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:123143007C>T	uc003vkn.3	-	4	1435	c.858G>A	c.(856-858)agG>agA	p.R286R	IQUB_uc003vko.3_Silent_p.R286R|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Silent_p.R286R|IQUB_uc003vkq.2_3'UTR	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	286										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CCTGCGTATCCCTACAAAATA	0.338000														72			11		0	0	0.000219431	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398536	57398536	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:57398536G>A	uc001sml.2	-	1	319	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	ZBTB39_uc021qzg.1_Nonsense_Mutation_p.Q56*	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	56	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						AAGAGGTTCTGGAAGTAGCCA	0.577000														87			39		0	0	0.00195071	0	0
PRB3	5544	broad.mit.edu	37	12	11420926	11420926	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:11420926C>T	uc001qzs.3	-	2	295	c.257G>A	c.(256-258)gGa>gAa	p.G86E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	86	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.627000														164			27		0	0	0.000491102	0	0
FNBP4	23360	broad.mit.edu	37	11	47754103	47754103	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:47754103G>A	uc009ylv.3	-	10	1959	c.1806C>T	c.(1804-1806)tcC>tcT	p.S602S	FNBP4_uc001ngj.3_Silent_p.S509S|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	602	WW 2.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCCAGTGGCAGGACCAGCCTT	0.468000														168			32		0	0	0.000692331	0	0
CIT	11113	broad.mit.edu	37	12	120196499	120196499	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:120196499G>A	uc001txj.2	-	20	2483	c.2427C>T	c.(2425-2427)atC>atT	p.I809I	CIT_uc001txh.2_Silent_p.I301I|CIT_uc001txi.2_Silent_p.I767I	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	767					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCATAGCATTGATCATCTGAA	0.458000														101			20		0	0	0.000295444	0	0
PTH2R	5746	broad.mit.edu	37	2	209358265	209358265	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:209358265G>A	uc010zjb.2	+	12	1853	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	PTH2R_uc002vdb.3_Missense_Mutation_p.E512K|PTH2R_uc010fuo.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	512						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTTCCACGAGGAGACCAAGGA	0.522000														43			7		0	0	8.12818e-05	0	0
GRN	2896	broad.mit.edu	37	17	42429158	42429159	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:42429158_42429159CC>TT	uc002igp.1	+	9	1393_1394	c.1174_1175CC>TT	c.(1174-1176)cca>TTa	p.P392L		NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	392					signal transduction	extracellular space	cytokine activity|growth factor activity	p.P392T(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTGTCCAATCCCAGAGGTATAT	0.579000														23			7		0	0	6.4e-05	0	0
ZNF827	152485	broad.mit.edu	37	4	146696987	146696987	+	Missense_Mutation	SNP	C	T	T	rs147131944	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:146696987C>T	uc003ikn.3	-	9	2695	c.2647G>A	c.(2647-2649)Gtc>Atc	p.V883I	ZNF827_uc003ikm.3_Missense_Mutation_p.V883I|ZNF827_uc010iox.3_Missense_Mutation_p.V533I|ZNF827_uc003ikl.3_5'UTR	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCAGAGGTGACGGCGCTGACA	0.507000														62			10		0	0	0.000442599	0	0
HPX	3263	broad.mit.edu	37	11	6452878	6452878	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:6452878G>A	uc001mdg.2	-	8	1183	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	HPX_uc009yfc.2_Non-coding_Transcript	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	374					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CACCTGCCATGATATGGAGCC	0.577000														65			6		0	0	8.12818e-05	0	0
ZP3	7784	broad.mit.edu	37	7	76062930	76062930	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:76062930G>C	uc003ufd.4	+	3	689	c.679G>C	c.(679-681)Gcc>Ccc	p.A227P	ZP3_uc003ufc.4_Missense_Mutation_p.A176P|ZP3_uc003ufe.3_Missense_Mutation_p.A135P	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	227	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						AGACCAGAATGCCTCCCCTTA	0.577000														65			10		0	0	0.00136819	0	0
SLC4A1	6521	broad.mit.edu	37	17	42337236	42337236	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:42337236G>A	uc002igf.4	-	6	699	c.550C>T	c.(550-552)Cct>Tct	p.P184S	SLC4A1_uc021tyc.1_Missense_Mutation_p.P184S	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	184					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGCTGTGAAGGATCCCCAGAG	0.622000														43			16		0	0	0.000422831	0	0
TTN	7273	broad.mit.edu	37	2	179585312	179585312	+	Missense_Mutation	SNP	G	A	A	rs17452588	by1000genomes	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179585312G>A	uc021vsy.1	-	76	19670	c.19445C>T	c.(19444-19446)tCg>tTg	p.S6482L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3143L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7409	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGAGTTCCCGAAATTTCACA	0.383000														40			10		0	0	0.000673444	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955495	12955495	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:12955495G>A	uc001auo.3	-	1	257	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	62										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGGCTGAGGAAGGGCCAG	0.582000														56			27		0	0	0.001512	0	0
ZG16B	124220	broad.mit.edu	37	16	2882097	2882097	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:2882097G>A	uc002cru.3	+	3	640	c.564G>A	c.(562-564)gaG>gaA	p.E188E		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	188						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						ATCCACTAGAGGAGCCGACCA	0.562000														90			12		0	0	0.000978159	0	0
PCDH12	51294	broad.mit.edu	37	5	141336804	141336804	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:141336804C>T	uc003llx.3	-	0	1824	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	205	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGGATTTCCCTGTCCAGC	0.493000														59			30		0	0	0.00058488	0	0
ATXN2L	11273	broad.mit.edu	37	16	28845421	28845421	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:28845421C>T	uc002dqy.3	+	15	2228	c.2061C>T	c.(2059-2061)ccC>ccT	p.P687P	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Silent_p.P687P|ATXN2L_uc002dra.3_Silent_p.P687P|ATXN2L_uc002drb.3_Silent_p.P687P|ATXN2L_uc002drc.3_Silent_p.P687P|ATXN2L_uc010vdb.2_Silent_p.P693P|ATXN2L_uc002dre.3_Silent_p.P687P|ATXN2L_uc002drf.3_Silent_p.P96P|ATXN2L_uc002drg.3_5'UTR	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	687						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTCCGGGGCCCCGGACTCATT	0.522000														71			9		0	0	0.00136819	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647417	38647417	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:38647417C>T	uc010qex.1	+	1	288	c.213C>T	c.(211-213)ttC>ttT	p.F71F	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc010qew.1_Silent_p.F71F|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Silent_p.F71F					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		AGTCATTCTTCCGGGCCTCCA	0.473000														49			15		0	0	0.00121646	0	0
WDR11	55717	broad.mit.edu	37	10	122665478	122665478	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:122665478C>T	uc021pzt.1	+	26	3628	c.3382C>T	c.(3382-3384)Ctc>Ttc	p.L1128F	WDR11_uc010qte.2_Missense_Mutation_p.L730F|WDR11_uc001lfd.1_Missense_Mutation_p.L646F|AX747838_uc001lfe.1_5'Flank|WDR11_uc021pzu.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	1128						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATCAAAGGCTCTCCTGGTTCT	0.522000														61			13		0	0	0.000219431	0	0
PROL1	58503	broad.mit.edu	37	4	71275139	71275139	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:71275139G>A	uc003hfi.3	+	2	268	c.94G>A	c.(94-96)Ggc>Agc	p.G32S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	32	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ATATCTACCTGGCCAGCTGCC	0.433000														56			6		0	0	8.12818e-05	0	0
EXOSC10	5394	broad.mit.edu	37	1	11151167	11151167	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:11151167G>A	uc001asa.3	-	4	597	c.547C>T	c.(547-549)Cct>Tct	p.P183S	EXOSC10_uc001asb.3_Missense_Mutation_p.P183S|EXOSC10_uc009vmy.1_Missense_Mutation_p.P183S	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	183					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity	p.R182R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TTGAGCTGAGGTCGGATGATA	0.378000														78			44		0	0	0.00170553	0	0
COL20A1	57642	broad.mit.edu	37	20	61937359	61937359	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:61937359C>T	uc011aau.2	+	4	564	c.464C>T	c.(463-465)gCc>gTc	p.A155V	COL20A1_uc011aav.2_5'Flank	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	155					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCCCAAGTTGCCTTCACACCA	0.647000														32			5		0	0	0.000157383	0	0
DDX26B	203522	broad.mit.edu	37	X	134706811	134706811	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:134706811G>A	uc004eyw.4	+	10	1722	c.1359G>A	c.(1357-1359)gtG>gtA	p.V453V	DDX26B_uc004eyx.4_Silent_p.V54V	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	453										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAATTAAAGTGAAAAATCATT	0.358000														21			17		0	0	0.00074312	0	0
SRP68	6730	broad.mit.edu	37	17	74068551	74068551	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:74068551G>A	uc002jqk.1	-	0	57	c.22C>T	c.(22-24)Cca>Tca	p.P8S	SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Missense_Mutation_p.P8S|GALR2_uc002jqm.1_5'Flank	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	8					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ccgccgccTGGGACCTGCTTC	0.711000														33			4		0	0	8.12818e-05	0	0
TTN	7273	broad.mit.edu	37	2	179558399	179558399	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179558399C>T	uc021vsy.1	-	115	28024	c.27799G>A	c.(27799-27801)Gaa>Aaa	p.E9267K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5928K|TTN_uc010fre.1_Missense_Mutation_p.E378K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10194							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAACAATTTCCTTTTGTACC	0.299000														32			6		0	0	8.12818e-05	0	0
DLG1	1739	broad.mit.edu	37	3	196831779	196831779	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:196831779G>A	uc010ial.3	-	14	1899	c.1640C>T	c.(1639-1641)cCt>cTt	p.P547L	DLG1_uc011bub.2_Missense_Mutation_p.P431L|DLG1_uc011buc.2_Missense_Mutation_p.P431L|DLG1_uc011bud.2_Missense_Mutation_p.P230L|DLG1_uc003fxo.4_Missense_Mutation_p.P547L|DLG1_uc003fxn.4_Missense_Mutation_p.P547L|DLG1_uc011bue.2_Missense_Mutation_p.P514L|DLG1_uc011buf.1_Intron|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.P514L	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	547					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATTACCTTCAGGTCGATATTG	0.358000														148			40		0	0	0.00195071	0	0
TFAP2B	7021	broad.mit.edu	37	6	50791299	50791300	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:50791299_50791300CC>TT	uc003pag.3	+	1	427_428	c.261_262CC>TT	c.(259-264)tcccac>tcTTac	p.H88Y		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	88	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACCCCTACTCCCACGTCAACGA	0.678000														34			5		0	0	6.4e-05	0	0
KRTAP3-3	85293	broad.mit.edu	37	17	39150346	39150346	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:39150346C>T	uc002hvr.1	-	0	40	c.4G>A	c.(4-6)Gat>Aat	p.D2N		NM_033185	NP_149441	Q9BYR6	KRA33_HUMAN	Homo sapiens keratin associated protein 3-3 (KRTAP3-3), mRNA.	2						keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				GCACAGCAATCCATGGCTATT	0.527000														92			9		0	0	0.000978159	0	0
POLA2	23649	broad.mit.edu	37	11	65056524	65056524	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:65056524G>A	uc001odj.3	+	11	1467	c.1135G>A	c.(1135-1137)Ggc>Agc	p.G379S	POLA2_uc010rod.1_Missense_Mutation_p.G171S|POLA2_uc001odk.3_Missense_Mutation_p.G76S	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	379					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTTGCAGTTTGGCCCTTTCCT	0.498000														152			22		0	0	0.000586117	0	0
PLS3	5358	broad.mit.edu	37	X	114879411	114879411	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:114879411T>A	uc004eqe.3	+	10	1388	c.1254T>A	c.(1252-1254)caT>caA	p.H418Q	PLS3_uc010nqg.3_Missense_Mutation_p.H200Q|PLS3_uc004eqd.3_Missense_Mutation_p.H418Q|PLS3_uc011mtf.2_Missense_Mutation_p.H405Q|PLS3_uc011mth.2_Missense_Mutation_p.H373Q|PLS3_uc011mtg.2_Missense_Mutation_p.H391Q|PLS3_uc011mti.2_Missense_Mutation_p.H94Q|PLS3_uc011mtj.2_Missense_Mutation_p.H12Q|PLS3_uc011mtl.2_Non-coding_Transcript	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	418	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						ACGTAAACCATCTCTATGCGT	0.348000														40			8		0	0	0.000157383	0	0
PDS5B	23047	broad.mit.edu	37	13	33270999	33270999	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:33270999C>T	uc010abf.3	+	14	1746	c.1560C>T	c.(1558-1560)gcC>gcT	p.A520A	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	520					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGACAGATGCCAGTGTCAAGG	0.264000														113			35		0	0	0.000437636	0	0
SPEF2	79925	broad.mit.edu	37	5	35779292	35779292	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:35779292A>G	uc003jjo.3	+	29	4402	c.4291A>G	c.(4291-4293)Agc>Ggc	p.S1431G	SPEF2_uc003jjp.1_Missense_Mutation_p.S917G|SPEF2_uc003jjr.3_5'UTR	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1431					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)			ACTTTATTTAAGCCAAGAAGA	0.373000														54			19		0	0	0.00188189	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958049	57958049	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:57958049C>T	uc010rka.2	+	0	144	c.87C>T	c.(85-87)ctC>ctT	p.L29L		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTCTCTTCCTCATATTTTTGA	0.488000														56			17		0	0	0.000958276	0	0
ZNF480	147657	broad.mit.edu	37	19	52825755	52825755	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:52825755C>T	uc010ydl.2	+	4	1322	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	ZNF480_uc002pyv.3_Nonsense_Mutation_p.R341*|ZNF480_uc010ydm.2_Nonsense_Mutation_p.R375*|ZNF480_uc010epn.3_Nonsense_Mutation_p.R249*|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGCACGACATCGAAGAATTCA	0.378000														104			19		0	0	0.00074312	0	0
LAMB3	3914	broad.mit.edu	37	1	209789916	209789916	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:209789916C>T	uc001hhg.3	-	20	3672	c.3282G>A	c.(3280-3282)caG>caA	p.Q1094Q	LAMB3_uc009xco.3_Silent_p.Q1094Q|LAMB3_uc001hhh.3_Silent_p.Q1094Q	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1094	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCATGGAACTCTGACCCAACC	0.488000														77			13		0	0	0.00136819	0	0
OR11H4	390442	broad.mit.edu	37	14	20711150	20711150	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:20711150C>T	uc010tld.2	+	0	200	c.200C>T	c.(199-201)aCc>aTc	p.T67I		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTACTACACACCCCCATGTAC	0.438000														87			8		0	0	0.000157383	0	0
ANK3	288	broad.mit.edu	37	10	61831494	61831494	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:61831494G>A	uc001jky.3	-	36	9483	c.9145C>T	c.(9145-9147)Cct>Tct	p.P3049S	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.	3049					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.P3049P(1)		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						AAAGAATCAGGAGATTTGGTG	0.448000														69			20		0	0	0.00121646	0	0
CDH9	1007	broad.mit.edu	37	5	26881414	26881414	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:26881414G>A	uc003jgs.1	-	11	2370	c.2201C>T	c.(2200-2202)tCg>tTg	p.S734L	CDH9_uc011cnv.1_Missense_Mutation_p.S327L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	734					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CGTTGCCAGCGAATCATATGG	0.423000														50			28		0	0	0.00127121	0	0
ZNF568	374900	broad.mit.edu	37	19	37440683	37440683	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:37440683C>T	uc002ofc.3	+	6	1146	c.628C>T	c.(628-630)Cca>Tca	p.P210S	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.P209S|ZNF568_uc002ofd.3_Missense_Mutation_p.P146S|ZNF568_uc010efe.3_Missense_Mutation_p.P146S|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTTGGGAAACCATTTTACCA	0.373000														109			9		0	0	0.000274275	0	0
SP140L	93349	broad.mit.edu	37	2	231222635	231222635	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:231222635C>T	uc010fxm.1	+	2	314	c.223C>T	c.(223-225)Ctt>Ttt	p.L75F	SP140_uc010zma.1_Non-coding_Transcript|SP140L_uc010fxn.2_5'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	75	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ATTTCCATTCCTTGAGGGCCT	0.373000														236			35		0	0	0.00128727	0	0
PSG9	5678	broad.mit.edu	37	19	43762387	43762387	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:43762387C>T	uc002owd.4	-	4	1309	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	PSG9_uc002owe.4_Missense_Mutation_p.E311K|PSG9_uc010xwm.2_Missense_Mutation_p.E311K|PSG9_uc002owf.4_Missense_Mutation_p.E218K|PSG9_uc002owg.2_Missense_Mutation_p.E311K	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	404	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TTGGAGATTTCCTTGCCAGTG	0.448000														140			34		0	0	0.00058488	0	0
ODZ3	55714	broad.mit.edu	37	4	183673135	183673135	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:183673135G>A	uc003ivd.1	+	18	3887	c.3812G>A	c.(3811-3813)aGa>aAa	p.R1271K	ODZ3_uc003ive.1_Missense_Mutation_p.R684K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1271					signal transduction	integral to membrane		p.A1270V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GACGAGGCGAGATGTGGGGAT	0.478000														20			5		0	0	0.00116845	0	0
VPS33A	65082	broad.mit.edu	37	12	122745861	122745861	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:122745861G>A	uc001ucd.3	-	3	543	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	144					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.L144L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AATGGAATGAGATCTAAGCTG	0.453000														59			12		0	0	0.00136819	0	0
DLX4	1748	broad.mit.edu	37	17	48051150	48051150	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:48051150G>A	uc002ipv.3	+	2	837	c.566G>A	c.(565-567)gGg>gAg	p.G189E	DLX4_uc002ipw.3_Missense_Mutation_p.G117E|DLX4_uc021tzu.1_3'UTR	NM_138281	NP_612138	Q92988	DLX4_HUMAN	Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 1, mRNA.	189					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P188L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GACTTCCCTGGGAGGACCTTC	0.562000														60			17		0	0	0.000422831	0	0
STAB1	23166	broad.mit.edu	37	3	52539133	52539133	+	Missense_Mutation	SNP	C	T	T	rs144229839	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:52539133C>T	uc003dej.3	+	12	1566	c.1492C>T	c.(1492-1494)Ccc>Tcc	p.P498S	STAB1_uc003dei.1_Missense_Mutation_p.P498S	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	498					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTGGCAGGCCCCCTCTGGGAC	0.612000														70			19		0	0	0.000958276	0	0
DNAH2	146754	broad.mit.edu	37	17	7720620	7720620	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:7720620G>A	uc002giu.1	+	63	9921	c.9907G>A	c.(9907-9909)Gac>Aac	p.D3303N	DNAH2_uc010cnm.1_Missense_Mutation_p.D241N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3303					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTGGAGGAGGACCTGGGCTA	0.602000														56			11		0	0	0.00185496	0	0
OR10G7	390265	broad.mit.edu	37	11	123909307	123909307	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:123909307C>T	uc001pzq.1	-	0	402	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCCAGTCATCATGTTGGTGT	0.542000														72			20		0	0	0.000295444	0	0
VNN2	8875	broad.mit.edu	37	6	133077074	133077074	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:133077074G>A	uc003qdt.3	-	2	456	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Missense_Mutation_p.R149C|VNN2_uc003qdv.3_Missense_Mutation_p.R96C	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	149	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTGGAGTCACGGGAATTACAT	0.438000														32			10		0	0	0.000673444	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058153	152058153	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:152058153C>T	uc001ezo.1	-	2	2070	c.2005G>A	c.(2005-2007)Gaa>Aaa	p.E669K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	669							calcium ion binding	p.L668L(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATCTCTATTTCCAGGGACTTT	0.512000														104			18		0	0	0.00188189	0	0
COL4A6	1288	broad.mit.edu	37	X	107422663	107422663	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:107422663G>A	uc004enw.4	-	25	2243	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S	COL4A6_uc004env.4_Missense_Mutation_p.P713S|COL4A6_uc011msn.2_Missense_Mutation_p.P713S|COL4A6_uc010npk.3_Missense_Mutation_p.P713S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	714	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			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						CGAGGTCCAGGAAATCCTAAA	0.473000									Alport syndrome with Diffuse Leiomyomatosis					16			5		0	0	0.00116845	0	0
PKD1L2	114780	broad.mit.edu	37	16	81222604	81222604	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:81222604C>T	uc002fgh.1	-	10	1672	c.1672_splice	c.e10-1	p.K558_splice	PKD1L2_uc002fgj.3_Splice_Site_p.K558_splice	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	558	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTTTATCTTTCTGCAAAAAAA	0.517000														56			19		0	0	0.00152264	0	0
MYH8	4626	broad.mit.edu	37	17	10293783	10293783	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:10293783G>A	uc002gmm.2	-	39	5897	c.5802C>T	c.(5800-5802)atC>atT	p.I1934I	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1934					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACTCTGCACTGATTTTTGTGT	0.473000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					140			24		0	0	0.000878237	0	0
EML1	2009	broad.mit.edu	37	14	100405642	100405642	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:100405642C>T	uc001ygr.3	+	21	2426	c.2357C>T	c.(2356-2358)tCa>tTa	p.S786L	EML1_uc010tww.2_Missense_Mutation_p.S755L|EML1_uc001ygs.3_Missense_Mutation_p.S767L	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	767						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.F785L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CACCTCTTCTCATACCCCTGC	0.537000														30			7		0	0	0.000157383	0	0
TTN	7273	broad.mit.edu	37	2	179640518	179640518	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179640518C>T	uc021vsy.1	-	27	6298	c.6073G>A	c.(6073-6075)Gaa>Aaa	p.E2025K	TTN_uc021vsz.1_Missense_Mutation_p.E1979K|TTN_uc021vta.1_Missense_Mutation_p.E1979K|TTN_uc021vtb.1_Missense_Mutation_p.E1979K|TTN_uc002unb.2_Missense_Mutation_p.E2025K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2025							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATAGGATTCATCCTTCTTT	0.458000														84			47		0	0	0.000781405	0	0
EPHA10	284656	broad.mit.edu	37	1	38227462	38227462	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:38227462G>A	uc009vvi.3	-	2	551	c.465C>T	c.(463-465)atC>atT	p.I155I	EPHA10_uc001cbw.4_Silent_p.I155I	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	155						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGTCCGCCGCGATCGTGTCGA	0.662000														21			16		0	0	0.000308642	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143884125	143884125	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:143884125G>A	uc003wdz.2	-	1	1525	c.1352C>T	c.(1351-1353)cCc>cTc	p.P451L	ARHGEF35_uc022aog.1_Missense_Mutation_p.P451L	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 35 (ARHGEF35), mRNA.	451										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CTCTAGCAAGGGAGACAGAGC	0.527000														26			5		0	0	0.000157383	0	0
CD33	945	broad.mit.edu	37	19	51729168	51729168	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:51729168C>T	uc002pwa.2	+	2	568	c.528C>T	c.(526-528)atC>atT	p.I176I	CD33_uc010eos.1_Silent_p.I176I|CD33_uc010eot.1_Silent_p.I49I|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	176	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CACCCCCGATCTTCTCCTGGT	0.622000														43			12		0	0	0.00185496	0	0
EP400	57634	broad.mit.edu	37	12	132490707	132490707	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:132490707A>T	uc001ujn.3	+	13	3138	c.2986A>T	c.(2986-2988)Atc>Ttc	p.I996F	EP400_uc021rgq.1_Missense_Mutation_p.I995F|EP400_uc001ujm.3_Missense_Mutation_p.I996F	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1032	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.D996N(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTTGGTTCTCATCGACTCGCT	0.507000														35			8		0	0	0.000274275	0	0
CNGB3	54714	broad.mit.edu	37	8	87680392	87680392	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:87680392C>T	uc003ydx.3	-	4	546	c.498G>A	c.(496-498)aaG>aaA	p.K166K	CNGB3_uc010maj.3_Silent_p.K28K	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	166					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CAGCCGTGGGCTTTGCTTCAT	0.368000														74			10		0	0	0.00136819	0	0
KLK5	25818	broad.mit.edu	37	19	51451958	51451958	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:51451958G>A	uc002pue.3	-	5	882	c.664C>T	c.(664-666)Ccg>Tcg	p.P222S	KLK5_uc002puf.3_Missense_Mutation_p.P222S|KLK5_uc002pug.3_Missense_Mutation_p.P222S	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	222	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.P222P(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ATCTGTCTCGGGTAAGCATCC	0.498000														47			9		0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9049612	9049612	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:9049612G>A	uc002mkp.3	-	4	32223	c.32019C>T	c.(32017-32019)tcC>tcT	p.S10673S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10675	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCATGTGGGGACTTAGTCA	0.448000														58			14		0	0	0.000219431	0	0
S1PR3	1903	broad.mit.edu	37	9	91616967	91616967	+	Silent	SNP	C	T	T	rs149061614		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:91616967C>T	uc022bjm.1	+	0	852	c.852C>T	c.(850-852)atC>atT	p.I284I	S1PR3_uc004aqe.3_Silent_p.I284I	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	284					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.F283L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						AGTGGTTCATCGTGTTGGCTG	0.597000														29			6		0	0	0.000157383	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918713	21918713	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:21918713C>T	uc001rff.3	-	2	1557	c.1219G>A	c.(1219-1221)Gta>Ata	p.V407I		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	407						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	ACCTTTGGTACCATGAGGGAA	0.408000														72			12		0	0	0.000219431	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433367	73433367	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:73433367C>T	uc003dpl.1	-	9	2446	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	PDZRN3_uc011bgh.1_Missense_Mutation_p.E441K|PDZRN3_uc010hoe.1_Missense_Mutation_p.E482K|PDZRN3_uc021xaq.1_Missense_Mutation_p.E77K|PDZRN3_uc011bgf.1_Missense_Mutation_p.E501K|PDZRN3_uc011bgg.1_Missense_Mutation_p.E504K	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	784							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGATGCCCTCCGCCGCTCTC	0.647000														21			5		0	0	0.00116845	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552525	1552525	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:1552525C>T	uc010gai.3	-	2	691	c.592G>A	c.(592-594)Gac>Aac	p.D198N	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	198	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.D198G(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTGCGGGGTCCACGTTGGTC	0.557000														62			11		0	0	0.000308642	0	0
ABCC10	89845	broad.mit.edu	37	6	43413674	43413675	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:43413674_43413675CC>TT	uc003ouy.1	+	14	3583_3584	c.3368_3369CC>TT	c.(3367-3369)acc>aTT	p.T1123I	ABCC10_uc003ouz.1_Missense_Mutation_p.T1095I|ABCC10_uc010jyo.1_Missense_Mutation_p.T229I	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1123	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ACAGGGGCCACCTACAGGTGTG	0.619000														15			24		0	0	6.4e-05	0	0
ZNF425	155054	broad.mit.edu	37	7	148801467	148801467	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:148801467G>A	uc003wfj.3	-	3	1629	c.1496C>T	c.(1495-1497)cCc>cTc	p.P499L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	499					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCGCCGCAGGGAAACTCCTT	0.632000														33			8		0	0	0.00136819	0	0
MEGF8	1954	broad.mit.edu	37	19	42848898	42848898	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:42848898C>T	uc002otl.4	+	11	2645	c.2010C>T	c.(2008-2010)tcC>tcT	p.S670S	MEGF8_uc002otm.4_Silent_p.S211S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	720						integral to membrane	calcium ion binding|structural molecule activity	p.T669T(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCGTCACGTCCCTGGAGGCCT	0.672000														64			13		0	0	0.00185496	0	0
ASH1L	55870	broad.mit.edu	37	1	155340630	155340630	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:155340630G>A	uc009wqq.3	-	10	6972	c.6492C>T	c.(6490-6492)ccC>ccT	p.P2164P	ASH1L_uc001fkt.3_Silent_p.P2159P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2164	SET.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGCTTTTAGGGGCTCTTTGG	0.453000														53			19		0	0	0.00188189	0	0
UBE4B	10277	broad.mit.edu	37	1	10166366	10166366	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:10166366C>T	uc021ogc.1	+	6	1609	c.921C>T	c.(919-921)tcC>tcT	p.S307S	UBE4B_uc001aqs.4_Silent_p.S307S|UBE4B_uc001aqr.4_Intron|UBE4B_uc010oai.2_Intron|UBE4B_uc010oaj.2_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	307					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTGTGCCTTCCACTCCCCTCA	0.632000														27			13		0	0	0.000422831	0	0
OGFRL1	79627	broad.mit.edu	37	6	72011392	72011392	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:72011392C>T	uc003pfx.1	+	6	1159	c.996C>T	c.(994-996)ctC>ctT	p.L332L		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	332						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						CTTCCCCTCTCGCCTCCAGTC	0.463000														38			16		0	0	0.000566183	0	0
TDRD5	163589	broad.mit.edu	37	1	179562978	179562978	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:179562978G>A	uc010pnp.2	+	2	1134	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	TDRD5_uc021pfm.1_Missense_Mutation_p.E206K|TDRD5_uc001gnf.2_Missense_Mutation_p.E206K|TDRD5_uc021pfn.1_Missense_Mutation_p.E206K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	206	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTAACAGAGGAAAAGCCGAG	0.453000														43			9		0	0	0.000442599	0	0
EYA2	2139	broad.mit.edu	37	20	45630110	45630110	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:45630110C>T	uc002xsm.3	+	2	527	c.153C>T	c.(151-153)tcC>tcT	p.S51S	EYA2_uc010ghp.3_Silent_p.S51S|EYA2_uc002xsq.3_Silent_p.S51S	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	51					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				AGCTCTTCTCCAGGTGAGTGC	0.507000														58			8		0	0	0.000157383	0	0
CUBN	8029	broad.mit.edu	37	10	16911829	16911830	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:16911829_16911830GG>AA	uc001ioo.3	-	58	9311_9312	c.9259_9260CC>TT	c.(9259-9261)ccc>TTc	p.P3087F	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_Mutation_p.P443F	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3087	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGGTGGAGGGAACCACATCA	0.436000														37			7		0	0	6.4e-05	0	0
OR4K1	79544	broad.mit.edu	37	14	20404056	20404056	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:20404056C>T	uc001vwj.2	+	0	290	c.231C>T	c.(229-231)gcC>gcT	p.A77A		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F76S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTAACTTTGCCACCCCCAAGA	0.388000														134			18		0	0	0.00074312	0	0
AXDND1	126859	broad.mit.edu	37	1	179497515	179497515	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:179497515T>G	uc001gmo.3	+	22	3051	c.2664T>G	c.(2662-2664)gaT>gaG	p.D888E	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.D772E|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	888	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TTGGAGAAGATGAAAATGTTC	0.403000														37			4		0	0	0.00116845	0	0
ZPLD1	131368	broad.mit.edu	37	3	102175187	102175187	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:102175187G>A	uc003dvt.1	+	3	626	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	ZPLD1_uc003dvs.1_Missense_Mutation_p.E160K|ZPLD1_uc011bhg.1_Missense_Mutation_p.E160K	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	160	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TTATCCATTGGAATACCTGGT	0.368000														143			22		0	0	0.00047179	0	0
EPHA1	2041	broad.mit.edu	37	7	143098582	143098582	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:143098582C>T	uc003wcz.3	-	2	354	c.267G>A	c.(265-267)ggG>ggA	p.G89G		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	89						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AAGCCTCCTCCCCGCGGTAGA	0.607000														98			30		0	0	0.000491102	0	0
BDKRB2	624	broad.mit.edu	37	14	96706849	96706850	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:96706849_96706850CC>TT	uc010avm.1	+	2	380_381	c.184_185CC>TT	c.(184-186)ccc>TTc	p.P62F	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.P35F|BDKRB2_uc001yfg.2_Missense_Mutation_p.P62F	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	62					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CATCCAGCCCCCCTTCCTCTGG	0.589000														93			19		0	0	6.4e-05	0	0
LPA	4018	broad.mit.edu	37	6	161007508	161007508	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:161007508G>A	uc003qtl.3	-	25	4222	c.4102C>T	c.(4102-4104)Cca>Tca	p.P1368S		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3876	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCTGTGCTTGGAACTGGGACC	0.478000														49			6		0	0	8.12818e-05	0	0
IGSF10	285313	broad.mit.edu	37	3	151155011	151155011	+	Silent	SNP	A	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:151155011A>G	uc011bod.2	-	5	7338	c.7338T>C	c.(7336-7338)agT>agC	p.S2446S	IGSF10_uc011bob.2_Silent_p.S473S|IGSF10_uc011boc.2_Silent_p.S425S	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2446	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGATTCTCCACTGATGCCTT	0.393000														84			14		0	0	0.000422831	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537225	5537225	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:5537225G>A	uc001maz.4	-	0	732	c.447C>T	c.(445-447)gcC>gcT	p.A149A	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	149										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CCACAAAGTGGGCCAGTTCCA	0.527000														32			14		0	0	0.000308642	0	0
OTOGL	283310	broad.mit.edu	37	12	80672845	80672845	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:80672845C>T	uc001szd.3	+	24	2806	c.2800C>T	c.(2800-2802)Cca>Tca	p.P934S		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CACATATTATCCATGCCCAGC	0.353000														203			26		0	0	0.000409698	0	0
QSOX1	5768	broad.mit.edu	37	1	180158704	180158704	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:180158704C>T	uc001gnz.3	+	8	1110	c.1035C>T	c.(1033-1035)ccC>ccT	p.P345P	QSOX1_uc001gny.3_Silent_p.P345P	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	345					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	p.R344L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGGCCGGCCCTTAGTCCAGA	0.502000														93			15		0	0	0.00121646	0	0
NME1-NME2	654364	broad.mit.edu	37	17	49237347	49237347	+	Missense_Mutation	SNP	G	A	A	rs140072006		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:49237347G>A	uc002iti.2	+	2	264	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	NME1-NME2_uc010dbx.2_Missense_Mutation_p.E70K|NME1-NME2_uc002ith.2_Missense_Mutation_p.E70K|NME1-NME2_uc002itk.3_Missense_Mutation_p.E70K|NME1-NME2_uc002itj.3_Missense_Mutation_p.E45K	NM_000269	NP_000260	P22392	NDKB_HUMAN	Homo sapiens non-metastatic cells 1, protein (NM23A) expressed in (NME1), transcript variant 2, mRNA.	45	Interaction with AKAP13.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell adhesion|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation	cytosol|lamellipodium|nucleus|ruffle	ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			ATAGGCTTCCGAAGATCTTCT	0.468000														96			7		0	0	0.000442599	0	0
NACC2	138151	broad.mit.edu	37	9	138905089	138905090	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:138905089_138905090GG>AA	uc004cgv.4	-	4	1366_1367	c.1210_1211CC>TT	c.(1210-1212)ccc>TTc	p.P404F	NACC2_uc010nbh.3_Missense_Mutation_p.P43F	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	Homo sapiens NACC family member 2, BEN and BTB (POZ) domain containing (NACC2), mRNA.	404	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CTTCCGGCTGGGGTCGCTGGTG	0.673000														66			11		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9082989	9082989	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:9082989C>A	uc002mkp.3	-	0	9030	c.8826G>T	c.(8824-8826)atG>atT	p.M2942I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2943	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTGGAAGTCATCATCCTTG	0.498000														80			19		7.16444e-05	0.000393181	0.000586117	1	0
C9orf135	138255	broad.mit.edu	37	9	72471547	72471547	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:72471547C>T	uc004ahl.3	+	2	403	c.338C>T	c.(337-339)gCt>gTt	p.A113V	C9orf135_uc011lrw.2_Missense_Mutation_p.A5V|C9orf135_uc010moq.3_Missense_Mutation_p.A5V|C9orf135_uc011lrx.2_Non-coding_Transcript|C9orf135_uc010mop.3_Missense_Mutation_p.A113V	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	Homo sapiens chromosome 9 open reading frame 135 (C9orf135), mRNA.	113						integral to membrane				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						AAGAGCAAGGCTTTATTGAAT	0.353000														47			11		0	0	0.000673444	0	0
SLC17A4	10050	broad.mit.edu	37	6	25769267	25769267	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:25769267C>T	uc003nfe.3	+	2	265	c.146C>T	c.(145-147)tCa>tTa	p.S49L	SLC17A4_uc011djx.2_Missense_Mutation_p.S49L|SLC17A4_uc003nff.1_5'UTR|SLC17A4_uc003nfg.3_5'UTR	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	49					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGTAATTTTTCAATTTACACC	0.478000														48			43		0	0	0.000680045	0	0
MYO3A	53904	broad.mit.edu	37	10	26241128	26241128	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:26241128G>A	uc001isn.2	+	2	449	c.89G>A	c.(88-90)gGa>gAa	p.G30E	MYO3A_uc009xko.1_Missense_Mutation_p.G30E|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.G30E|MYO3A_uc001ism.2_Missense_Mutation_p.G30E	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	30	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTGGCAAAGGAACTTATGGG	0.323000														68			9		0	0	0.000274275	0	0
OR4X2	119764	broad.mit.edu	37	11	48267519	48267519	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:48267519G>A	uc001ngs.1	+	0	864	c.864G>A	c.(862-864)aaG>aaA	p.K288K		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AAATGAGGAAGGCCATGAAGA	0.443000														93			14		0	0	0.000422831	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718918	142718918	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:142718918G>A	uc022cfm.1	-	0	7	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	SLITRK4_uc022cfl.1_Silent_p.L3L|SLITRK4_uc004fbx.3_Silent_p.L3L|SLITRK4_uc004fby.3_Silent_p.L3L	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	3						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACAGCCACAGAAACATCTTC	0.348000														13			6		0	0	0.00116845	0	0
CSMD3	114788	broad.mit.edu	37	8	113293492	113293492	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:113293492G>C	uc003ynu.3	-	58	9578	c.9419C>G	c.(9418-9420)tCc>tGc	p.S3140C	CSMD3_uc003yns.3_Missense_Mutation_p.S2342C|CSMD3_uc003ynt.3_Missense_Mutation_p.S3100C|CSMD3_uc011lhx.2_Missense_Mutation_p.S2971C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3140	Sushi 23.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTCCATGCAGGAATAAATGAC	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				51			40		0	0	0.00195071	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746136	140746136	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:140746136C>T	uc003lju.2	+	0	2239	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.R747W	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	757					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R747W(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGGGGTTCGGGCTTTCCT	0.627000														65			25		0	0	0.000586117	0	0
ABCA2	20	broad.mit.edu	37	9	139908777	139908777	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:139908777G>A	uc004ckm.1	-	26	4220	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A	ABCA2_uc022bpy.1_Silent_p.A1291A|ABCA2_uc022bpz.1_Silent_p.A1361A|ABCA2_uc011mem.1_Silent_p.A1360A|ABCA2_uc004ckl.1_Silent_p.A1291A|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1360					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCGAGCACCGGGCCAGATTGC	0.677000														7			3		0	0	0.000602214	0	0
MYO3B	140469	broad.mit.edu	37	2	171323057	171323057	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:171323057G>A	uc002ufy.3	+	24	2993	c.2850G>A	c.(2848-2850)caG>caA	p.Q950Q	MYO3B_uc002ufv.3_Silent_p.Q937Q|MYO3B_uc010fqb.1_Silent_p.Q950Q|MYO3B_uc002ufz.3_Silent_p.Q950Q|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	950	Myosin head-like.				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						TGGTTGGACAGCCCCACTTTG	0.522000														77			25		0	0	0.00106085	0	0
CRY2	1408	broad.mit.edu	37	11	45882453	45882453	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:45882453C>T	uc010rgn.2	+	3	607	c.585C>T	c.(583-585)gcC>gcT	p.A195A	CRY2_uc009ykw.3_Silent_p.A113A|CRY2_uc010rgo.2_5'Flank	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	174					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCTTTCAGGCCATCATCAGCC	0.577000														75			13		0	0	0.000219431	0	0
CHD2	1106	broad.mit.edu	37	15	93547964	93547964	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:93547964C>A	uc002bsp.3	+	33	4971	c.4396C>A	c.(4396-4398)Cag>Aag	p.Q1466K	CHD2_uc002bso.1_Missense_Mutation_p.Q1466K	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1466					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGATCTGGACCAGGAGACATT	0.507000														66			18		5.03518e-11	2.79273e-10	0.000958276	1	0
CUBN	8029	broad.mit.edu	37	10	17087008	17087009	+	Missense_Mutation	DNP	CC	AT	AT	rs45588636		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:17087008_17087009CC>AT	uc001ioo.3	-	24	3721_3722	c.3669_3670GG>AT	c.(3667-3672)ctggct>ctATct	p.A1224S		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1224	CUB 7.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATACATACAGCCAGGTAATCTA	0.426000														62			8		0	0	6.4e-05	0	0
ITM2B	9445	broad.mit.edu	37	13	48830397	48830397	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:48830397C>T	uc001vbz.3	+	2	554	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F		NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN	Homo sapiens integral membrane protein 2B (ITM2B), mRNA.	111					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CCCAGCTGCTCTCTACCAGAC	0.393000														52			19		0	0	0.000958276	0	0
MKI67	4288	broad.mit.edu	37	10	129906706	129906706	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:129906706G>A	uc001lke.3	-	12	3593	c.3398C>T	c.(3397-3399)cCa>cTa	p.P1133L	MKI67_uc001lkf.3_Missense_Mutation_p.P773L|MKI67_uc009yav.1_Missense_Mutation_p.P708L|MKI67_uc009yaw.1_Missense_Mutation_p.P283L	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1133	16 X 122 AA approximate repeats.				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)				TGATTCTGGTGGTGGAGATTT	0.463000														220			43		0	0	0.000781405	0	0
AKR1C3	8644	broad.mit.edu	37	10	5144346	5144346	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:5144346G>A	uc001ihr.3	+	5	807	c.624G>A	c.(622-624)tcG>tcA	p.S208S	AKR1C3_uc021pml.1_Silent_p.S208S|AKR1C3_uc010qap.2_Silent_p.S185S|AKR1C3_uc001ihu.3_Silent_p.S208S	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	208					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.S208S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TCTGCAAGTCGAAAGATATTG	0.373000														60			14		0	0	0.000422831	0	0
CTAGE6P	340307	broad.mit.edu	37	7	143453526	143453526	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:143453526C>T	uc003wdk.4	-	0	1318	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	409						integral to membrane											TTCCTCTATTCGGTAATTTTC	0.373000														105			13		0	0	0.00136819	0	0
CAMKK2	10645	broad.mit.edu	37	12	121706444	121706444	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:121706444G>A	uc001tzv.3	-	4	1451	c.622C>T	c.(622-624)Cca>Tca	p.P208S	CAMKK2_uc001tzt.3_Missense_Mutation_p.P208S|CAMKK2_uc001tzu.3_Missense_Mutation_p.P208S|CAMKK2_uc001tzw.3_Missense_Mutation_p.P208S|CAMKK2_uc001tzx.3_Missense_Mutation_p.P208S|CAMKK2_uc001tzy.3_Missense_Mutation_p.P208S|CAMKK2_uc001uaa.1_Missense_Mutation_p.P208S|CAMKK2_uc001uab.3_Missense_Mutation_p.P208S|CAMKK2_uc001uac.3_Missense_Mutation_p.P208S	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	208	Protein kinase.|RP domain.				MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AACTCACGTGGAAAGCCGGCC	0.557000														252			45		0	0	0.000781405	0	0
GRIA2	2891	broad.mit.edu	37	4	158254447	158254447	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:158254447G>A	uc003ipm.4	+	7	1556	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	GRIA2_uc011cit.2_Missense_Mutation_p.G319E|GRIA2_uc003ipl.4_Missense_Mutation_p.G366E|GRIA2_uc003ipk.4_Missense_Mutation_p.G319E|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	366					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GACCAGAATGGAAAAAGAATA	0.363000														49			5		0	0	0.00116845	0	0
NPY5R	4889	broad.mit.edu	37	4	164272298	164272298	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:164272298G>A	uc003iqn.3	+	3	1055	c.873G>A	c.(871-873)aaG>aaA	p.K291K	NPY5R_uc021xtw.1_Silent_p.K291K	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	291					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GATATAGCAAGAAGACAGCAT	0.423000														84			15		0	0	0.000219431	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86526906	86526906	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:86526906G>A	uc011kha.2	-	18	2786	c.2601C>T	c.(2599-2601)ttC>ttT	p.F867F	KIAA1324L_uc003uie.3_Silent_p.F700F|KIAA1324L_uc011kgz.2_Silent_p.F753F|KIAA1324L_uc003uif.2_Silent_p.F619F	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	867						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)					TCTCCCACAGGAAATAGAACG	0.453000														29			5		0	0	0.000602214	0	0
KIAA0368	23392	broad.mit.edu	37	9	114178561	114178561	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:114178561G>A	uc004bfe.1	-	18	2289	c.2289C>T	c.(2287-2289)gcC>gcT	p.A763A	KIAA0368_uc010muc.1_Silent_p.A585A	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCTCTCCAAAGGCTGCTGGGT	0.393000														68			12		0	0	0.00185496	0	0
ARHGAP19	84986	broad.mit.edu	37	10	98995023	98995023	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:98995023G>A	uc001knb.3	-	8	1281	c.1235C>T	c.(1234-1236)tCc>tTc	p.S412F	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.S403F|ARHGAP19_uc009xvj.3_Missense_Mutation_p.S383F|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Missense_Mutation_p.S206F	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	412					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		TTGTACCTGGGAAGTAGAAGG	0.418000														148			29		0	0	0.000339439	0	0
RGS9	8787	broad.mit.edu	37	17	63157006	63157006	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:63157006G>A	uc002jfe.3	+	5	605	c.402G>A	c.(400-402)ggG>ggA	p.G134G	RGS9_uc021ubw.1_Silent_p.G134G|RGS9_uc010dem.3_Silent_p.G134G|RGS9_uc002jfd.3_Silent_p.G134G	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	134					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AAAAGAAAGGGATTTTGGAAG	0.388000														95			12		0	0	0.000422831	0	0
SEC31A	22872	broad.mit.edu	37	4	83765663	83765663	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:83765663C>T	uc003hnh.3	-	21	2683	c.2503_splice	c.e21-1	p.G835_splice	SEC31A_uc003hnd.3_Splice_Site|SEC31A_uc003hne.3_Splice_Site_p.G599_splice|SEC31A_uc011ccl.2_Splice_Site_p.G796_splice|SEC31A_uc003hnl.3_Splice_Site_p.G796_splice|SEC31A_uc003hng.3_Splice_Site_p.G835_splice|SEC31A_uc011ccm.2_Splice_Site_p.G830_splice|SEC31A_uc003hni.3_Splice_Site_p.G835_splice|SEC31A_uc003hnk.3_Splice_Site_p.G796_splice|SEC31A_uc003hnf.3_Splice_Site_p.G835_splice|SEC31A_uc011ccn.2_Splice_Site_p.G835_splice|SEC31A_uc003hnm.3_Splice_Site_p.G835_splice|SEC31A_uc003hnn.2_Intron	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	835	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GATTTTCTCCCTAAGAAACAA	0.418000														32			5		0	0	0.000602214	0	0
KRT3	3850	broad.mit.edu	37	12	53189772	53189772	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:53189772G>A	uc001say.3	-	0	121	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	19	Gly-rich.|Head.				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						ACAGCAGAGCGGCCGGAGAAA	0.622000														32			7		0	0	0.000274275	0	0
DAK	26007	broad.mit.edu	37	11	61111709	61111710	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:61111709_61111710GG>AA	uc001nre.3	+	12	1461_1462	c.1204_1205GG>AA	c.(1204-1206)ggc>AAc	p.G402N	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Missense_Mutation_p.G332N	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	402	DhaL.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TGCTGGTGACGGCGACTGTGGC	0.624000														36			15		0	0	6.4e-05	0	0
IGHE	3497	broad.mit.edu	37	14	106067475	106067475	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:106067475G>A	uc001yrw.1	-	2	438	c.426C>T	c.(424-426)ccC>ccT	p.P142P	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.P89P|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		GGATGGTCGGGGGGAAGTGCC	0.637000														15			4		0	0	0.000602214	0	0
HMBOX1	79618	broad.mit.edu	37	8	28902934	28902934	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:28902934C>T	uc003xhd.4	+	6	1250	c.908C>T	c.(907-909)gCt>gTt	p.A303V	HMBOX1_uc010lvd.3_Missense_Mutation_p.A303V|HMBOX1_uc010lve.3_Non-coding_Transcript|HMBOX1_uc003xhe.3_Missense_Mutation_p.A303V|HMBOX1_uc011lay.2_Missense_Mutation_p.A303V|HMBOX1_uc003xhg.3_Missense_Mutation_p.A291V|HMBOX1_uc003xhf.3_Missense_Mutation_p.A291V	NM_001135726	NP_078843	Q6NT76	HMBX1_HUMAN	Homo sapiens homeobox containing 1 (HMBOX1), transcript variant 2, mRNA.	303					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		ATTGCAAACGCTTGCAATGCA	0.453000														78			38		0	0	0.00128727	0	0
PBX4	80714	broad.mit.edu	37	19	19680375	19680375	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:19680375G>A	uc002nmy.3	-	4	938	c.651C>T	c.(649-651)ttC>ttT	p.F217F	PBX4_uc010xra.2_Silent_p.F52F|PBX4_uc010xqz.2_Non-coding_Transcript	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	217							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CCTGCTTGCTGAAATTCCGCC	0.522000														119			29		0	0	0.000409698	0	0
MARCH10	162333	broad.mit.edu	37	17	60814083	60814083	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:60814083C>T	uc010dds.3	-	6	1545	c.1260G>A	c.(1258-1260)agG>agA	p.R420R	MARCH10_uc010ddr.3_Silent_p.R382R|MARCH10_uc002jag.4_Silent_p.R382R|MARCH10_uc002jah.2_Silent_p.R381R|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	382							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TAGCAGATTCCCTATCAGGCA	0.537000														140			20		0	0	0.000586117	0	0
OR10K2	391107	broad.mit.edu	37	1	158390110	158390110	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:158390110G>A	uc010pii.2	-	0	547	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183N(2)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TTGAGGACAGGAGCAATGTCA	0.443000														65			10		0	0	0.000978159	0	0
PDZD8	118987	broad.mit.edu	37	10	119043328	119043329	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:119043328_119043329GG>TT	uc001lde.1	-	4	3114_3115	c.2915_2916CC>AA	c.(2914-2916)ccc>cAA	p.P972Q		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	972					intracellular signal transduction		metal ion binding	p.P972P(2)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTGACGTGTTGGGTGTGTGTTT	0.446000														234			11		0	0	6.4e-05	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058761	152058761	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:152058761C>T	uc001ezo.1	-	2	1462	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	466							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGCCTCTTCTCCTGAGACTGC	0.458000														161			34		0	0	0.00170553	0	0
TLR10	81793	broad.mit.edu	37	4	38775819	38775819	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:38775819G>A	uc003gtj.3	-	3	2031	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	TLR10_uc021xnk.1_Silent_p.L451L|TLR10_uc003gti.3_Silent_p.L465L|TLR10_uc021xnl.1_Silent_p.L465L|TLR10_uc003gtk.3_Silent_p.L465L|TLR10_uc021xnm.1_Silent_p.L465L	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	465					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AAGGCCATCAGATGAATAGTC	0.343000														69			18		0	0	0.00074312	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6380219	6380219	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:6380219G>A	uc003gja.3	-	2	273	c.249C>T	c.(247-249)ctC>ctT	p.L83L	PPP2R2C_uc003gjb.3_Silent_p.L66L|PPP2R2C_uc003gjc.3_Silent_p.L83L|PPP2R2C_uc011bwd.2_Silent_p.L76L|PPP2R2C_uc011bwe.2_Silent_p.L76L|PPP2R2C_uc003gjd.1_Silent_p.L171L	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	83					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CCAGGCTCTTGAGATAGTCAA	0.572000														67			12		0	0	0.00185496	0	0
DNAH7	56171	broad.mit.edu	37	2	196709789	196709789	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:196709789C>T	uc002utj.4	-	46	8983	c.8882G>A	c.(8881-8883)cGa>cAa	p.R2961Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2961	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						ATTCCAAGTTCGAATTGTCAC	0.363000														29			8		0	0	0.000442599	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222625	130222625	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:130222625C>T	uc004evz.3	+	11	1855	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S	ARHGAP36_uc004ewa.3_Missense_Mutation_p.P492S|ARHGAP36_uc004ewb.3_Missense_Mutation_p.P473S|ARHGAP36_uc004ewc.3_Missense_Mutation_p.P368S	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	504					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCCAGCTGTGCCTTCCGGCAC	0.537000														9			4		0	0	0.00116845	0	0
NLRP10	338322	broad.mit.edu	37	11	7981739	7981739	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:7981739G>A	uc001mfv.1	-	1	1437	c.1420C>T	c.(1420-1422)Cat>Tat	p.H474Y		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	474	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACATGGCATGAAAAAAGTCC	0.532000														96			23		0	0	0.000720815	0	0
PTPN22	26191	broad.mit.edu	37	1	114372239	114372239	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:114372239G>A	uc001eds.3	-	17	2355	c.2225C>T	c.(2224-2226)cCt>cTt	p.P742L	PTPN22_uc021orx.1_Missense_Mutation_p.P714L|PTPN22_uc009wgq.3_Missense_Mutation_p.P687L|PTPN22_uc021ory.1_Missense_Mutation_p.P718L|PTPN22_uc010owo.2_Missense_Mutation_p.P498L|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P742L|PTPN22_uc009wgs.2_Missense_Mutation_p.P615L	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	742				P -> S (in Ref. 2; AAD27764).	T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTTTTTCCAGGAGTCTTCAG	0.388000														70			40		0	0	0.000589545	0	0
FBXO32	114907	broad.mit.edu	37	8	124518802	124518802	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:124518802C>T	uc003yqr.3	-	6	903	c.664G>A	c.(664-666)Ggc>Agc	p.G222S	FBXO32_uc003yqp.2_Missense_Mutation_p.G77S|FBXO32_uc010mdk.3_Missense_Mutation_p.G129S	NM_058229	NP_680482	Q969P5	FBX32_HUMAN	Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA.	222										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGGTGAGGCCTTTGAAGGCA	0.632000														53			23		0	0	0.00047179	0	0
GPC5	2262	broad.mit.edu	37	13	92346025	92346025	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:92346025G>A	uc010tif.2	+	2	1276	c.910G>A	c.(910-912)Gat>Aat	p.D304N		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	304						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.S303L(1)|p.S303S(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGAACTCTCGGATGCAATGCA	0.483000														92			16		0	0	0.00074312	0	0
COPS2	9318	broad.mit.edu	37	15	49423006	49423006	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:49423006G>A	uc001zxh.3	-	9	1055	c.976C>T	c.(976-978)Cag>Tag	p.Q326*	COPS2_uc001zxf.3_Nonsense_Mutation_p.Q319*|COPS2_uc010ufa.2_Nonsense_Mutation_p.Q255*	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	319	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TCATTATTCTGATAGGCACTA	0.303000														57			12		0	0	0.00136819	0	0
FMO3	2328	broad.mit.edu	37	1	171073096	171073096	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:171073096G>A	uc001ghi.3	+	2	414	c.303G>A	c.(301-303)ctG>ctA	p.L101L	FMO3_uc001ghh.3_Silent_p.L101L|FMO3_uc010pmb.2_Silent_p.L81L|FMO3_uc010pmc.2_Intron|MIR1295A_uc021pes.1_5'Flank	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	101					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAACCTCCTGAAGTACATAC	0.378000														39			5		0	0	0.000602214	0	0
ALPK2	115701	broad.mit.edu	37	18	56202291	56202291	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:56202291C>T	uc002lhj.4	-	4	5342	c.5128G>A	c.(5128-5130)Gag>Aag	p.E1710K	ALPK2_uc002lhk.1_Missense_Mutation_p.E1041K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1710							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTCTTGACCTCCTCTGACCCC	0.567000														73			11		0	0	0.000978159	0	0
MAP2K2	5605	broad.mit.edu	37	19	4117551	4117552	+	Missense_Mutation	DNP	AG	GA	GA	rs121434498		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:4117551_4117552AG>GA	uc002lzk.3	-	1	422_423	c.168_169CT>TC	c.(166-171)gccttt>gcTCtt	p.F57L		NM_030662	NP_109587	P36507	MP2K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA.	57			F -> C (in CFC syndrome).		ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTGAGAAAGGCTTCCAGCC	0.599000														68			14		0	0	6.4e-05	0	0
SMOX	54498	broad.mit.edu	37	20	4162476	4162476	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:4162476C>T	uc002wkp.2	+	3	663	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SMOX_uc010zqo.1_Silent_p.F131F|SMOX_uc002wkk.1_Silent_p.F154F|SMOX_uc002wkl.1_Silent_p.F154F|SMOX_uc002wkm.1_Silent_p.F154F|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Silent_p.F154F	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	154					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGGAGTTCTTCCGGCACGATA	0.527000														55			9		0	0	0.000442599	0	0
ANK3	288	broad.mit.edu	37	10	61946488	61946488	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:61946488C>T	uc001jky.3	-	16	2408	c.2070G>A	c.(2068-2070)gtG>gtA	p.V690V	ANK3_uc010qih.2_Silent_p.V673V|ANK3_uc001jkz.4_Silent_p.V684V|ANK3_uc001jlb.1_Silent_p.V219V|ANK3_uc001jlc.1_Silent_p.V351V	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	690					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						TGCTCAGGTTCACATTCGCAT	0.507000														25			9		0	0	0.000274275	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70674071	70674071	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:70674071C>T	uc003xyl.3	-	2	1654	c.947G>A	c.(946-948)gGa>gAa	p.G316E	SLCO5A1_uc010lzb.3_Missense_Mutation_p.G316E|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.G316E|SLCO5A1_uc010lzc.2_Missense_Mutation_p.G316E	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	316						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAATAAATATCCCACTGCAGG	0.418000														34			16		0	0	0.000422831	0	0
FRMPD2	143162	broad.mit.edu	37	10	49393605	49393605	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:49393605G>A	uc001jgi.3	-	17	2681	c.2350C>T	c.(2350-2352)Cgt>Tgt	p.R784C	FRMPD2_uc001jgh.3_Missense_Mutation_p.R752C|FRMPD2_uc001jgj.3_Missense_Mutation_p.R753C	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	784	PDZ 1.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.R784C(2)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCAAAACCACGATGTGGGTCA	0.502000														52			20		0	0	0.00047179	0	0
CSF2RA	1438	broad.mit.edu	37	X	1401656	1401656	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:1401656G>A	uc010nct.2	+	3	382	c.60G>A	c.(58-60)ctG>ctA	p.L20L	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.L20L|CSF2RA_uc004cpq.2_Silent_p.L20L|CSF2RA_uc004cpn.2_Silent_p.L20L|CSF2RA_uc004cpo.2_Silent_p.L20L|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.L20L|CSF2RA_uc010ncv.2_Silent_p.L20L|CSF2RA_uc004cpr.2_Silent_p.L20L	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	20						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CATTCCTCCTGATCCCAGAGA	0.537000														160			37		0	0	0.000437636	0	0
POLR3D	661	broad.mit.edu	37	8	22105716	22105716	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:22105716C>T	uc003xbl.3	+	4	494	c.411C>T	c.(409-411)atC>atT	p.I137I	POLR3D_uc003xbm.3_Silent_p.I137I|POLR3D_uc011kze.2_Intron	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	137					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.H136D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CTTCTCATATCATCAACATCA	0.483000														40			21		0	0	0.00121646	0	0
RIC3	79608	broad.mit.edu	37	11	8132663	8132663	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:8132663G>A	uc010rbm.1	-	5	830	c.776C>T	c.(775-777)cCa>cTa	p.P259L	RIC3_uc001mgb.2_Missense_Mutation_p.P69L|RIC3_uc010rbl.1_Missense_Mutation_p.P181L|RIC3_uc001mgd.2_Missense_Mutation_p.P231L|RIC3_uc001mgc.2_Missense_Mutation_p.P230L|RIC3_uc009yfm.2_Missense_Mutation_p.P150L|RIC3_uc001mge.2_Missense_Mutation_p.P49L|RIC3_uc009yfn.2_Missense_Mutation_p.P34L	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	231						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GTCATAAATTGGGTAAGTCTC	0.373000														58			8		0	0	0.000157383	0	0
WDR93	56964	broad.mit.edu	37	15	90281443	90281443	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:90281443G>A	uc002boj.3	+	15	2038	c.1937G>A	c.(1936-1938)aGa>aAa	p.R646K	WDR93_uc010bnr.3_Missense_Mutation_p.R618K|WDR93_uc010upz.2_Missense_Mutation_p.R363K	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	646					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGGAGAAGAGATGTGAGCGT	0.493000														128			29		0	0	0.000339439	0	0
DNAH7	56171	broad.mit.edu	37	2	196722214	196722214	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:196722214G>A	uc002utj.4	-	43	8402	c.8301C>T	c.(8299-8301)atC>atT	p.I2767I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2767	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						TTTTTCTTATGATATTCATAT	0.393000														57			23		0	0	0.000295444	0	0
HRNR	388697	broad.mit.edu	37	1	152187956	152187956	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:152187956C>T	uc001ezt.1	-	2	6225	c.6149G>A	c.(6148-6150)aGt>aAt	p.S2050N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2050					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAAGACTGACTTGAGCCAGA	0.607000														348			13		0	0	0.000958276	0	0
CD163L1	283316	broad.mit.edu	37	12	7585176	7585176	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:7585176G>A	uc010sge.2	-	3	658	c.632C>T	c.(631-633)tCt>tTt	p.S211F	CD163L1_uc001qsy.3_Missense_Mutation_p.S201F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	201	SRCR 2.					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						AGAAATAAAAGAAGATGGACA	0.468000														48			7		0	0	8.12818e-05	0	0
DCBLD1	285761	broad.mit.edu	37	6	117858354	117858354	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:117858354C>T	uc003pxs.3	+	6	851	c.726C>T	c.(724-726)tcC>tcT	p.S242S	ROS1_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.S242S|DCBLD1_uc003pxt.1_5'Flank	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 1 (DCBLD1), mRNA.	242	LCCL.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCAGTGGTTCCCTGTCAGACA	0.418000														72			18		0	0	0.00121646	0	0
ZNF733P	643955	broad.mit.edu	37	7	62753117	62753117	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:62753117C>T	uc011kdj.2	-	2	319	c.251G>A	c.(250-252)gGa>gAa	p.G84E						Homo sapiens zinc finger protein 479 pseudogene (LOC643955), non-coding RNA.																		TCCACATTTTCCATATGTTCT	0.378000														112			15		0	0	0.00188189	0	0
OR5K4	403278	broad.mit.edu	37	3	98072717	98072717	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:98072717C>T	uc011bgv.2	+	0	20	c.20C>T	c.(19-21)tCc>tTc	p.S7F		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GAAAATCACTCCTTAGCAGCT	0.403000														28			6		0	0	0.00116845	0	0
ASTN1	460	broad.mit.edu	37	1	176984010	176984010	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:176984010C>T	uc001glc.3	-	8	1651	c.1439_splice	c.e8-1	p.G480_splice	ASTN1_uc001glb.1_Splice_Site_p.G480_splice|ASTN1_uc001gld.1_Splice_Site_p.G480_splice|ASTN1_uc009wwx.1_Splice_Site_p.G480_splice|ASTN1_uc001gle.4_Splice_Site	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	480	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGAGGCATTCCCCTTAGAAGC	0.428000														140			24		0	0	0.00047179	0	0
LIPE	3991	broad.mit.edu	37	19	42907128	42907128	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:42907128C>T	uc002otr.3	-	8	2875	c.2598G>A	c.(2596-2598)ctG>ctA	p.L866L	AK311181_uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	866					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AATCCGTGCCCAGTGGGCCCT	0.622000														68			8		0	0	0.000274275	0	0
CRP	1401	broad.mit.edu	37	1	159683778	159683778	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:159683778G>A	uc001ftw.3	-	1	316	c.212C>T	c.(211-213)tCg>tTg	p.S71L	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_5'Flank	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	71	Pentaxin.			YSIFSYATKRQDNEIL -> TVFSRMPPRDKTMRFF (in Ref. 4; CAA39671).	acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	GGTGGCATACGAGAAAATACT	0.448000														53			16		0	0	0.000422831	0	0
GALNTL6	442117	broad.mit.edu	37	4	173232893	173232893	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:173232893C>T	uc003isv.3	+	3	1112	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	126						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R126C(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCCAGATATTCGTCATGCTAA	0.373000														150			25		0	0	0.000339439	0	0
PCLO	27445	broad.mit.edu	37	7	82545686	82545686	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:82545686G>A	uc003uhx.2	-	6	11905	c.11616C>T	c.(11614-11616)acC>acT	p.T3872T	PCLO_uc003uhv.2_Silent_p.T3872T|PCLO_uc010lec.3_Silent_p.T837T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3803	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTCTGTTTGGGTTTGTGGTG	0.478000														249			46		0	0	0.000781405	0	0
GRIA1	2890	broad.mit.edu	37	5	153085609	153085609	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:153085609G>A	uc011dcy.2	+	10	1862	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	GRIA1_uc003lva.4_Missense_Mutation_p.G602E|GRIA1_uc003luy.4_Missense_Mutation_p.G602E|GRIA1_uc003luz.4_Missense_Mutation_p.G507E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.G522E|GRIA1_uc011dcx.2_Missense_Mutation_p.G533E|GRIA1_uc011dcz.2_Missense_Mutation_p.G612E|GRIA1_uc010jia.1_Missense_Mutation_p.G582E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	602					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGCAGCAAGGATGTGACATT	0.433000														51			22		0	0	0.000375601	0	0
ALPK2	115701	broad.mit.edu	37	18	56203815	56203815	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:56203815C>T	uc002lhj.4	-	4	3818	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	ALPK2_uc002lhk.1_Missense_Mutation_p.E533K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1202							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGTCTTCTTCCCCAGCAGTT	0.557000														77			22		0	0	0.000295444	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43800297	43800297	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr21:43800297G>A	uc002zbb.2	-	9	1178	c.977C>T	c.(976-978)cCc>cTc	p.P326L	TMPRSS3_uc002zay.2_Missense_Mutation_p.P84L|TMPRSS3_uc002zaz.2_Missense_Mutation_p.P199L|TMPRSS3_uc002zba.2_Missense_Mutation_p.P199L|TMPRSS3_uc002zbc.2_Missense_Mutation_p.P326L	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	326	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TTCAGAGTTGGGCAGGCACAC	0.507000														29			12		0	0	0.00185496	0	0
NEB	4703	broad.mit.edu	37	2	152404848	152404848	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:152404848G>A	uc021vrb.1	-	101	15057	c.15028C>T	c.(15028-15030)Cgg>Tgg	p.R5010W	NEB_uc002txr.3_Missense_Mutation_p.R1476W|NEB_uc002txu.3_Missense_Mutation_p.R6711W|NEB_uc021vrc.1_Missense_Mutation_p.R6711W|NEB_uc010fnx.3_Missense_Mutation_p.R4998W|NEB_uc021vrd.1_Missense_Mutation_p.R5010W	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5010					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGACTCTCCGGACGTGGACA	0.423000														76			18		0	0	0.000958276	0	0
KLK7	5650	broad.mit.edu	37	19	51483090	51483090	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:51483090G>A	uc002puo.3	-	4	662	c.560C>T	c.(559-561)tCc>tTc	p.S187F	KLK7_uc002pup.3_Missense_Mutation_p.S187F|KLK7_uc021uyj.1_Missense_Mutation_p.S180F|KLK7_uc010eok.3_Missense_Mutation_p.S115F	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	187	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GCACAGCATGGAATTTTCCAG	0.567000														3			3		0	0	6.4e-05	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142919	31142919	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:31142919C>T	uc003tca.2	+	13	1404	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.S400F|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.S399F|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.S351F|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.S400F|ADCYAP1R1_uc003tcf.1_Missense_Mutation_p.S130F	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	372					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TTTGCCTTCTCCCCAGAGAAT	0.562000														71			23		0	0	0.000586117	0	0
TTN	7273	broad.mit.edu	37	2	179460364	179460364	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179460364G>A	uc021vsy.1	-	243	50238	c.50013C>T	c.(50011-50013)acC>acT	p.T16671T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T10366T|TTN_uc021vta.1_Silent_p.T10299T|TTN_uc021vtb.1_Silent_p.T10174T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17598	Fibronectin type-III 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTTGTCGGGTAACTGTAT	0.443000														20			9		0	0	0.000673444	0	0
SHROOM4	57477	broad.mit.edu	37	X	50351041	50351041	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:50351041G>A	uc004dpe.2	-	5	3127	c.3101C>T	c.(3100-3102)tCa>tTa	p.S1034L	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1034					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGTTTCCTCTGATTTTTTCAA	0.522000														7			7		0	0	0.000157383	0	0
ABHD16A	7920	broad.mit.edu	37	6	31659677	31659677	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:31659677G>A	uc003nvy.2	-	7	724	c.645C>T	c.(643-645)acC>acT	p.T215T	ABHD16A_uc003nvx.2_5'UTR|ABHD16A_uc011dny.2_Silent_p.T182T|ABHD16A_uc010jtc.2_5'UTR|ABHD16A_uc011dnz.2_5'UTR	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	215						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GGCGCCCTAGGGTGTGCGCCA	0.627000														38			42		0	0	0.000509022	0	0
CCDC66	285331	broad.mit.edu	37	3	56649275	56649275	+	Silent	SNP	T	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:56649275T>C	uc003dhz.3	+	11	1773	c.1686T>C	c.(1684-1686)acT>acC	p.T562T	CCDC66_uc003dhy.3_Silent_p.T198T|CCDC66_uc003dhu.3_Silent_p.T528T|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_5'Flank	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	562										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GACATGACACTTCTAGACTGA	0.353000														42			7		0	0	0.000274275	0	0
EPHB1	2047	broad.mit.edu	37	3	134670831	134670831	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:134670831G>A	uc003eqt.3	+	2	1117	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	248	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGAATGGATGGTGCCTATTGG	0.572000														140			28		0	0	0.00127121	0	0
CD163	9332	broad.mit.edu	37	12	7635291	7635291	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:7635291G>A	uc001qsz.3	-	13	3323	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_uc001qta.3_Silent_p.F1065F|CD163_uc009zfw.2_Silent_p.F1098F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1065					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAATGCGACGAAAATGGCCA	0.423000														96			25		0	0	0.000720815	0	0
OTOGL	283310	broad.mit.edu	37	12	80704456	80704456	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:80704456G>A	uc001szd.3	+	28	3378	c.3372G>A	c.(3370-3372)aaG>aaA	p.K1124K		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTTATGCCAAGAAAGAATGCT	0.333000														72			11		0	0	0.00185496	0	0
ZNF812	729648	broad.mit.edu	37	19	9801609	9801609	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:9801609C>T	uc021uop.1	-	5	1216	c.570G>A	c.(568-570)gaG>gaA	p.E190E	ZNF812_uc010xkx.2_Silent_p.E86E	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CACAGAATTTCTCTCCAATGT	0.368000														15			6		0	0	0.00116845	0	0
ZNF292	23036	broad.mit.edu	37	6	87970414	87970414	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:87970414C>T	uc003plm.4	+	7	7108	c.7067C>T	c.(7066-7068)cCt>cTt	p.P2356L		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAAAATAAGCCTTATTCTCTG	0.353000														45			6		0	0	8.12818e-05	0	0
OR1F1	4992	broad.mit.edu	37	16	3255040	3255040	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:3255040C>T	uc010uwu.2	+	0	794	c.794C>T	c.(793-795)tCc>tTc	p.S265F		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCTCTGTCCTCCCACTCAGCT	0.478000														101			57		0	0	0.000781405	0	0
COL1A2	1278	broad.mit.edu	37	7	94038672	94038672	+	Silent	SNP	T	C	C	rs1800232		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:94038672T>C	uc003ung.1	+	16	1302	c.831T>C	c.(829-831)ggT>ggC	p.G277G	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	277					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCCTGCTGGTCCCGCCGGTC	0.468000										HNSCC(75;0.22)				86			17		0	0	0.000781405	0	0
ETAA1	54465	broad.mit.edu	37	2	67631561	67631562	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:67631561_67631562CC>TT	uc002sdz.1	+	4	1886_1887	c.1747_1748CC>TT	c.(1747-1749)ccc>TTc	p.P583F		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	583						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTGGAATGATCCCTCATTTGCC	0.361000														107			17		0	0	6.4e-05	0	0
abParts	0	broad.mit.edu	37	14	106691865	106691865	+	RNA	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:106691865C>T	uc021ser.1	-	1156		c.25128G>A								Parts of antibodies, mostly variable regions.																		GGACCCAGTTCATGCTATAGC	0.567000														75			20		0	0	0.000375601	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291321	141291321	+	Silent	SNP	G	A	A	rs147374365	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chrX:141291321G>A	uc022cfj.1	-	0	453	c.453C>T	c.(451-453)ttC>ttT	p.F151F	MAGEC2_uc004fbu.2_Silent_p.F151F	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	151	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGAGCAGGAACTCCACTA	0.483000										HNSCC(46;0.14)				52			39		0	0	0.00111076	0	0
RTEL1	51750	broad.mit.edu	37	20	62292792	62292792	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:62292792C>T	uc021wge.1	+	1	414	c.244C>T	c.(244-246)Ccg>Tcg	p.P82S	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.P82S|RTEL1_uc011abd.2_Missense_Mutation_p.P82S|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc002yfv.2_Missense_Mutation_p.P82S|RTEL1_uc011abe.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	82	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGAGCTTTTCCCGGATCGGGC	0.647000														24			6		0	0	8.12818e-05	0	0
PDE6B	5158	broad.mit.edu	37	4	650079	650079	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:650079C>T	uc003gap.3	+	7	1158	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	PDE6B_uc003gao.4_Nonsense_Mutation_p.Q369*|PDE6B_uc011buy.2_Nonsense_Mutation_p.Q90*|BC020343_uc003gaq.1_5'Flank	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	369	GAF 2.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GTTCAAATTTCAGGTATCTGT	0.353000														84			17		0	0	0.000958276	0	0
GNG4	2786	broad.mit.edu	37	1	235715522	235715522	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:235715522C>T	uc001hxe.4	-	3	569	c.115G>A	c.(115-117)Gcg>Acg	p.A39T	GNG4_uc009xfz.3_Missense_Mutation_p.A39T|GNG4_uc001hxh.4_Missense_Mutation_p.A39T	NM_001098722	NP_004476	P50150	GBG4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 4 (GNG4), transcript variant 1, mRNA.	39					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			AGGAGGTCCGCAGCTGCCTGG	0.562000														42			7		0	0	0.000157383	0	0
QRFP	347148	broad.mit.edu	37	9	133769068	133769068	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:133769068C>T	uc011mcb.2	-	0	158	c.158G>A	c.(157-159)tGg>tAg	p.W53*		NM_198180	NP_937823	P83859	OX26_HUMAN	Homo sapiens pyroglutamylated RFamide peptide (QRFP), mRNA.	53					locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding			cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		AGAGGAACCCCACACGGAGTG	0.652000														27			9		0	0	0.000274275	0	0
DSEL	92126	broad.mit.edu	37	18	65178797	65178797	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:65178797G>A	uc002lke.1	-	1	4303	c.3079C>T	c.(3079-3081)Cag>Tag	p.Q1027*	DSEL_uc021ulg.1_Nonsense_Mutation_p.Q1027*	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1017						integral to membrane	isomerase activity|sulfotransferase activity	p.Q1027fs*4(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAACTTCCTGAAAAAAATGA	0.408000														105			23		0	0	0.000586117	0	0
CCR4	1233	broad.mit.edu	37	3	32995815	32995815	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:32995815C>T	uc003cfg.1	+	1	1069	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	CCR4_uc021wuw.1_Missense_Mutation_p.P301S	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	301					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		p.P301T(2)		NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTGCCTTAATCCCATCATCTA	0.478000														60			9		0	0	0.000673444	0	0
ZNF700	90592	broad.mit.edu	37	19	12059187	12059187	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:12059187G>A	uc010xme.2	+	4	593	c.402G>A	c.(400-402)gaG>gaA	p.E134E	ZNF700_uc002msu.3_Silent_p.E116E|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ACTTCCAGGAGAAGAAAGCTT	0.403000														120			19		0	0	0.00152264	0	0
COPG1	22820	broad.mit.edu	37	3	128971792	128971793	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:128971792_128971793CC>TT	uc003els.3	+	4	417_418	c.317_318CC>TT	c.(316-318)acc>aTT	p.T106I	COPG1_uc010htb.3_Missense_Mutation_p.T12I	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.	106					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										ATCATTGTCACCAGCAGGCAAG	0.490000														46			7		0	0	6.4e-05	0	0
KRT6A	3853	broad.mit.edu	37	12	52885395	52885395	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:52885395C>T	uc001sam.3	-	1	875	c.666G>A	c.(664-666)agG>agA	p.R222R		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	222	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGCTGCCTCCTGAGGTTGT	0.567000														47			7		0	0	0.000157383	0	0
TTN	7273	broad.mit.edu	37	2	179473425	179473425	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:179473425C>T	uc021vsy.1	-	222	44834	c.44609G>A	c.(44608-44610)gGa>gAa	p.G14870E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G8565E|TTN_uc021vta.1_Missense_Mutation_p.G8498E|TTN_uc021vtb.1_Missense_Mutation_p.G8373E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15797	Fibronectin type-III 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTCTTTTCCTTCAATCAG	0.393000														38			9		0	0	0.000673444	0	0
HK3	3101	broad.mit.edu	37	5	176316452	176316452	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:176316452C>T	uc003mfa.3	-	7	936	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	HK3_uc003mez.3_5'UTR	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	282	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCCCAGCGCCCCATCATCG	0.642000														19			14		0	0	0.00185496	0	0
OPTC	26254	broad.mit.edu	37	1	203472079	203472079	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:203472079A>G	uc001gzu.1	+	5	886	c.770A>G	c.(769-771)aAc>aGc	p.N257S		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	257						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGTCAGACAACCTGCTGGAT	0.572000														53			11		0	0	0.00185496	0	0
POLR2E	5434	broad.mit.edu	37	19	1090091	1090091	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:1090091G>A	uc002lre.4	-	4	560	c.483C>T	c.(481-483)gcC>gcT	p.A161A	POLR2E_uc010xgf.2_Non-coding_Transcript	NM_002695	NP_002686	P19388	RPAB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide E, 25kDa (POLR2E), mRNA.	161					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATACTATCGGGCCAGCAGCT	0.667000														37			8		0	0	0.000274275	0	0
CD300A	11314	broad.mit.edu	37	17	72477440	72477440	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:72477440C>T	uc002jkv.3	+	4	962	c.641C>T	c.(640-642)tCa>tTa	p.S214L	CD300A_uc002jkw.3_Missense_Mutation_p.S101L|CD300A_uc010dfr.3_Missense_Mutation_p.S101L|CD300A_uc010dfs.3_Missense_Mutation_p.S18L	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	214					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						GGTGACCATTCAGAGCTGTCC	0.567000														72			12		0	0	0.000219431	0	0
NPVF	64111	broad.mit.edu	37	7	25268055	25268055	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:25268055C>T	uc003sxo.3	-	0	51	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	Homo sapiens neuropeptide VF precursor (NPVF), mRNA.	2					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GAAATAATTTCCATTTTGTCT	0.294000														43			9		0	0	0.000274275	0	0
CAPN5	726	broad.mit.edu	37	11	76831942	76831942	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:76831942C>T	uc009yup.3	+	10	1779	c.1594C>T	c.(1594-1596)Ccc>Tcc	p.P532S	CAPN5_uc001oxx.3_Missense_Mutation_p.P492S|CAPN5_uc009yuq.3_Missense_Mutation_p.P528S|CAPN5_uc001oxy.3_Missense_Mutation_p.P532S|CAPN5_uc001oya.3_Missense_Mutation_p.P54S	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	492	C2.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CACTGATGTGCCCTCCAACTG	0.622000														68			28		0	0	0.00178596	0	0
LPHN3	23284	broad.mit.edu	37	4	62363038	62363038	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:62363038C>T	uc010ihh.3	+	0	200	c.27C>T	c.(25-27)ttC>ttT	p.F9F	LPHN3_uc003hcq.4_Silent_p.F9F|LPHN3_uc010ihg.1_Silent_p.F9F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	9					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTAATTTTCATGATGCTCT	0.363000														36			8		0	0	0.000442599	0	0
COPG1	22820	broad.mit.edu	37	3	128976654	128976654	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:128976654C>T	uc003els.3	+	9	922	c.822C>T	c.(820-822)atC>atT	p.I274I	COPG1_uc010htb.3_Silent_p.I180I	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.	274					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										CCTCGGCCATCGTCAATCTGC	0.557000														110			21		0	0	0.00188189	0	0
SDK2	54549	broad.mit.edu	37	17	71364628	71364628	+	Silent	SNP	G	A	A	rs146100082	byFrequency	TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:71364628G>A	uc010dfm.3	-	36	5085	c.5085C>T	c.(5083-5085)gcC>gcT	p.A1695A	SDK2_uc002jjt.4_Silent_p.A835A|SDK2_uc010dfn.2_Silent_p.A1374A	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1695	Fibronectin type-III 11.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGACCATGTAGGCCGTGTAGC	0.632000														25			8		0	0	0.000442599	0	0
TECTA	7007	broad.mit.edu	37	11	121038915	121038915	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr11:121038915G>A	uc010rzo.2	+	17	5739	c.5739G>A	c.(5737-5739)aaG>aaA	p.K1913K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1913	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGTTGTGAAGCCTATGCTAA	0.428000														92			11		0	0	0.000308642	0	0
FGFR2	2263	broad.mit.edu	37	10	123263424	123263424	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:123263424G>A	uc021pzz.1	-	9	1966	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F	FGFR2_uc021pzv.1_Missense_Mutation_p.S328F|FGFR2_uc021pzw.1_Missense_Mutation_p.S325F|FGFR2_uc021pzx.1_Missense_Mutation_p.S351F|FGFR2_uc021pzy.1_Missense_Mutation_p.S441F|FGFR2_uc010qtl.2_Missense_Mutation_p.S324F|FGFR2_uc010qtm.2_Missense_Mutation_p.S323F|FGFR2_uc021qaa.1_Missense_Mutation_p.S441F|FGFR2_uc021qab.1_Missense_Mutation_p.S352F|FGFR2_uc021qac.1_Missense_Mutation_p.S369F|FGFR2_uc001lfg.4_Missense_Mutation_p.S48F	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	440					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CGGGGTGTTGGAGTTCATGGA	0.537000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					29			7		0	0	8.12818e-05	0	0
PIWIL1	9271	broad.mit.edu	37	12	130832683	130832683	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:130832683G>A	uc001uik.3	+	6	960	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	PIWIL1_uc001uij.2_Missense_Mutation_p.R230Q	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	230					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CAAATTGGACGAAATTATTAT	0.333000														47			7		0	0	0.000157383	0	0
C18orf26	284254	broad.mit.edu	37	18	52265162	52265162	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr18:52265162G>A	uc002lfq.1	+	2	465	c.419G>A	c.(418-420)gGa>gAa	p.G140E		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	140						integral to membrane		p.G140E(2)		endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		AATAACAAAGGATCGGCCAAT	0.438000														53			15		0	0	0.000422831	0	0
SEC14L5	9717	broad.mit.edu	37	16	5041926	5041926	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr16:5041926G>A	uc002cye.2	+	5	742	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	188						integral to membrane|intracellular	transporter activity	p.R187H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCCAGTCCGTGAGGAGGATGC	0.662000														7			6		0	0	8.12818e-05	0	0
C1orf173	127254	broad.mit.edu	37	1	75078372	75078372	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:75078372G>A	uc001dgg.3	-	8	1341	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.S168S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	374										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCCAAGCCTGGAACCTTTCC	0.463000														38			14		0	0	0.000219431	0	0
SEPT14	346288	broad.mit.edu	37	7	55863612	55863612	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:55863612C>T	uc003tqz.2	-	9	1410	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	431					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACTATTATTTCTTACGATGTT	0.373000														79			15		0	0	0.000422831	0	0
AQPEP	206338	broad.mit.edu	37	5	115336309	115336309	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:115336309C>T	uc003kro.3	+	8	1765	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	534					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AAGACATTTTCCTACTCAAAC	0.343000														68			7		0	0	0.000274275	0	0
LRFN2	57497	broad.mit.edu	37	6	40359793	40359793	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:40359793C>T	uc003oph.1	-	2	2724	c.2259G>A	c.(2257-2259)acG>acA	p.T753T		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	753						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGCGCTTCGTCCAGATGT	0.642000														54			9		0	0	0.000442599	0	0
GPHB5	122876	broad.mit.edu	37	14	63784486	63784486	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:63784486G>A	uc021rud.1	-	1	135	c.78C>T	c.(76-78)tcC>tcT	p.S26S		NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN	Homo sapiens glycoprotein hormone beta 5 (GPHB5), mRNA.	26						extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		GGTTCCCACTGGAGGCACCGA	0.612000														40			9		0	0	0.000308642	0	0
TNN	63923	broad.mit.edu	37	1	175052944	175052944	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:175052944G>A	uc001gkl.1	+	4	1220	c.1107G>A	c.(1105-1107)gtG>gtA	p.V369V	TNN_uc010pmx.1_Silent_p.V369V	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	369	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCCTTGACGTGGAGTGGGAAA	0.567000														38			9		0	0	0.00136819	0	0
abParts	0	broad.mit.edu	37	14	107078801	107078801	+	RNA	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr14:107078801C>T	uc021ser.1	-	134		c.5958G>A								Parts of antibodies, mostly variable regions.																		CCTCCAAATCCAGTCCATAGT	0.527000														48			6		0	0	0.00116845	0	0
COX6B1	1340	broad.mit.edu	37	19	36145521	36145521	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr19:36145521C>T	uc002oav.3	+	2	347	c.155C>T	c.(154-156)tCt>tTt	p.S52F		NM_001863	NP_001854	P14854	CX6B1_HUMAN	Homo sapiens cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) (COX6B1), nuclear gene encoding mitochondrial protein, mRNA.	52					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCGATATCTCTGTGTGCGAA	0.552000														70			16		0	0	0.00074312	0	0
FNDC3B	64778	broad.mit.edu	37	3	172028654	172028654	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:172028654C>A	uc003fhy.3	+	10	1409	c.1237C>A	c.(1237-1239)Ctt>Att	p.L413I	FNDC3B_uc003fhz.4_Missense_Mutation_p.L413I|FNDC3B_uc003fia.3_Missense_Mutation_p.L344I	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	413	Fibronectin type-III 2.					endoplasmic reticulum|integral to membrane		p.L413I(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CACCAACTACCTTTTAGAGTG	0.318000														146			10		0.00136819	0.00744134	0.00136819	1	0
SPHKAP	80309	broad.mit.edu	37	2	228882461	228882461	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:228882461G>T	uc002vpq.2	-	6	3156	c.3109C>A	c.(3109-3111)Ctt>Att	p.L1037I	SPHKAP_uc002vpp.2_Missense_Mutation_p.L1037I|SPHKAP_uc010zlx.1_Missense_Mutation_p.L1037I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1037						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTGGCAAAAAGATTGACAGAA	0.502000														99			17		2.4624e-09	1.3616e-08	0.00121646	1	0
ESYT3	83850	broad.mit.edu	37	3	138184246	138184246	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:138184246G>A	uc003esk.3	+	9	1378	c.1152G>A	c.(1150-1152)agG>agA	p.R384R	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	384	C2 1.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ATACCGACAGGGATGACTTCC	0.597000														109			25		0	0	0.001512	0	0
DSTYK	25778	broad.mit.edu	37	1	205156602	205156602	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:205156602C>T	uc001hbw.3	-	1	662	c.598G>A	c.(598-600)Gat>Aat	p.D200N	DSTYK_uc001hbx.3_Missense_Mutation_p.D200N	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	200						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TGAGCAGCATCCTCATTGTTC	0.478000														25			8		0	0	0.000274275	0	0
CALB1	793	broad.mit.edu	37	8	91094259	91094259	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr8:91094259C>G	uc003yel.1	-	1	333	c.151G>C	c.(151-153)Gga>Cga	p.G51R	CALB1_uc003yem.1_Non-coding_Transcript|CALB1_uc011lge.1_5'Flank	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	51						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CCTACCAATCCAGCCTTCTTT	0.453000														178			11		0	0	0.000219431	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307484	39307484	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:39307484T>C	uc021wwc.1	-	1	653	c.613A>G	c.(613-615)Aat>Gat	p.N205D	CX3CR1_uc021wwa.1_Missense_Mutation_p.N173D|CX3CR1_uc021wwb.1_Missense_Mutation_p.N173D|CX3CR1_uc003cjl.3_Missense_Mutation_p.N173D|CX3CR1_uc021wwd.1_Missense_Mutation_p.N173D	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	173					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGGCATTCATTTTCTTTCTGC	0.547000														73			18		0	0	0.000958276	0	0
PCDH18	54510	broad.mit.edu	37	4	138452728	138452728	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:138452728T>A	uc003ihe.4	-	0	902	c.515A>T	c.(514-516)cAc>cTc	p.H172L	PCDH18_uc003ihf.4_Missense_Mutation_p.H165L|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_5'UTR|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	172	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGAGTATGTGTGGAGGGAATT	0.458000														37			6		0	0	8.12818e-05	0	0
C15orf2	23742	broad.mit.edu	37	15	24924064	24924064	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:24924064G>A	uc001ywo.3	+	0	3524	c.3050G>A	c.(3049-3051)gGt>gAt	p.G1017D		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1017					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)		CCTATGGATGGTGGGAGCATT	0.537000														29			4		0	0	0.00024832	0	0
APOB	338	broad.mit.edu	37	2	21245739	21245739	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr2:21245739G>A	uc002red.3	-	17	2908	c.2780C>T	c.(2779-2781)cCt>cTt	p.P927L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	927	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTTGGGGAAGGAATGATAAA	0.498000														219			37		0	0	0.00148497	0	0
CRHR1	1394	broad.mit.edu	37	17	43910564	43910564	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:43910564C>T	uc010dap.3	+	9	1183	c.918C>T	c.(916-918)atC>atT	p.I306I	CRHR1_uc010wjx.2_Silent_p.I102I|CRHR1_uc002ijp.3_Silent_p.I176I|CRHR1_uc002ijm.3_Silent_p.I277I|CRHR1_uc002ijn.3_Silent_p.I237I|CRHR1_uc010dar.3_Silent_p.I277I|CRHR1_uc010dao.3_Silent_p.I176I|CRHR1_uc010daq.3_Silent_p.I102I|CRHR1_uc021tyu.1_Silent_p.I102I	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	306					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GCCCCATGATCCTGGTCCTGC	0.592000														51			10		0	0	0.000978159	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133948566	133948566	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:133948566G>A	uc001lkx.4	+	3	871	c.871G>A	c.(871-873)Gat>Aat	p.D291N		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGATGAAAAAGATGCCCGGCG	0.498000														30			5		0	0	0.00116845	0	0
A2M	2	broad.mit.edu	37	12	9225293	9225293	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:9225293C>T	uc001qvk.1	-	29	4044	c.3931G>A	c.(3931-3933)Gaa>Aaa	p.E1311K	A2M_uc009zgk.1_Missense_Mutation_p.E1161K	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1311					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.G1310W(2)|p.G1310G(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ATGCTGTATTCCCCAGGCAGC	0.517000														126			36		0	0	0.00195071	0	0
MYH2	4620	broad.mit.edu	37	17	10430078	10430078	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:10430078G>A	uc010coi.3	-	29	4153	c.4025C>T	c.(4024-4026)tCc>tTc	p.S1342F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.S1342F|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1342					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTCGTGGCGGGAAGACTGCAG	0.522000														43			9		0	0	0.000673444	0	0
ANLN	54443	broad.mit.edu	37	7	36450702	36450702	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr7:36450702G>A	uc003tff.3	+	6	1526	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	ANLN_uc011kaz.2_Missense_Mutation_p.R353Q|ANLN_uc003tfg.3_Missense_Mutation_p.R441Q|ANLN_uc010kxe.3_Missense_Mutation_p.R441Q	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	441	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTTCGTGGCCGATTTGACAAG	0.378000														48			15		0	0	0.000566183	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184367982	184367982	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr4:184367982C>T	uc003ivp.1	+	2	1307	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	CDKN2AIP_uc003ivq.1_Missense_Mutation_p.S127F	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	Homo sapiens CDKN2A interacting protein (CDKN2AIP), mRNA.	382	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		ACCAGTGGATCTCTGGTTTCC	0.473000														52			7		0	0	8.12818e-05	0	0
JMY	133746	broad.mit.edu	37	5	78610164	78610164	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:78610164C>T	uc003kfx.4	+	8	2698	c.2149C>T	c.(2149-2151)Caa>Taa	p.Q717*	JMY_uc003kfw.1_Nonsense_Mutation_p.Q363*	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	717					'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TCCTGTTCTCCAAGAGGATCA	0.443000														36			16		0	0	0.000422831	0	0
NXT1	29107	broad.mit.edu	37	20	23334889	23334889	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:23334889C>T	uc021wbj.1	+	0	211	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	NXT1_uc002wsx.1_Nonsense_Mutation_p.Q71*	NM_013248	NP_037380	Q9UKK6	NXT1_HUMAN	Homo sapiens NTF2-like export factor 1 (NXT1), mRNA.	71	NTF2.					cytoplasm|nuclear pore				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CAGCGAGTTCCAAATCAGCGT	0.502000														43			13		0	0	0.00185496	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536519	90536519	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:90536519G>A	uc010mqi.3	+	3	1726	c.1697G>A	c.(1696-1698)gGa>gAa	p.G566E	FAM75C1_uc004apq.4_Missense_Mutation_p.G549E	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AGTGACTCAGGAAGTGATTTA	0.517000														81			12		0	0	0.000566183	0	0
TPCN1	53373	broad.mit.edu	37	12	113704081	113704081	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr12:113704081G>A	uc001tux.3	+	4	724	c.550G>A	c.(550-552)Gag>Aag	p.E184K	TPCN1_uc001tuw.3_Missense_Mutation_p.E112K|TPCN1_uc010syt.1_Missense_Mutation_p.E44K	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	112						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTACCTGATGGAGCTGGCCAC	0.622000														216			46		0	0	0.000781405	0	0
IPW	3653	broad.mit.edu	37	15	25420017	25420017	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:25420017G>A	uc001yyp.1	+	7		c.631_splice	c.e7+1		IPW_uc001yys.1_Splice_Site|SNORD115-3_uc001yyt.1_5'Flank|SNORD115-4_uc001yyu.1_5'Flank					Homo sapiens imprinted in Prader-Willi syndrome (non-protein coding) (IPW), non-coding RNA.																		ACTGAGCCTTGGTGAGCCCAT	0.527000														48			13		0	0	0.00136819	0	0
KIAA1199	57214	broad.mit.edu	37	15	81187419	81187419	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr15:81187419G>A	uc002bfw.1	+	9	1435	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K	KIAA1199_uc010unn.1_Missense_Mutation_p.R392K	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	392										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GACCGGGGCAGAGCCTGCCGG	0.547000														49			5		0	0	0.000602214	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409968	19409968	+	RNA	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr13:19409968C>T	uc010tcj.1	-	0		c.36142G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		gggtgtttctcggagaggggg	0.383000														10			6		0	0	8.12818e-05	0	0
DIDO1	11083	broad.mit.edu	37	20	61542525	61542525	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:61542525T>C	uc002ydr.2	-	2	752	c.440A>G	c.(439-441)gAc>gGc	p.D147G	DIDO1_uc002yds.2_Missense_Mutation_p.D147G|DIDO1_uc002ydt.2_Missense_Mutation_p.D147G|DIDO1_uc002ydu.2_Missense_Mutation_p.D147G|DIDO1_uc002ydv.2_Missense_Mutation_p.D147G|DIDO1_uc002ydw.2_Missense_Mutation_p.D147G|DIDO1_uc002ydx.2_Missense_Mutation_p.D147G|DIDO1_uc011aao.1_Missense_Mutation_p.D147G	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	147					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCATCGTGGTCATCCCCTCC	0.577000														46			5		0	0	0.000602214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725108	140725108	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr5:140725108C>T	uc003ljm.2	+	0	1508	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.S503F	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	505	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCTGTCCTCCTTCGTCTCT	0.542000														54			13		0	0	0.000219431	0	0
ELFN2	114794	broad.mit.edu	37	22	37770744	37770744	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr22:37770744G>A	uc003asq.4	-	2	1617	c.831C>T	c.(829-831)ccC>ccT	p.P277P	ELFN2_uc021wph.1_Silent_p.P277P	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	277						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGATCTCGTCGGGGTTGAAGC	0.692000														33			16		0	0	0.000308642	0	0
YWHAB	7529	broad.mit.edu	37	20	43532690	43532690	+	Silent	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr20:43532690C>T	uc002xmt.3	+	3	639	c.357C>T	c.(355-357)ttC>ttT	p.F119F	YWHAB_uc002xmu.3_Silent_p.F119F	NM_003404	NP_647539	P31946	1433B_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide (YWHAB), transcript variant 1, mRNA.	119					Ras protein signal transduction|activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				GTAAGGTGTTCTACTTGAAAA	0.318000														69			14		0	0	0.000219431	0	0
LRRC48	83450	broad.mit.edu	37	17	17896134	17896134	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr17:17896134C>T	uc021trj.1	+	6	879	c.500C>T	c.(499-501)cCt>cTt	p.P167L	LRRC48_uc010vxe.2_Missense_Mutation_p.P167L|LRRC48_uc021tri.1_Missense_Mutation_p.P167L|LRRC48_uc021trk.1_Missense_Mutation_p.P167L	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	167	LRRCT.					cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCTAGGAACCCTATCTCTGAG	0.537000														22			9		0	0	0.000442599	0	0
TFEB	7942	broad.mit.edu	37	6	41654895	41654895	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:41654895C>T	uc021yzl.1	-	5	942	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	TFEB_uc003oqs.1_Missense_Mutation_p.R247Q|TFEB_uc003oqt.1_Missense_Mutation_p.R247Q|TFEB_uc003oqu.1_Missense_Mutation_p.R247Q|TFEB_uc003oqv.1_Missense_Mutation_p.R247Q|TFEB_uc003oqr.1_Missense_Mutation_p.R162Q	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	247	Leucine-zipper.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GTTGAACCTTCGTCTCCTTTC	0.557000			T	ALPHA	renal (childhood epithelioid)									36			24		0	0	0.00127121	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762678	24762678	+	Silent	SNP	G	A	A			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr10:24762678G>A	uc001iru.4	+	5	1771	c.1368G>A	c.(1366-1368)agG>agA	p.R456R	KIAA1217_uc001irs.3_Silent_p.R376R|KIAA1217_uc001irt.4_Silent_p.R456R|KIAA1217_uc010qcy.2_Silent_p.R456R|KIAA1217_uc010qcz.2_Silent_p.R456R|KIAA1217_uc001irv.1_Silent_p.R306R|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.R174R|KIAA1217_uc001irz.3_Silent_p.R174R|KIAA1217_uc001irx.3_Silent_p.R174R|KIAA1217_uc001iry.3_Silent_p.R174R	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	456					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAAATCAAGGAAATATCCGG	0.502000														47			12		0	0	0.00185496	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561324	145561324	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:145561324C>T	uc001eob.1	+	9	1120	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	ANKRD35_uc010oyx.1_Nonsense_Mutation_p.R181*	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	338										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAACCAGATTCGAGAGCAGGC	0.577000														17			7		0	0	0.000157383	0	0
SCN10A	6336	broad.mit.edu	37	3	38755548	38755548	+	Silent	SNP	C	T	T	rs147376215		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr3:38755548C>T	uc003ciq.3	-	20	3705	c.3705G>A	c.(3703-3705)gcG>gcA	p.A1235A		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1235					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGAATCTTCGCTGTGAGAC	0.537000														60			11		0	0	0.00136819	0	0
MIR205HG	642587	broad.mit.edu	37	1	209605637	209605648	+	In_Frame_Del	DEL	AGCAGCAGCAGC	-	-	rs71812884		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr1:209605637_209605648delAGCAGCAGCAGC	uc009xcn.3	+	3	635_646	c.252_263delAGCAGCAGCAGC	c.(250-264)gtagcagcagcagca>gta	p.AAAA93del		NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		ccaccaccgTagcagcagcagcagcagcagca	0.561													---	10	---	---	8	---					
ABHD16A	7920	broad.mit.edu	37	6	31655435	31655435	+	Frame_Shift_Del	DEL	G	-	-			TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr6:31655435delG	uc003nvy.2	-	17	1609	c.1530delC	c.(1528-1530)gacfs	p.D510fs	ABHD16A_uc003nvx.2_Frame_Shift_Del_p.D291fs|ABHD16A_uc011dny.2_Frame_Shift_Del_p.D477fs|ABHD16A_uc010jtc.2_Frame_Shift_Del_p.D291fs|ABHD16A_uc011dnz.2_Frame_Shift_Del_p.D291fs	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	510						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TCCAGGGGAAGTCGGGCCCGT	0.592													---	182	---	---	114	---					
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	-	-	rs34222232		TCGA-ER-A19N-06A-11D-A197-08	TCGA-ER-A19N-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2af0449e-4996-4cf8-aa87-adfd9166430d	c679b389-8d6c-43e9-b10f-a24d8d2f04cd	g.chr9:139277995_139277997delGCT	uc004chh.3	-	14	1633_1635	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	542					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S542delS(4)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.690													---	4	---	---	2	---