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
KCNQ4	9132	broad.mit.edu	37	1	41289931	41289931	+	Splice_Site	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:41289931G>T	uc001cgh.2	+	9	1374	c.1292_splice	c.e9+1	p.S431_splice	KCNQ4_uc001cgi.2_Intron	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	431					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CTGGGGAAAGGTAGGGGCCCC	0.667												
ZNHIT6	54680	broad.mit.edu	37	1	86172017	86172017	+	Missense_Mutation	SNP	G	G	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:86172017G>C	uc001dlh.3	-	2	893	c.744C>G	c.(742-744)caC>caG	p.H248Q	ZNHIT6_uc010osc.2_Missense_Mutation_p.H209Q	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	248					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GTTCTGCTTTGTGTTTCTTTA	0.353												
GPR61	83873	broad.mit.edu	37	1	110086728	110086728	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:110086728C>A	uc021orh.1	+	0	1084	c.1084C>A	c.(1084-1086)Cca>Aca	p.P362T	GPR61_uc001dxy.2_Missense_Mutation_p.P362T	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	362						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTTCTTCAAGCCAGCTCCAGA	0.557												
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:152681693_152681698delTGTGGT	uc001fak.2	+	0	171_176	c.142_147delTGTGGT	c.(142-147)tgtggtdel	p.CG48del		NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	Homo sapiens late cornified envelope 4A (LCE4A), mRNA.	48	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578												
S100A7A	338324	broad.mit.edu	37	1	153391619	153391619	+	Splice_Site	SNP	A	A	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:153391619A>T	uc001fbt.1	+	3	199	c.142_splice	c.e3-2	p.D48_splice		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	48	EF-hand 1.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTCTTCACAGGACAAAAAG	0.408												
OLFML2B	25903	broad.mit.edu	37	1	161967994	161967994	+	Silent	SNP	G	G	A	rs34123330	byFrequency	TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:161967994G>A	uc010pkq.2	-	5	1522	c.1098C>T	c.(1096-1098)aaC>aaT	p.N366N	OLFML2B_uc001gbu.3_Silent_p.N365N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	365								p.N365N(4)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGGTCCGAGCGTTCAGGTCGC	0.612												
CEP350	9857	broad.mit.edu	37	1	180053197	180053197	+	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:180053197C>G	uc001gnt.3	+	30	6552	c.6169C>G	c.(6169-6171)Ctg>Gtg	p.L2057V	CEP350_uc009wxl.2_Missense_Mutation_p.L2056V|CEP350_uc001gnv.3_Missense_Mutation_p.L192V|CEP350_uc001gnw.1_5'Flank	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2057						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATCAGAGCTCTGAAGGATGA	0.358												
DSTYK	25778	broad.mit.edu	37	1	205138447	205138447	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:205138447G>A	uc001hbw.3	-	2	1232	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	DSTYK_uc001hbx.3_Missense_Mutation_p.R390C|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	390						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						TATTCCAGACGTTTGGGAGTG	0.458												
USH2A	7399	broad.mit.edu	37	1	216138718	216138718	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:216138718C>T	uc001hku.1	-	36	7448	c.7061G>A	c.(7060-7062)cGc>cAc	p.R2354H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2354	Fibronectin type-III 10.		R -> H (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R2354H(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATTAGGGCGAAAAGGTGC	0.403										HNSCC(13;0.011)		
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
SFTPD	6441	broad.mit.edu	37	10	81701253	81701253	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr10:81701253C>T	uc001kbh.3	-	5	611	c.568G>A	c.(568-570)Ggt>Agt	p.G190S		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	190	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCTGGGGACCCATGGCTCCA	0.507												
MUC5B	727897	broad.mit.edu	37	11	1270908	1270908	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:1270908G>A	uc001lta.3	+	30	12857	c.12798G>A	c.(12796-12798)acG>acA	p.T4266T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4266	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGGATCCACGGCCACCCCGT	0.647												
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:4409705delT	uc001lyy.1	-	3	673	c.560delA	c.(559-561)aacfs	p.N187fs		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	187					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483												
OR52A1	23538	broad.mit.edu	37	11	5172692	5172692	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:5172692C>T	uc010qyy.2	-	0	908	c.908G>A	c.(907-909)cGc>cAc	p.R303H		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	303					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R303C(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACATGAATGCGAATCTGTGT	0.358												
PDE3B	5140	broad.mit.edu	37	11	14825558	14825558	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:14825558C>A	uc001mln.3	+	4	1837	c.1484C>A	c.(1483-1485)tCt>tAt	p.S495Y	PDE3B_uc010rcr.2_Missense_Mutation_p.S444Y	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	495					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGGTCATCTTCTGTATCACTG	0.358												
OR4A47	403253	broad.mit.edu	37	11	48511019	48511019	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:48511019C>A	uc010rhx.2	+	0	675	c.675C>A	c.(673-675)aaC>aaA	p.N225K		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTTTAAAGAACCTTAGTCAGA	0.438												
OR4A5	81318	broad.mit.edu	37	11	51412194	51412194	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:51412194C>A	uc001nhi.2	-	0	255	c.202G>T	c.(202-204)Gat>Tat	p.D68Y		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TATGCAGCATCTATAAATGAC	0.438												
OR8I2	120586	broad.mit.edu	37	11	55861592	55861592	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:55861592C>T	uc010rix.2	+	0	809	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTGACCCAGGCGCAGGTGGCA	0.453												
FAT3	120114	broad.mit.edu	37	11	92532113	92532113	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:92532113C>T	uc001pdj.4	+	8	5951	c.5934C>T	c.(5932-5934)agC>agT	p.S1978S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1978	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATGGACAGCGGCCTCCACT	0.433										TCGA Ovarian(4;0.039)		
DDX12P	440081	broad.mit.edu	37	12	9572801	9572801	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:9572801C>T	uc021qut.1	-	11		c.2338G>A			DDX12P_uc001qvx.4_Non-coding_Transcript|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.									p.A751A(2)									ACCTGGAATACGCCAGCAGCA	0.557												
CLEC1A	51267	broad.mit.edu	37	12	10233990	10233990	+	Silent	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:10233990G>T	uc001qxb.3	-	2	321	c.237C>A	c.(235-237)tcC>tcA	p.S79S	CLEC1A_uc001qxd.3_Silent_p.S36S|CLEC1A_uc010sgx.2_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	79					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GACCAGTATTGGAGAGCTGGT	0.383												
PRB1	5542	broad.mit.edu	37	12	11506753	11506753	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:11506753C>A	uc001qzw.1	-	2	321	c.284G>T	c.(283-285)gGa>gTa	p.G95V	PRB1_uc001qzu.1_Missense_Mutation_p.G95V|PRB1_uc001qzv.1_Missense_Mutation_p.G95V	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	95	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGTTTTCCTGGAGGAGA	0.607												
ATP2B1	490	broad.mit.edu	37	12	90024361	90024361	+	Silent	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:90024361T>C	uc001tbh.3	-	4	1030	c.849A>G	c.(847-849)caA>caG	p.Q283Q	ATP2B1_uc001tbg.3_Silent_p.Q283Q	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	283					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TAATTCCAGTTTGAGAATTTA	0.328												
IGF1	3479	broad.mit.edu	37	12	102869429	102869429	+	Missense_Mutation	SNP	A	A	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:102869429A>C	uc001tjp.4	-	1	431	c.212T>G	c.(211-213)tTt>tGt	p.F71C	IGF1_uc001tjn.2_Missense_Mutation_p.F55C|IGF1_uc001tjm.2_Missense_Mutation_p.F71C|IGF1_uc001tjo.2_Missense_Mutation_p.F71C	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	71	B.				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ACTGAAATAAAAGCCCCTGTC	0.537												
ANAPC7	51434	broad.mit.edu	37	12	110825638	110825638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:110825638G>A	uc001tqo.2	-	4	683	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	ANAPC7_uc001tqp.4_Nonsense_Mutation_p.Q228*	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GGCACGGTTTGGATCACATTC	0.463												
PTPN11	5781	broad.mit.edu	37	12	112926900	112926900	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:112926900C>A	uc001ttx.3	+	12	1900	c.1520C>A	c.(1519-1521)aCa>aAa	p.T507K		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	511	Tyrosine-protein phosphatase.		G -> A (in JMML).|G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.T507K(4)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATGGTCCAGACAGAAGCACAG	0.478			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome			
RBM19	9904	broad.mit.edu	37	12	114383718	114383718	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:114383718C>A	uc009zwi.2	-	12	1685	c.1541G>T	c.(1540-1542)tGg>tTg	p.W514L	RBM19_uc001tvn.4_Missense_Mutation_p.W514L|RBM19_uc001tvm.3_Missense_Mutation_p.W514L	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	514					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TAGTGTGTTCCAGTTGTGAGA	0.542												
TCTN2	79867	broad.mit.edu	37	12	124175182	124175182	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:124175182G>A	uc001ufp.3	+	7	1122	c.994G>A	c.(994-996)Ggt>Agt	p.G332S	TCTN2_uc009zya.3_Missense_Mutation_p.G331S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	332					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		AGAACGAGATGGTATTATCAA	0.388												
NCOR2	9612	broad.mit.edu	37	12	124915195	124915195	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:124915195delG	uc021rga.1	-	8	1138	c.1021delC	c.(1021-1023)cgcfs	p.R341fs	NCOR2_uc021rgb.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbb.2_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbc.2_Frame_Shift_Del_p.R341fs|NCOR2_uc021rgc.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tba.2_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugk.1_Frame_Shift_Del_p.R341fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	341					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGCTGCTTGCGGATCTCAGGG	0.672												
HSPH1	10808	broad.mit.edu	37	13	31713139	31713139	+	Missense_Mutation	SNP	T	T	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr13:31713139T>A	uc001utl.3	-	14	2363	c.2092A>T	c.(2092-2094)Atg>Ttg	p.M698L	HSPH1_uc001utj.3_Missense_Mutation_p.M696L|HSPH1_uc001utk.3_Missense_Mutation_p.M652L|HSPH1_uc010aaw.3_Missense_Mutation_p.M655L|HSPH1_uc010tds.2_Missense_Mutation_p.M620L	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	696					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGACCTACCATTAATTCTTCC	0.313												
CCDC70	83446	broad.mit.edu	37	13	52439731	52439731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr13:52439731C>T	uc010tgr.1	-	0		c.489G>A			CCDC70_uc001vfu.4_Nonsense_Mutation_p.R73*|CCDC70_uc021rjv.1_Nonsense_Mutation_p.R73*			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GTGGACTTTCCGAGGCAAGAT	0.458												
AP5M1	55745	broad.mit.edu	37	14	57741370	57741370	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr14:57741370C>A	uc001xcv.3	+	1	910	c.483C>A	c.(481-483)gaC>gaA	p.D161E	AP5M1_uc001xcu.4_Missense_Mutation_p.D161E|AP5M1_uc010tri.2_Intron|AP5M1_uc010trj.2_Missense_Mutation_p.D58E	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Homo sapiens MU-2/AP1M2 domain containing, death-inducing (MUDENG), transcript variant 1, mRNA.	161					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											AGTTGCCTGACTTGCTTCTGC	0.368												
BCL11B	64919	broad.mit.edu	37	14	99641920	99641920	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr14:99641920G>A	uc001yga.3	-	3	1520	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	BCL11B_uc001ygb.3_Missense_Mutation_p.P347L	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	418						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTGCGGGGGCGGCGTGCCGCC	0.687			T	TLX3	T-ALL							
GABRB3	2562	broad.mit.edu	37	15	26828530	26828530	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:26828530G>A	uc001zbb.3	-	5	764	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F	GABRB3_uc021sgg.1_Missense_Mutation_p.L94F|GABRB3_uc021sgh.1_Missense_Mutation_p.L80F|GABRB3_uc001zaz.3_Missense_Mutation_p.L165F|GABRB3_uc001zba.3_Missense_Mutation_p.L165F	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	165					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TATCTCCTGAGGTCCATCATG	0.453												
ZNF770	54989	broad.mit.edu	37	15	35274803	35274803	+	Missense_Mutation	SNP	G	G	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:35274803G>C	uc001ziw.3	-	2	1187	c.833C>G	c.(832-834)tCt>tGt	p.S278C	ZNF770_uc021siy.1_Missense_Mutation_p.S278C	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S278T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTCTCCTCAGATTCACCAAT	0.388												
UACA	55075	broad.mit.edu	37	15	70957092	70957092	+	Missense_Mutation	SNP	A	A	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:70957092A>T	uc002asr.3	-	16	4126	c.4022T>A	c.(4021-4023)cTc>cAc	p.L1341H	UACA_uc010uke.2_Missense_Mutation_p.L1232H|UACA_uc002asq.3_Missense_Mutation_p.L1328H	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1341						cytoskeleton|extracellular region		p.Q1341H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGTGTAGGTGAGTTGGGAAAG	0.433												
DNM1P47	100216544	broad.mit.edu	37	15	102292837	102292837	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:102292837G>A	uc010usj.2	+	4	484	c.425_splice	c.e4+1	p.R142_splice	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.?(1)									CACTCGTGGAGGCGTCGGCAG	0.602												
C16orf45	89927	broad.mit.edu	37	16	15609227	15609227	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr16:15609227G>A	uc002ddo.3	+	1	358	c.172G>A	c.(172-174)Gca>Aca	p.A58T	C16orf45_uc002ddp.3_Missense_Mutation_p.A41T	NM_033201	NP_149978	Q96MC5	CP045_HUMAN	Homo sapiens chromosome 16 open reading frame 45 (C16orf45), transcript variant 1, mRNA.	58										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GCTGGAGATGGCAAAAATTCA	0.527												
ATP2A1	487	broad.mit.edu	37	16	28913648	28913648	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr16:28913648G>A	uc002dro.1	+	16	2649	c.2465G>A	c.(2464-2466)cGg>cAg	p.R822Q	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R822Q|ATP2A1_uc002drp.1_Missense_Mutation_p.R697Q	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	822					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CGCCCCCCCCGGAGCCCCAAG	0.657												
DHRS7C	201140	broad.mit.edu	37	17	9684903	9684903	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:9684903G>A	uc010vvb.2	-	1	176	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	DHRS7C_uc010cof.3_Missense_Mutation_p.R55W	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	55						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGGAACACCCGAGCACACTCT	0.547												
MAP2K3	5606	broad.mit.edu	37	17	21206533	21206533	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:21206533G>A	uc002gys.3	+	6	820	c.555G>A	c.(553-555)tcG>tcA	p.S185S	MAP2K3_uc002gyt.3_Silent_p.S156S|MAP2K3_uc021tsq.1_Silent_p.S156S|MAP2K3_uc021tsr.1_Silent_p.S156S	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	185	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|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|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCAAGCTGTCGGTGATCCACA	0.622												
MYO18A	399687	broad.mit.edu	37	17	27422043	27422043	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:27422043C>A	uc002hdt.1	-	28	4578	c.4420G>T	c.(4420-4422)Gcc>Tcc	p.A1474S	MYO18A_uc010wbc.1_Missense_Mutation_p.A1016S|MYO18A_uc002hds.2_Missense_Mutation_p.A1016S|MYO18A_uc010csa.1_Missense_Mutation_p.A1474S|MYO18A_uc002hdu.1_Missense_Mutation_p.A1474S|MYO18A_uc010wbd.1_Missense_Mutation_p.A1143S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1474					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCCGCTGGGCCTCCTCATGC	0.627												
IKZF3	22806	broad.mit.edu	37	17	37922611	37922611	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:37922611C>T	uc002hsu.3	-	7	1024	c.962G>A	c.(961-963)cGc>cAc	p.R321H	IKZF3_uc002htd.3_Missense_Mutation_p.R287H|IKZF3_uc010cwd.3_Missense_Mutation_p.R178H|IKZF3_uc002hsv.3_Missense_Mutation_p.R248H|IKZF3_uc010cwe.3_Missense_Mutation_p.R187H|IKZF3_uc010cwf.3_Missense_Mutation_p.R139H|IKZF3_uc010cwg.3_Missense_Mutation_p.R100H|IKZF3_uc002hsw.3_Missense_Mutation_p.R282H|IKZF3_uc002hsx.3_Missense_Mutation_p.R265H|IKZF3_uc002hsy.3_Missense_Mutation_p.R282H|IKZF3_uc002hsz.3_Missense_Mutation_p.R226H|IKZF3_uc002hta.3_Missense_Mutation_p.R243H|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.R234H|IKZF3_uc002htc.3_Missense_Mutation_p.R74H|IKZF3_uc010wel.2_Missense_Mutation_p.R74H	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	321				R -> C (in Ref. 1; AAF13493 and 2; CAC80427/CAC80428/CAC80429/CAC80430/ CAC80431).	B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GACCAAGGGGCGCAGGGCTTC	0.547												
RPTOR	57521	broad.mit.edu	37	17	78727945	78727945	+	Missense_Mutation	SNP	A	A	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:78727945A>C	uc002jyt.1	+	5	1595	c.790A>C	c.(790-792)Acc>Ccc	p.T264P	RPTOR_uc002jys.3_Missense_Mutation_p.T264P|RPTOR_uc010wuf.1_Missense_Mutation_p.T79P|RPTOR_uc010wug.1_Missense_Mutation_p.T264P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	264					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGACCTATTCACCTCCTGCCT	0.657												
APCDD1	147495	broad.mit.edu	37	18	10471619	10471619	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr18:10471619G>A	uc002kom.4	+	2	689	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	112					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TATTATGGCAGCAACCGGTGC	0.532												
MUC16	94025	broad.mit.edu	37	19	9084743	9084743	+	Silent	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:9084743G>T	uc002mkp.3	-	0	7276	c.7072C>A	c.(7072-7074)Cgg>Agg	p.R2358R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2358	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R2358P(1)|p.R2358L(1)		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						TTTGTTTTCCGTGCGTCAAGG	0.433												
SMARCA4	6597	broad.mit.edu	37	19	11136160	11136160	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:11136160C>T	uc010dxp.3	+	22	3504	c.3144C>T	c.(3142-3144)caC>caT	p.H1048H	SMARCA4_uc010dxo.3_Silent_p.H1048H|SMARCA4_uc002mqf.4_Silent_p.H1048H|SMARCA4_uc002mqg.1_Silent_p.H1048H|SMARCA4_uc010dxq.3_Silent_p.H1048H|SMARCA4_uc010dxr.3_Silent_p.H1048H|SMARCA4_uc002mqj.4_Silent_p.H1048H|SMARCA4_uc010dxs.3_Silent_p.H1048H|SMARCA4_uc010dxt.1_Silent_p.H268H|SMARCA4_uc002mqh.4_Silent_p.H171H|SMARCA4_uc002mqi.1_Silent_p.H251H	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1048					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCTGCAACCACCCCTACATGT	0.617			"""F, N, Mis"""		NSCLC							
CEACAM7	1087	broad.mit.edu	37	19	42191016	42191016	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:42191016C>A	uc002ori.1	-	1	203	c.201G>T	c.(199-201)tgG>tgT	p.W67C	CEACAM7_uc010ehx.2_Missense_Mutation_p.W67C|CEACAM7_uc010ehy.1_Missense_Mutation_p.W67C	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	67	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane		p.W67*(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CCCCTTTGTACCAGTTGTAGC	0.458												
CCDC8	83987	broad.mit.edu	37	19	46915568	46915568	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:46915568G>A	uc002pep.3	-	0	1352	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	167						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCGGGCAGGCGGCGCGCTGGG	0.647												
PRKCG	5582	broad.mit.edu	37	19	54401216	54401216	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:54401216G>A	uc002qcq.1	+	9	1225	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	PRKCG_uc010yef.1_Silent_p.G285G|PRKCG_uc010yeg.1_Missense_Mutation_p.V315M|PRKCG_uc010yeh.1_Missense_Mutation_p.V202M	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	315				RVRM -> VSRT (in Ref. 3; AAA60102).	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)		TCCACAGCGGGTGCGGATGGG	0.582												
KIR3DL2	3811	broad.mit.edu	37	19	55378070	55378070	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:55378070C>A	uc002qhl.4	+	8	1315	c.1252C>A	c.(1252-1254)Ccc>Acc	p.P418T	KIR3DL2_uc002qho.4_Missense_Mutation_p.P418T|KIR3DL2_uc010esh.3_Missense_Mutation_p.P401T			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	418					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TTCTCAGAGGCCCAAGACACC	0.522												
NLRP7	199713	broad.mit.edu	37	19	55451740	55451740	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:55451740G>A	uc002qih.4	-	3	523	c.447C>T	c.(445-447)gaC>gaT	p.D149D	NLRP7_uc010esk.3_Silent_p.D149D|NLRP7_uc002qig.4_Silent_p.D149D|NLRP7_uc002qii.4_Silent_p.D149D|NLRP7_uc010esl.3_Silent_p.D177D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	149							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)		TCAGAGTGACGTCGTCATGGA	0.498												
NLRP4	147945	broad.mit.edu	37	19	56382210	56382210	+	Missense_Mutation	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:56382210T>C	uc002qmd.4	+	6	2794	c.2372T>C	c.(2371-2373)cTc>cCc	p.L791P	NLRP4_uc002qmf.3_Missense_Mutation_p.L716P|NLRP4_uc010etf.3_Missense_Mutation_p.L566P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	791							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTGCCACCTCAGCGAGCAG	0.498												
ASAP2	8853	broad.mit.edu	37	2	9347326	9347326	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:9347326G>A	uc002qzh.2	+	0	433	c.93G>A	c.(91-93)gcG>gcA	p.A31A	ASAP2_uc002qzi.2_Silent_p.A31A	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	31					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCCGCACGGCGCAGTGCCGGA	0.731												
EHD3	30845	broad.mit.edu	37	2	31484555	31484555	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:31484555C>A	uc002rnu.3	+	4	1664	c.1056C>A	c.(1054-1056)gaC>gaA	p.D352E	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	352					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CACCTGGGGACTTCCCCAATC	0.592												
BCL11A	53335	broad.mit.edu	37	2	60689292	60689292	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:60689292G>A	uc002sae.1	-	3	983	c.755C>T	c.(754-756)tCc>tTc	p.S252F	BCL11A_uc002sab.3_Missense_Mutation_p.S252F|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.S218F|BCL11A_uc002sad.1_Missense_Mutation_p.S100F|BCL11A_uc002saf.1_Missense_Mutation_p.S218F	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	252					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCCAGGCCGGAAGCCTCTCT	0.567			T	IGH@	B-CLL							
CKAP2L	150468	broad.mit.edu	37	2	113514622	113514622	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:113514622G>A	uc002tie.2	-	3	405	c.326C>T	c.(325-327)tCt>tTt	p.S109F	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	109						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGGGTTAGAAGAAACACATTC	0.473												
MARCO	8685	broad.mit.edu	37	2	119726837	119726837	+	Missense_Mutation	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:119726837G>T	uc002tln.1	+	2	331	c.199_splice	c.e2+1	p.V67_splice	MARCO_uc010yyf.1_Splice_Site	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	67					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGTGGTCCAAGGTAAAGCAGG	0.612												
LRP1B	53353	broad.mit.edu	37	2	141143511	141143511	+	Silent	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:141143511C>A	uc002tvj.1	-	66	11454	c.10482G>T	c.(10480-10482)cgG>cgT	p.R3494R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3494	LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCTATCACACCGCCAGTGAT	0.378										TSP Lung(27;0.18)		
CSRNP3	80034	broad.mit.edu	37	2	166535947	166535947	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:166535947C>T	uc002udf.3	+	6	1818	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	CSRNP3_uc002udg.3_Missense_Mutation_p.A481V	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	481					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GTTGACTATGCCCGACAAGCA	0.512												
SP5	389058	broad.mit.edu	37	2	171573817	171573817	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:171573817G>A	uc002uge.3	+	1	1266	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H		NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Homo sapiens Sp5 transcription factor (SP5), mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CGCTTCATGCGCAGCGACCAC	0.647												
TTN	7273	broad.mit.edu	37	2	179613920	179613920	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:179613920C>A	uc021vsy.1	-						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript|TTN_uc002unb.2_Missense_Mutation_p.G4403C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			TCTGATCTACCAAGTTTTCCA	0.328												
SF3B1	23451	broad.mit.edu	37	2	198267454	198267454	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:198267454C>A	uc002uue.3	-	13	1951	c.1903G>T	c.(1903-1905)Gta>Tta	p.V635L		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	635					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCAGAGGCTACAACAGCAAAA	0.448			Mis		myelodysplastic syndrome							
SGOL2	151246	broad.mit.edu	37	2	201437781	201437781	+	Missense_Mutation	SNP	T	T	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:201437781T>G	uc002uvw.2	+	6	2825	c.2712T>G	c.(2710-2712)aaT>aaG	p.N904K	SGOL2_uc010zhd.1_Missense_Mutation_p.N904K|SGOL2_uc010zhe.1_Missense_Mutation_p.N904K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	904					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.N904Y(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAAAAATAAATAAGCTCAGGA	0.299												
CPS1	1373	broad.mit.edu	37	2	211515146	211515146	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:211515146C>T	uc010fur.3	+	28	3564	c.3482C>T	c.(3481-3483)gCg>gTg	p.A1161V	CPS1_uc002vee.4_Missense_Mutation_p.A1155V|CPS1_uc010fus.3_Missense_Mutation_p.A704V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1155	ATP-grasp 2.			EH -> AT (in Ref. 1; BAA14328).	carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTAGAAGAGGCGACTAGAGTT	0.368												
UGT1A1	54600	broad.mit.edu	37	2	234581022	234581022	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:234581022G>A	uc002vus.3	+	0	479	c.442G>A	c.(442-444)Gat>Aat	p.D148N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.D148N	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	151					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.D148N(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AGTGTTTCTCGATCCTTTTGA	0.373												
SLC7A4	6545	broad.mit.edu	37	22	21384419	21384419	+	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:21384419A>G	uc002zud.3	-	2	1272	c.1204T>C	c.(1204-1206)Tac>Cac	p.Y402H	SLC7A4_uc002zue.3_Missense_Mutation_p.Y402H	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	402					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACGAATGTGTAGGCCAGGAGT	0.657												
RRP7A	27341	broad.mit.edu	37	22	42910784	42910784	+	Silent	SNP	C	C	T	rs146741450	by1000genomes	TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:42910784C>T	uc003bcp.3	-	3	1024	c.530_splice	c.e3-1	p.K177_splice	RRP7A_uc003bcq.3_Splice_Site_p.K154_splice	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA.	154							nucleotide binding|RNA binding	p.K154K(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						CACTGATCCACTCTGAGGAAA	0.602												
MOV10L1	54456	broad.mit.edu	37	22	50596619	50596619	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:50596619C>T	uc003bjj.3	+	22	3283	c.3200C>T	c.(3199-3201)aCg>aTg	p.T1067M	MOV10L1_uc003bjk.4_Missense_Mutation_p.T1067M|MOV10L1_uc011arp.2_Missense_Mutation_p.T1047M|MOV10L1_uc003bjl.3_Missense_Mutation_p.T194M|MOV10L1_uc003bjm.1_Missense_Mutation_p.T110M	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1067					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGCGTCATCACGCCCTACCGG	0.657												
ITPR1	3708	broad.mit.edu	37	3	4699832	4699832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:4699832C>T	uc003bqc.3	+	11	1326	c.976C>T	c.(976-978)Cga>Tga	p.R326*	ITPR1_uc021wsi.1_Nonsense_Mutation_p.R341*|ITPR1_uc021wsj.1_Nonsense_Mutation_p.R326*|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	341	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGACGCCTCTCGAAGTAGGTT	0.488												
SLC6A6	6533	broad.mit.edu	37	3	14513770	14513770	+	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:14513770C>G	uc010heg.3	+	9	1453	c.1154C>G	c.(1153-1155)aCa>aGa	p.T385R	SLC6A6_uc003byq.3_Missense_Mutation_p.T385R|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	385					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CCGCTGCCCACATTTTGGTCC	0.537												
C3orf20	84077	broad.mit.edu	37	3	14799033	14799033	+	Missense_Mutation	SNP	G	G	A	rs151210868		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:14799033G>A	uc003byy.3	+	12	2548	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	C3orf20_uc003byz.3_Missense_Mutation_p.R577H|C3orf20_uc003bza.3_Missense_Mutation_p.R577H|C3orf20_uc003bzb.1_Missense_Mutation_p.R200H|C3orf20_uc011avj.2_Missense_Mutation_p.R26H	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	699						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAGCTGGAGCGCTTCCTGTTG	0.627												
TTC21A	199223	broad.mit.edu	37	3	39156148	39156148	+	Missense_Mutation	SNP	G	G	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:39156148G>C	uc003cjc.2	+	5	808	c.631G>C	c.(631-633)Ggg>Cgg	p.G211R	TTC21A_uc003cja.3_Missense_Mutation_p.G211R|TTC21A_uc010hho.2_Missense_Mutation_p.G133R|TTC21A_uc003cjb.3_Missense_Mutation_p.R77T|TTC21A_uc011ayx.1_Missense_Mutation_p.G170R|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	211							binding	p.G211G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTGACTTCAGGGAGCTTCCT	0.552												
CACNA2D2	9254	broad.mit.edu	37	3	50416395	50416395	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:50416395C>T	uc003daq.3	-	12	1328	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	CACNA2D2_uc003dap.3_Silent_p.Q430Q	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	430	VWFA.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CATAGTTATGCTGCCCCACGG	0.587												
ACOX2	8309	broad.mit.edu	37	3	58520774	58520774	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:58520774G>A	uc003dkl.3	-	1	235	c.60C>T	c.(58-60)ccC>ccT	p.P20P		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	20					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTCTATGTCGGGGTGCATTT	0.552												
KLF15	28999	broad.mit.edu	37	3	126071173	126071173	+	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:126071173C>G	uc011bkk.1	-	1	775	c.593G>C	c.(592-594)gGt>gCt	p.G198A		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Homo sapiens Kruppel-like factor 15 (KLF15), mRNA.	198						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TGCACTGGCACCACCTGGTGG	0.662												
COL6A6	131873	broad.mit.edu	37	3	130325803	130325803	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:130325803G>A	uc010htl.3	+	19	4713	c.4682G>A	c.(4681-4683)gGc>gAc	p.G1561D	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1561	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGACATACAGGCCCACAGGTA	0.353												
CPB1	1360	broad.mit.edu	37	3	148562321	148562321	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:148562321C>A	uc003ewl.3	+	6	656	c.633C>A	c.(631-633)gaC>gaA	p.D211E		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	211					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACAAGTTAGACTTTTATGTCC	0.413												
SLC7A14	57709	broad.mit.edu	37	3	170198876	170198876	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:170198876C>A	uc003fgz.2	-	6	1511	c.1195G>T	c.(1195-1197)Gca>Tca	p.A399S	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	399						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACCAACAGTGCGAGGAGCGCT	0.592												
DRD5	1816	broad.mit.edu	37	4	9784478	9784478	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr4:9784478C>A	uc003gmb.4	+	0	1221	c.825C>A	c.(823-825)agC>agA	p.S275R		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	275					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.S275R(4)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCCGGAGCAGCGCAGCCTGCG	0.637												
BOD1L1	259282	broad.mit.edu	37	4	13583896	13583896	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr4:13583896C>T	uc003gmz.1	-	18	8674	c.8557G>A	c.(8557-8559)Gag>Aag	p.E2853K		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2853							DNA binding										TCGTTCTGCTCTGGCTTTTCA	0.383												
EGF	1950	broad.mit.edu	37	4	110915953	110915953	+	Silent	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr4:110915953T>C	uc003hzy.4	+	19	3374	c.2922T>C	c.(2920-2922)tcT>tcC	p.S974S	EGF_uc011cfu.2_Silent_p.S932S|EGF_uc011cfv.2_Silent_p.S933S|EGF_uc010imk.3_Silent_p.S122S	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	974	EGF-like 9.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ATAGTGACTCTGAATGTCCCC	0.438												
PRDM9	56979	broad.mit.edu	37	5	23522495	23522495	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:23522495G>A	uc003jgo.3	+	6	773	c.591G>A	c.(589-591)ccG>ccA	p.P197P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	197					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E196K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCAGCGAGCCGCAGGATGATG	0.443										HNSCC(3;0.000094)		
NDUFAF2	91942	broad.mit.edu	37	5	60368982	60368982	+	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:60368982A>G	uc003jsp.4	+	1	285	c.158A>G	c.(157-159)gAa>gGa	p.E53G	NDUFAF2_uc003jso.4_Intron	NM_174889	NP_777549	Q8N183	MIMIT_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA.	53						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				AGAATTGTAGAAGCAGCAAAT	0.323												
PCDHAC2	56143	broad.mit.edu	37	5	140202989	140202989	+	Silent	SNP	T	T	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:140202989T>A	uc003lhl.2	+	0	1629	c.1629T>A	c.(1627-1629)ccT>ccA	p.P543P	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_uc003lhk.1_Silent_p.P543P|PCDHAC2_uc003lhj.1_Silent_p.P543P	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	558	Cadherin 5.				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)			GCGTGCCGCCTCTGGGCAGCA	0.701												
PCDHGC5	26025	broad.mit.edu	37	5	140810930	140810930	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:140810930C>T	uc003lkt.2	+	0	773	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	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_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.R202C	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	202	Cadherin 2.				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)			CGCCCTGGACCGCGAAGAAAA	0.627												
HAVCR1	26762	broad.mit.edu	37	5	156476070	156476070	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:156476070G>A	uc010jij.1	-	4	945	c.760C>T	c.(760-762)Cca>Tca	p.P254S	HAVCR1_uc011ddl.1_Missense_Mutation_p.P85S|HAVCR1_uc003lwi.2_Missense_Mutation_p.P254S|HAVCR1_uc021ygj.1_Missense_Mutation_p.P254S|HAVCR1_uc021ygk.1_Missense_Mutation_p.P85S	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	249					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGTACAATGGTGAGCTGGTG	0.478												
SLIT3	6586	broad.mit.edu	37	5	168100307	168100307	+	Missense_Mutation	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:168100307T>C	uc010jjg.3	-	32	4157	c.3737A>G	c.(3736-3738)cAc>cGc	p.H1246R	SLIT3_uc003mab.3_Missense_Mutation_p.H1239R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1239	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCACACTGTGAAACTGCCC	0.567												
BTBD9	114781	broad.mit.edu	37	6	38256182	38256182	+	Silent	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:38256182G>T	uc003ooa.4	-	8	1896	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	BTBD9_uc010jwv.3_Silent_p.V410V|BTBD9_uc003ony.4_Silent_p.V372V|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.V440V	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	440					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GGCTCCGACTGACTCCTTCAA	0.463												
SLC29A1	2030	broad.mit.edu	37	6	44198124	44198124	+	Silent	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:44198124T>C	uc003oww.1	+	6	924	c.732T>C	c.(730-732)gcT>gcC	p.A244A	SLC29A1_uc011dvp.1_3'UTR|SLC29A1_uc003owu.1_Silent_p.A165A|SLC29A1_uc003owv.1_Silent_p.A165A|SLC29A1_uc011dvq.1_3'UTR|SLC29A1_uc003owx.1_Silent_p.A165A|SLC29A1_uc003owy.1_Silent_p.A165A|SLC29A1_uc003owz.1_Silent_p.A165A	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	165					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	TTGGTCTGGCTGGCCTTCTGC	0.627												
IMPG1	3617	broad.mit.edu	37	6	76744406	76744406	+	Missense_Mutation	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:76744406T>C	uc003pik.1	-	2	530	c.400A>G	c.(400-402)Acc>Gcc	p.T134A		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	134					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGGCAGAAGGTCTCCTGCTGG	0.498												
IL22RA2	116379	broad.mit.edu	37	6	137482860	137482860	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:137482860G>A	uc003qhl.3	-	1	328	c.27C>T	c.(25-27)ggC>ggT	p.G9G	IL22RA2_uc003qhn.3_Silent_p.G9G|IL22RA2_uc003qhm.3_Silent_p.G9G	NM_052962	NP_443194	Q969J5	I22R2_HUMAN	Homo sapiens interleukin 22 receptor, alpha 2 (IL22RA2), transcript variant 1, mRNA.	9					regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TGATGAGGAAGCCTAGAAAGC	0.413												
EZR	7430	broad.mit.edu	37	6	159239121	159239121	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:159239121G>A	uc003qrt.4	-	0	220	c.5C>T	c.(4-6)cCg>cTg	p.P2L	EZR_uc011efs.2_Missense_Mutation_p.P2L|EZR_uc003qru.4_Missense_Mutation_p.P2L	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	2	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TACTGGTTTCGGCATTTTCGG	0.577			T	ROS1	NSCLC							
DNAH11	8701	broad.mit.edu	37	7	21657267	21657267	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:21657267G>A	uc003svc.3	+	22	4172	c.4141G>A	c.(4141-4143)Gtc>Atc	p.V1381I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1381	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V1381F(2)|p.V1381I(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAAGTCCGCGTCTGGGATGC	0.483									Kartagener syndrome			
CLK2P	1197	broad.mit.edu	37	7	23625496	23625496	+	Missense_Mutation	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:23625496T>C	uc003swk.2	-	0	651	c.1A>G	c.(1-3)Atg>Gtg	p.M1V						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		CAGTCAAACATCTGGACACAG	0.473												
CALN1	83698	broad.mit.edu	37	7	71275406	71275406	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:71275406C>T	uc003twb.4	-	5	964	c.573G>A	c.(571-573)acG>acA	p.T191T	CALN1_uc003twa.4_Silent_p.T149T|CALN1_uc003twc.4_Silent_p.T149T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	149						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.T149T(1)|p.R190Q(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGTCCTTCATCGTTAGGTGGT	0.463												
PMPCB	9512	broad.mit.edu	37	7	102937947	102937947	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:102937947C>A	uc003vbk.1	+	0	75	c.41C>A	c.(40-42)gCg>gAg	p.A14E	PMPCB_uc010liu.1_Missense_Mutation_p.A14E|PMPCB_uc003vbl.3_Missense_Mutation_p.A14E|PMPCB_uc011kll.1_5'UTR|PMPCB_uc011klm.1_5'Flank	NM_004279	NP_004270	O75439	MPPB_HUMAN	Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.	14					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATCCGCGGCGCGGCGGCGG	0.652											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
WEE2	494551	broad.mit.edu	37	7	141429401	141429401	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:141429401G>A	uc003vwn.2	+	10	2012	c.1606G>A	c.(1606-1608)Ggg>Agg	p.G536R	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	536					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.G536G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGGGGTCTCTGGGACCCACAC	0.522												
GIMAP8	155038	broad.mit.edu	37	7	150171495	150171495	+	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:150171495A>G	uc003whj.3	+	3	1408	c.1078A>G	c.(1078-1080)Atc>Gtc	p.I360V		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	360						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGAGTACATGATCATACTTCT	0.403												
GIMAP1-GIMAP5	170575	broad.mit.edu	37	7	150417944	150417944	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:150417944C>T	uc003whq.3	+	2	992	c.852C>T	c.(850-852)ggC>ggT	p.G284G	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		TGCTGGGGGGCGCGCTCCTGT	0.687												
PTDSS1	9791	broad.mit.edu	37	8	97296348	97296348	+	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr8:97296348C>G	uc003yht.1	+	2	385	c.283C>G	c.(283-285)Cga>Gga	p.R95G	PTDSS1_uc003yhu.1_Intron	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	95					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCGTTCACTCGACCTCATCC	0.353												
HSD17B3	3293	broad.mit.edu	37	9	99064323	99064323	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr9:99064323C>T	uc004awa.1	-	0	112	c.64G>A	c.(64-66)Gcg>Acg	p.A22T	HSD17B3_uc010msc.1_Missense_Mutation_p.A22T	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	22					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	ACGCACTTCGCCAGGCAGGCC	0.547												
UCK1	83549	broad.mit.edu	37	9	134400596	134400596	+	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr9:134400596A>G	uc004cay.3	-	6	766	c.665T>C	c.(664-666)cTg>cCg	p.L222P	UCK1_uc010mzk.3_Missense_Mutation_p.L213P|UCK1_uc004cba.3_Silent_p.P190P|UCK1_uc004caz.3_Non-coding_Transcript	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.	222					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CTGCACGATCAGGTTGATGGC	0.597												
SHROOM2	357	broad.mit.edu	37	X	9905429	9905429	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:9905429C>T	uc004csu.1	+	6	3933	c.3843C>T	c.(3841-3843)ccC>ccT	p.P1281P	SHROOM2_uc004csv.2_Silent_p.P116P|SHROOM2_uc011mic.1_Silent_p.P116P|SHROOM2_uc004csw.1_Silent_p.P116P	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1281					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CGGCTGAGCCCCAGCCCCTGG	0.642												
SRPX	8406	broad.mit.edu	37	X	38009054	38009054	+	Silent	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:38009054A>G	uc004ddy.2	-	9	1437	c.1305T>C	c.(1303-1305)ccT>ccC	p.P435P	SRPX_uc011mki.2_3'UTR|SRPX_uc004ddz.2_Silent_p.P415P|SRPX_uc011mkh.2_Silent_p.P376P	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	435					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ACAGGGCCACAGGCATCACCA	0.502												
WDR45	11152	broad.mit.edu	37	X	48935362	48935362	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:48935362G>A	uc004dml.1	-	3	347	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	WDR45_uc011mmt.2_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.R9C|WDR45_uc004dmk.1_Missense_Mutation_p.R59C|WDR45_uc004dmn.1_5'UTR|WDR45_uc004dmp.1_Missense_Mutation_p.R59C|WDR45_uc011mmu.2_Missense_Mutation_p.R59C	NM_007075	NP_009006	Q9Y484	WIPI4_HUMAN	Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.	59					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AGGTTGGAGCGGTGCAGCATC	0.607												
OPN1LW	5956	broad.mit.edu	37	X	153416186	153416186	+	Silent	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:153416186T>C	uc004fjz.4	+	1	204	c.171T>C	c.(169-171)agT>agC	p.S57S		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	57					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTCACCAGTGTCTGGATGA	0.587												
RPL10	6134	broad.mit.edu	37	X	153628824	153628824	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:153628824G>A	uc004fkm.2	+	5	537	c.349G>A	c.(349-351)Ggt>Agt	p.G117S	AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.G117S|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.G42S|RPL10_uc022cif.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	117					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGCATGCGAGGTGCCTTTGG	0.527												
VAMP7	6845	broad.mit.edu	37	X	155130194	155130194	+	Missense_Mutation	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:155130194G>T	uc004fnr.3	+	4	554	c.376G>T	c.(376-378)Gtg>Ttg	p.V126L	VAMP7_uc011naa.2_Missense_Mutation_p.V87L|VAMP7_uc011nab.2_Missense_Mutation_p.V25L|VAMP7_uc004fnt.3_Missense_Mutation_p.V85L|VAMP7_uc004fns.3_Missense_Mutation_p.V126L|VAMP7_uc011nac.2_Missense_Mutation_p.V59L	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	126	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTAGACAAAGTGATGGAGAC	0.358