Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
HTR7	3363	broad.mit.edu	37	10	92616928	92616928	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr10:92616928C>A	ENST00000371721.3	-	1	743	c.501G>T	c.(499-501)acG>acT	p.T167T	HTR7_ENST00000336152.3_Silent_p.T167T|HTR7_ENST00000371719.2_Silent_p.T167T|HTR7_ENST00000277874.6_Silent_p.T167T			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	167					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	p.T167T(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TGATCGAGGCCGTGCAGCACA	0.617000													17	7					5.3912e-06	7.3047e-06	0.006122	1	0
CYP11B2	1585	broad.mit.edu	37	8	143996605	143996605	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:143996605G>T	ENST00000323110.2	-	3	454	c.452C>A	c.(451-453)cCc>cAc	p.P151H		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	151					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.P151H(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CACGGCCTTGGGCGACAGCAC	0.637000									Familial Hyperaldosteronism type I				34	41					1.36615e-20	2.51769e-20	0.002836	1	0
IL21R	50615	broad.mit.edu	37	16	27459937	27459937	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr16:27459937A>G	ENST00000337929.3	+	9	1423	c.950A>G	c.(949-951)tAc>tGc	p.Y317C	IL21R_ENST00000395755.1_Missense_Mutation_p.Y317C|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.Y317C|IL21R_ENST00000564089.1_Missense_Mutation_p.Y317C|IL21R_ENST00000564583.1_3'UTR	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	317					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.Y317C(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGGAGGTGTACAGCTGCCAC	0.632000			T	BCL6	NHL								8	49					0	0	0.003080	0	0
MFGE8	4240	broad.mit.edu	37	15	89450563	89450563	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr15:89450563A>G	ENST00000539437.1	-	4	362	c.226T>C	c.(226-228)Tca>Cca	p.S76P	MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000268151.7_Missense_Mutation_p.S84P|MFGE8_ENST00000566497.1_Missense_Mutation_p.S84P|MFGE8_ENST00000542878.1_Missense_Mutation_p.S40P|MFGE8_ENST00000268150.8_Missense_Mutation_p.S84P			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	84	F5/8 type C 1.		M -> L (in dbSNP:rs1878326).		angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			p.S84P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					GCGATCTGTGAGTTGGCAATG	0.632000													5	31					0	0	0.001168	0	0
MICAL3	57553	broad.mit.edu	37	22	18301725	18301725	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr22:18301725C>A	ENST00000441493.2	-	26	4054	c.3702G>T	c.(3700-3702)agG>agT	p.R1234S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1234	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.R1234S(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGACAGGAGTCCTAGCTTCTG	0.652000													9	21					0.00448238	0.00554248	0.004482	1	0
SPAG9	9043	broad.mit.edu	37	17	49079164	49079164	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr17:49079164C>G	ENST00000262013.7	-	13	1727	c.1519G>C	c.(1519-1521)Gaa>Caa	p.E507Q	SPAG9_ENST00000510283.1_Missense_Mutation_p.E350Q|SPAG9_ENST00000505279.1_Missense_Mutation_p.E493Q|SPAG9_ENST00000357122.4_Missense_Mutation_p.E493Q	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	507					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		p.E493Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CGGGCCATTTCTACTCTAGTA	0.413000													12	89					0	0	0.001855	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855060	79855060	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:79855060C>A	ENST00000338682.3	-	5	1451	c.779G>T	c.(778-780)aGa>aTa	p.R260I		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	260						cytoplasm|nucleus		p.R260I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGAAGCCACTCTGTTCTGGTG	0.532000													31	90					4.4194e-11	6.99254e-11	0.002836	1	0
PML	5371	broad.mit.edu	37	15	74290522	74290522	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr15:74290522G>T	ENST00000565898.1	+	2	391	c.307G>T	c.(307-309)Gcc>Tcc	p.A103S	PML_ENST00000569965.1_Missense_Mutation_p.A103S|PML_ENST00000569477.1_Missense_Mutation_p.A103S|PML_ENST00000567543.1_Missense_Mutation_p.A103S|PML_ENST00000564428.1_Missense_Mutation_p.A103S|PML_ENST00000563500.1_Missense_Mutation_p.A103S|PML_ENST00000268059.6_Missense_Mutation_p.A103S|PML_ENST00000359928.4_Missense_Mutation_p.A103S|PML_ENST00000436891.3_Missense_Mutation_p.A103S|PML_ENST00000435786.2_Missense_Mutation_p.A103S|PML_ENST00000395132.2_Missense_Mutation_p.A103S|PML_ENST00000395135.3_Missense_Mutation_p.A103S|PML_ENST00000354026.6_Missense_Mutation_p.A103S|PML_ENST00000268058.3_Missense_Mutation_p.A103S			P29590	PML_HUMAN	promyelocytic leukemia	103					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.A103S(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGACACACCCGCCCTGGATAA	0.647000			T	"""RARA, PAX5"""	"""APL, ALL"""								6	37					1.06961e-07	1.56378e-07	0.003080	1	0
MYT1L	23040	broad.mit.edu	37	2	1893159	1893159	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:1893159G>T	ENST00000399161.2	-	16	3121	c.2374C>A	c.(2374-2376)Cct>Act	p.P792T	MYT1L_ENST00000428368.2_Missense_Mutation_p.P790T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	792					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P792T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCTCCAGAGGGGTCAGGATG	0.622000													25	74					1.64293e-13	2.71564e-13	0.003330	1	0
TENM1	10178	broad.mit.edu	37	X	123554295	123554295	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chrX:123554295C>A	ENST00000422452.2	-	25	4911	c.4848G>T	c.(4846-4848)tgG>tgT	p.W1616C	TENM1_ENST00000371130.3_Missense_Mutation_p.W1609C|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.W1611C(1)									TTATAGTCAGCCAGTATACTT	0.527000													13	21					2.27111e-07	3.23196e-07	0.001368	1	0
CTAGE1	64693	broad.mit.edu	37	18	19997690	19997690	+	Silent	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr18:19997690A>G	ENST00000391403.2	-	1	188	c.85T>C	c.(85-87)Ttg>Ctg	p.L29L		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	29						integral to membrane		p.L29L(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CTTCTCCACAAGAAGAGAACA	0.408000													13	38					0	0	0.001368	0	0
PDHA2	5161	broad.mit.edu	37	4	96762444	96762444	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr4:96762444G>T	ENST00000295266.4	+	1	1206	c.1143G>T	c.(1141-1143)tgG>tgT	p.W381C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	381					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.W381C(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CAAATCCATGGATCAAGTTTA	0.413000													13	90					4.3838e-07	6.14755e-07	0.001855	1	0
ZNF235	9310	broad.mit.edu	37	19	44792687	44792687	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:44792687T>C	ENST00000291182.4	-	5	1003	c.901A>G	c.(901-903)Agt>Ggt	p.S301G	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S301G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GAGCTATAACTGGTGTCCTTC	0.418000													6	78					0	0	0.001984	0	0
DNAJC21	134218	broad.mit.edu	37	5	34937468	34937468	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:34937468G>T	ENST00000382021.2	+	5	703	c.476G>T	c.(475-477)tGc>tTc	p.C159F	DNAJC21_ENST00000342382.4_Missense_Mutation_p.C159F|DNAJC21_ENST00000303525.7_Missense_Mutation_p.C159F	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	159					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	p.C159F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CAGAGTTTCTGCACTCAAAAG	0.373000													28	33					2.2171e-23	4.21512e-23	0.001786	1	0
SYMPK	8189	broad.mit.edu	37	19	46326729	46326729	+	Splice_Site	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:46326729G>C	ENST00000245934.7	-	20	2845	c.2599_splice	c.e20-1	p.V867_splice	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	867					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.V867V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGAGGGTGGGACTGCATGGA	0.637000													3	31					0	0	0.004672	0	0
MYOCD	93649	broad.mit.edu	37	17	12666716	12666716	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr17:12666716C>G	ENST00000425538.1	+	14	2916	c.2716C>G	c.(2716-2718)Cca>Gca	p.P906A	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.P858A	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	858					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.P858A(1)|p.P906A(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGAGATCTTGCCAGGCCCCCT	0.498000													6	61					0	0	0.001168	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396338	38396338	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:38396338C>A	ENST00000377698.3	+	2	746	c.593C>A	c.(592-594)cCg>cAg	p.P198Q		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	198					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.P198Q(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AAACTTGCCCCGGCACTCGCC	0.597000													28	72					1.39806e-14	2.3762e-14	0.008361	1	0
GRM1	2911	broad.mit.edu	37	6	146720434	146720434	+	Silent	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:146720434G>C	ENST00000392299.2	+	8	2729	c.2259G>C	c.(2257-2259)gtG>gtC	p.V753V	GRM1_ENST00000355289.4_Silent_p.V753V|GRM1_ENST00000507907.1_Silent_p.V753V|GRM1_ENST00000492807.2_Silent_p.V753V|GRM1_ENST00000361719.2_Silent_p.V753V|GRM1_ENST00000282753.1_Silent_p.V753V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	753					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.V753V(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACCTGGGTGTGGTGGCCCCTT	0.512000													52	84					0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237789031	237789031	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:237789031C>A	ENST00000366574.2	+	40	6410	c.6093C>A	c.(6091-6093)tcC>tcA	p.S2031S	RYR2_ENST00000360064.6_Silent_p.S2029S|RYR2_ENST00000542537.1_Silent_p.S2015S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2031	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S2029S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCTGCTATCCCTGGTAGAAA	0.423000													26	81					1.42536e-11	2.29296e-11	0.004656	1	0
NTRK3	4916	broad.mit.edu	37	15	88669523	88669523	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr15:88669523G>C	ENST00000394480.1	-	13	1696	c.1375C>G	c.(1375-1377)Cgg>Ggg	p.R459G	NTRK3_ENST00000317501.3_Missense_Mutation_p.R459G|NTRK3_ENST00000360948.2_Missense_Mutation_p.R459G|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000357724.2_Missense_Mutation_p.R451G|NTRK3_ENST00000557856.1_Missense_Mutation_p.R451G|NTRK3_ENST00000355254.2_Missense_Mutation_p.R459G|NTRK3_ENST00000540489.2_Missense_Mutation_p.R459G|NTRK3_ENST00000558676.1_Missense_Mutation_p.R451G|NTRK3_ENST00000542733.2_Missense_Mutation_p.R361G	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	459					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R459W(3)|p.R459G(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AATTTGGACCGTCGACCATAT	0.433000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			14	33					0	0	0.001855	0	0
SMARCA2	6595	broad.mit.edu	37	9	2047450	2047450	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:2047450G>T	ENST00000382203.1	+	5	1221	c.1012G>T	c.(1012-1014)Gac>Tac	p.D338Y	SMARCA2_ENST00000357248.2_Missense_Mutation_p.D338Y|SMARCA2_ENST00000382194.1_Missense_Mutation_p.D338Y|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D338Y			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	338					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.D334Y(1)|p.D338Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCAAGGCCTGGACCCCGTGGA	0.697000													9	18					1.76689e-08	2.65586e-08	0.006214	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587497	43587497	+	RNA	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr17:43587497T>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							ttgaacctggtaagtggaggt	0.483000													3	13					0	0	0.004672	0	0
MEGF8	1954	broad.mit.edu	37	19	42867243	42867243	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:42867243G>T	ENST00000334370.4	+	34	6536	c.5901G>T	c.(5899-5901)tgG>tgT	p.W1967C	MEGF8_ENST00000251268.6_Missense_Mutation_p.W2034C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2034	PSI 5.					integral to membrane	calcium ion binding|structural molecule activity	p.W2034C(1)|p.W1575C(1)|p.W1967C(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTATGACTGGACGTGCTTCA	0.637000													8	16					5.4927e-09	8.36073e-09	0.004482	1	0
UBQLN3	50613	broad.mit.edu	37	11	5529784	5529784	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:5529784G>C	ENST00000311659.4	-	2	1152	c.1005C>G	c.(1003-1005)aaC>aaG	p.N335K	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	335								p.N335K(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCCAGAAAGTTTGGAAACC	0.512000													3	118					0	0	0.004672	0	0
PI15	51050	broad.mit.edu	37	8	75757410	75757410	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:75757410A>C	ENST00000260113.2	+	4	619	c.440A>C	c.(439-441)aAa>aCa	p.K147T	PI15_ENST00000523773.1_Missense_Mutation_p.K147T|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	147						extracellular region	peptidase inhibitor activity	p.K147T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GATGAAGTGAAAGATTATGCT	0.398000													9	309					0	0	0.004482	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135263563	135263563	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:135263563C>A	ENST00000265605.2	-	3	494	c.426G>T	c.(424-426)cgG>cgT	p.R142R	RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Silent_p.R142R|ALDH8A1_ENST00000367847.2_Silent_p.R142R	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	142					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.R142R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CCACCGGGGCCCGCACCGTGT	0.582000													27	40					1.50538e-07	2.17444e-07	0.006320	1	0
BAGE2	85319	broad.mit.edu	37	21	11038784	11038784	+	RNA	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr21:11038784C>A	ENST00000470054.1	-	0	1419									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTGGTTTACCCATGCCAGTT	0.408000													8	590					0.000274275	0.000349937	0.004482	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107460276	107460276	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:107460276G>A	ENST00000409382.3	-	2	768	c.158C>T	c.(157-159)cCg>cTg	p.P53L	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P53L|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.P53L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	53					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P53L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCCCTGCACCGGCAGGAGCCT	0.682000													8	41					0	0	0.003080	0	0
NSMAF	8439	broad.mit.edu	37	8	59511849	59511849	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:59511849C>G	ENST00000038176.3	-	19	1739	c.1527G>C	c.(1525-1527)tgG>tgC	p.W509C	NSMAF_ENST00000427130.2_Missense_Mutation_p.W540C	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	509	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	p.W509C(1)|p.W540C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTAGATCAATCCACTCGTGAA	0.373000													36	336					0	0	0.005524	0	0
SHANK2	22941	broad.mit.edu	37	11	70507767	70507767	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:70507767C>G	ENST00000338508.4	-	22	1872	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q	SHANK2_ENST00000357171.3_Missense_Mutation_p.E36Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.E36Q|SHANK2_ENST00000449116.2_Missense_Mutation_p.E36Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.E245Q|SHANK2_ENST00000409530.1_Missense_Mutation_p.E35Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.E35Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	245					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.E36Q(2)|p.E625Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCGTCTTCTCCTCAATAATG	0.547000													27	202					0	0	0.006320	0	0
NEFH	4744	broad.mit.edu	37	22	29881765	29881765	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr22:29881765C>A	ENST00000310624.6	+	3	1170	c.1137C>A	c.(1135-1137)gcC>gcA	p.A379A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	379	Coil 2B.|Rod.				cell death|nervous system development	neurofilament		p.A379A(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GGGAGATGGCCGCCCAGCTGC	0.572000													12	43					4.3838e-07	6.14755e-07	0.001855	1	0
OR6K6	128371	broad.mit.edu	37	1	158725166	158725166	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:158725166G>T	ENST00000368144.2	+	1	657	c.561G>T	c.(559-561)gaG>gaT	p.E187D		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E187D(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGCTTCCTGAGATTGCATGGA	0.483000													51	96					8.00217e-19	1.44701e-18	0.003610	1	0
DLX5	1749	broad.mit.edu	37	7	96650227	96650227	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:96650227G>T	ENST00000222598.4	-	3	1164	c.691C>A	c.(691-693)Cgc>Agc	p.R231S	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	231					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R231S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTGAGCGAGCGGGACGAGCCC	0.657000													15	30					6.81908e-15	1.16725e-14	0.002450	1	0
MAF1	84232	broad.mit.edu	37	8	145161786	145161786	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:145161786G>C	ENST00000534585.1	+	6	1150	c.759G>C	c.(757-759)gaG>gaC	p.E253D	MAF1_ENST00000322428.5_Missense_Mutation_p.E223D|MAF1_ENST00000532522.1_Missense_Mutation_p.E223D			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	223					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		p.E223D(1)		central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACATGGAGCTGGGGGAGG	0.637000													4	48					0	0	0.000248	0	0
CDH10	1008	broad.mit.edu	37	5	24537674	24537674	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:24537674G>T	ENST00000264463.4	-	3	848	c.341C>A	c.(340-342)aCa>aAa	p.T114K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	114	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T114K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AATTCGCCTTGTGGCATGAAT	0.408000										HNSCC(23;0.051)			26	118					4.22769e-11	6.71129e-11	0.006320	1	0
CSNK1G3	1456	broad.mit.edu	37	5	122909090	122909090	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:122909090G>T	ENST00000395412.1	+	5	1012	c.293G>T	c.(292-294)gGt>gTt	p.G98V	CSNK1G3_ENST00000512718.3_Missense_Mutation_p.G23V|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G98V|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G98V|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.G98V|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G98V|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G98V|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G98V|CSNK1G3_ENST00000511130.2_5'UTR	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	98	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.G98V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		CCCCCAGATGGTATACCTCAA	0.338000													8	159					0.000274275	0.000349937	0.004482	1	0
DNTT	1791	broad.mit.edu	37	10	98078206	98078206	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr10:98078206C>A	ENST00000419175.1	+	2	471	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	DNTT_ENST00000371174.2_Missense_Mutation_p.L101I	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	101	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.L101I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		ACAACCAGAGCTCCTCGATGT	0.488000													39	116					2.19358e-23	4.18695e-23	0.005524	1	0
TPTE	7179	broad.mit.edu	37	21	10908861	10908861	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr21:10908861T>C	ENST00000298232.7	-	22	1797	c.1430A>G	c.(1429-1431)tAc>tGc	p.Y477C	TPTE_ENST00000361285.4_Missense_Mutation_p.Y495C|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.Y457C	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	495	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Y477C(1)|p.Y495C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACCAGAAGTAAAATGAGCA	0.279000													4	97					0	0	0.000602	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997239	146997239	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:146997239G>C	ENST00000361727.3	+	9	1871	c.1355G>C	c.(1354-1356)gGg>gCg	p.G452A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	452	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G452A(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAGGTTCTGGGTTGAATGAT	0.373000										HNSCC(39;0.1)			3	73					0	0	0.004672	0	0
EYA1	2138	broad.mit.edu	37	8	72156924	72156924	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:72156924G>T	ENST00000340726.3	-	12	1693	c.1054C>A	c.(1054-1056)Cca>Aca	p.P352T	EYA1_ENST00000303824.7_Missense_Mutation_p.P346T|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388740.3_Missense_Mutation_p.P319T|EYA1_ENST00000388742.4_Missense_Mutation_p.P352T|EYA1_ENST00000388741.2_Missense_Mutation_p.P318T|EYA1_ENST00000388743.2_Missense_Mutation_p.P351T	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	352					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.P352T(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAAGTGGGTGGATCCTAAAAT	0.373000													13	37					7.03913e-09	1.06808e-08	0.001368	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21795901	21795901	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:21795901G>T	ENST00000206660.6	+	17	2830	c.2830G>T	c.(2830-2832)Ggg>Tgg	p.G944W	RPGRIP1_ENST00000307974.4_Missense_Mutation_p.G303W|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.G906W|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.G601W|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.G944W|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.G270W			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	944					response to stimulus|visual perception	cilium		p.G560W(1)|p.G944W(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TCAGACTAAGGGGAAGGATAC	0.483000													18	43					1.02788e-11	1.66469e-11	0.004990	1	0
FLG	2312	broad.mit.edu	37	1	152279834	152279834	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:152279834A>T	ENST00000368799.1	-	3	7563	c.7528T>A	c.(7528-7530)Tcc>Acc	p.S2510T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2510	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2510T(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCACTTCTGGATCCTGAGTGC	0.557000									Ichthyosis				15	674					0	0	0.003163	0	0
XYLT1	64131	broad.mit.edu	37	16	17228489	17228489	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr16:17228489C>G	ENST00000261381.6	-	9	1952	c.1868G>C	c.(1867-1869)gGt>gCt	p.G623A	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	623					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G623A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCGGGGTACCTGCAGGGTA	0.572000													46	120					0	0	0.003610	0	0
BRINP3	339479	broad.mit.edu	37	1	190067324	190067324	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:190067324G>T	ENST00000367462.3	-	8	2356	c.2125C>A	c.(2125-2127)Cgt>Agt	p.R709S	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R607S	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		709						extracellular region		p.R709S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTATTTACACGGTCTCTGATC	0.483000													31	76					8.16721e-17	1.43898e-16	0.002096	1	0
CACNB2	783	broad.mit.edu	37	10	18795465	18795465	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr10:18795465C>A	ENST00000396576.2	+	5	995	c.494C>A	c.(493-495)cCt>cAt	p.P165H	CACNB2_ENST00000282343.8_Missense_Mutation_p.P192H|CACNB2_ENST00000324631.7_Missense_Mutation_p.P220H|CACNB2_ENST00000377331.2_Missense_Mutation_p.P192H|CACNB2_ENST00000377315.4_Missense_Mutation_p.P172H|CACNB2_ENST00000352115.6_Missense_Mutation_p.P220H|CACNB2_ENST00000377329.4_Missense_Mutation_p.P166H|CACNB2_ENST00000377319.3_Missense_Mutation_p.P165H|CACNB2_ENST00000377328.1_Intron	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	220	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.P220H(1)|p.P166H(1)|p.P165H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAATCAACACCTCCATCATCT	0.363000													18	28					1.50039e-11	2.38969e-11	0.001882	1	0
RHBDF2	79651	broad.mit.edu	37	17	74473792	74473792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr17:74473792C>A	ENST00000591885.1	-	7	1298	c.748G>T	c.(748-750)Gag>Tag	p.E250*	RHBDF2_ENST00000389760.4_Nonsense_Mutation_p.E250*|RHBDF2_ENST00000313080.4_Nonsense_Mutation_p.E279*			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	279					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.E279*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						ACATCCTCCTCCAGGAAGCTC	0.637000													49	76					9.45407e-15	1.61256e-14	0.003610	1	0
MALAT1	378938	broad.mit.edu	37	11	65269682	65269682	+	RNA	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:65269682G>C	ENST00000534336.1	+	0	4450					NR_002819.2																						CTACTGGGCTGACATTAACTA	0.348000													13	47					0	0	0.004990	0	0
NRIP1	8204	broad.mit.edu	37	21	16339433	16339433	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr21:16339433C>A	ENST00000400202.1	-	3	1793	c.1081G>T	c.(1081-1083)Ggt>Tgt	p.G361C	NRIP1_ENST00000318948.4_Missense_Mutation_p.G361C|NRIP1_ENST00000400199.1_Missense_Mutation_p.G361C			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	361					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	p.G361C(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTCTTATAACCTGCATTTTTA	0.363000													51	100					3.07002e-29	6.10197e-29	0.003610	1	0
PRSS36	146547	broad.mit.edu	37	16	31157117	31157117	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr16:31157117G>C	ENST00000268281.4	-	6	771	c.713C>G	c.(712-714)aCc>aGc	p.T238S	PRSS36_ENST00000418068.2_Missense_Mutation_p.T238S|PRSS36_ENST00000569305.1_Missense_Mutation_p.T238S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	238	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	p.T238S(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CACCTGGCAGGTGTCCCTGCG	0.577000													33	102					0	0	0.004289	0	0
SENP7	57337	broad.mit.edu	37	3	101090930	101090930	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:101090930T>G	ENST00000394095.2	-	7	771	c.718A>C	c.(718-720)Aag>Cag	p.K240Q	SENP7_ENST00000348610.3_Missense_Mutation_p.K207Q|SENP7_ENST00000358203.3_Missense_Mutation_p.K76Q|SENP7_ENST00000394091.1_Missense_Mutation_p.K76Q|SENP7_ENST00000314261.7_Missense_Mutation_p.K174Q|SENP7_ENST00000394094.2_Missense_Mutation_p.K175Q	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	240					proteolysis	nucleus	cysteine-type peptidase activity	p.K240Q(1)|p.K174Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCAGTCTGCTTTGCAGAATTG	0.373000													5	127					0	0	0.001168	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760641	19760641	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:19760641C>A	ENST00000357324.6	-	18	2470	c.2444G>T	c.(2443-2445)gGc>gTc	p.G815V	ATP13A1_ENST00000291503.5_Missense_Mutation_p.G697V	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	815					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.G815V(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GTGGGCCAAGCCGTCGCCTGT	0.677000													5	41					0.00116845	0.00147126	0.001168	1	0
NARF	26502	broad.mit.edu	37	17	80436742	80436742	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr17:80436742C>T	ENST00000390006.4	+	6	884	c.410C>T	c.(409-411)tCc>tTc	p.S137F	NARF_ENST00000412079.2_Missense_Mutation_p.S68F|NARF_ENST00000581743.1_3'UTR|NARF_ENST00000309794.10_Missense_Mutation_p.S196F|NARF_ENST00000345415.7_Missense_Mutation_p.S148F|NARF_ENST00000457415.3_Missense_Mutation_p.S196F	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	196						lamin filament	lamin binding	p.S196F(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACCGCCAAGTCCCCCCAGCAG	0.627000													14	33					0	0	0.001855	0	0
RIMS2	9699	broad.mit.edu	37	8	104973292	104973292	+	Splice_Site	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:104973292G>C	ENST00000507740.1	+	12	2313		c.e12-1		RIMS2_ENST00000436393.2_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site|RIMS2_ENST00000262231.10_Splice_Site	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.?(5)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTACTTTATAGGGTCAAAGAG	0.294000										HNSCC(12;0.0054)			92	262					0	0	0.003610	0	0
ERCC4	2072	broad.mit.edu	37	16	14029250	14029250	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr16:14029250G>C	ENST00000311895.7	+	8	1470	c.1461G>C	c.(1459-1461)aaG>aaC	p.K487N	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	487					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	p.K487N(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CCCTCAAAAAGAAAAAACGGA	0.408000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				3	46					0	0	0.000248	0	0
PLCB1	23236	broad.mit.edu	37	20	8698415	8698415	+	Missense_Mutation	SNP	G	G	A	rs146833633		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr20:8698415G>A	ENST00000378641.3	+	14	1908	c.1433G>A	c.(1432-1434)gGc>gAc	p.G478D	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.G478D|PLCB1_ENST00000338037.6_Missense_Mutation_p.G478D	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	478					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.G478D(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAAGGAAGCGGCAAAAAGAAG	0.478000													4	63					0	0	0.000248	0	0
COL4A1	1282	broad.mit.edu	37	13	110813626	110813626	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr13:110813626T>A	ENST00000375820.4	-	49	4674	c.4553A>T	c.(4552-4554)gAc>gTc	p.D1518V	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1518	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.D1518V(1)|p.D1161V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTACGAGTAGTCATTTCGTGA	0.517000													7	57					0	0	0.003080	0	0
CACNA1B	774	broad.mit.edu	37	9	140809117	140809117	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:140809117G>T	ENST00000371372.1	+	5	779	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V212L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V212L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V212L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V212L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	212					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.V212L(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTTGCAGGTGGTGCTCAAGTC	0.557000													11	23					1.08611e-07	1.57355e-07	0.000978	1	0
MACF1	23499	broad.mit.edu	37	1	39852909	39852909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:39852909C>T	ENST00000564288.1	+	58	15172	c.14395C>T	c.(14395-14397)Cag>Tag	p.Q4799*	MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q2737*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q4804*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q2737*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q4836*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q2716*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q2737*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q3239*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4804					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.Q2737*(1)|p.Q3239*(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGCAGTTCCAGCAAATGTT	0.443000													33	242					0	0	0.003755	0	0
SAMD4A	23034	broad.mit.edu	37	14	55231189	55231189	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:55231189G>T	ENST00000251091.5	+	6	1568	c.1263G>T	c.(1261-1263)ttG>ttT	p.L421F	SAMD4A_ENST00000392067.3_Missense_Mutation_p.L509F|SAMD4A_ENST00000555192.1_Missense_Mutation_p.L100F|SAMD4A_ENST00000357634.3_Missense_Mutation_p.L508F|SAMD4A_ENST00000554335.1_Missense_Mutation_p.L509F	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	509					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.L508F(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CACAGCTCTTGGTCTCCAGAC	0.388000													127	205					1.8369e-69	3.82489e-69	0.003610	1	0
HDAC4	9759	broad.mit.edu	37	2	239988418	239988418	+	Splice_Site	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:239988418C>A	ENST00000345617.3	-	24	3779	c.2988_splice	c.e24+1	p.E996_splice	HDAC4_ENST00000543185.1_Splice_Site_p.E580_splice	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	996	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.E996D(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GTCTTCCTACCTCGTTTCCCA	0.637000													53	126					3.21867e-24	6.2176e-24	0.003610	1	0
CX3CR1	1524	broad.mit.edu	37	3	39307362	39307362	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:39307362T>G	ENST00000541347.1	-	2	878	c.639A>C	c.(637-639)agA>agC	p.R213S	CX3CR1_ENST00000399220.2_Missense_Mutation_p.R213S|CX3CR1_ENST00000358309.3_Missense_Mutation_p.R245S|CX3CR1_ENST00000542107.1_Missense_Mutation_p.R213S	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	213					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.R245S(1)|p.R213S(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TCTGGATGATTCTGAAGTAGC	0.478000													43	101					0	0	0.002222	0	0
AKAP6	9472	broad.mit.edu	37	14	33292102	33292102	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:33292102G>A	ENST00000280979.4	+	13	5253	c.5083G>A	c.(5083-5085)Gac>Aac	p.D1695N	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1695	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.D1695N(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAGCAGCAGTGACGAGCTCTC	0.463000													7	132					0	0	0.003080	0	0
ALPP	250	broad.mit.edu	37	2	233246046	233246046	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:233246046C>T	ENST00000392027.2	+	10	1547	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	426						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.G426G(2)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCAAGGACGGCGCCCGGCCGG	0.697000													6	74					0	0	0.001984	0	0
FBN2	2201	broad.mit.edu	37	5	127713567	127713567	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:127713567A>T	ENST00000508053.1	-	19	2701	c.1727T>A	c.(1726-1728)aTt>aAt	p.I576N	FBN2_ENST00000262464.4_Missense_Mutation_p.I576N|FBN2_ENST00000508989.1_Missense_Mutation_p.I543N			P35556	FBN2_HUMAN	fibrillin 2	576	EGF-like 8; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.I576N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACTCATCAATATCTAGGAA	0.348000													11	180					0	0	0.001855	0	0
CACNB2	783	broad.mit.edu	37	10	18795447	18795447	+	Missense_Mutation	SNP	G	G	C	rs149253719	by1000genomes	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr10:18795447G>C	ENST00000396576.2	+	5	977	c.476G>C	c.(475-477)aGt>aCt	p.S159T	CACNB2_ENST00000282343.8_Missense_Mutation_p.S186T|CACNB2_ENST00000324631.7_Missense_Mutation_p.S214T|CACNB2_ENST00000377331.2_Missense_Mutation_p.S186T|CACNB2_ENST00000377315.4_Missense_Mutation_p.S166T|CACNB2_ENST00000352115.6_Missense_Mutation_p.S214T|CACNB2_ENST00000377329.4_Missense_Mutation_p.S160T|CACNB2_ENST00000377319.3_Missense_Mutation_p.S159T|CACNB2_ENST00000377328.1_Intron	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	214	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.S160T(1)|p.S159T(1)|p.S214T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATAGTACCTAGTTCCAGAAAA	0.373000													9	43					0	0	0.008291	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102508450	102508450	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:102508450C>T	ENST00000360184.4	+	66	12367	c.12203C>T	c.(12202-12204)tCa>tTa	p.S4068L	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4068	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.S4068L(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGATCACTTCAATTGCAATC	0.542000													24	45					0	0	0.004656	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106815880	106815880	+	RNA	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:106815880C>G	ENST00000390615.2	-	0	272																											GCCACCCACTCCAGCCCCTTG	0.542000													42	26					0	0	0.002852	0	0
KIF5A	3798	broad.mit.edu	37	12	57972080	57972080	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:57972080C>A	ENST00000455537.2	+	23	2767	c.2493C>A	c.(2491-2493)tcC>tcA	p.S831S	KIF5A_ENST00000286452.5_Silent_p.S742S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	831					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.S831S(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGAAGATTTCCTTTCTTGAGA	0.483000													49	105					2.74695e-27	5.393e-27	0.003610	1	0
PHACTR4	65979	broad.mit.edu	37	1	28818172	28818172	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:28818172G>T	ENST00000373839.3	+	12	2150	c.1889G>T	c.(1888-1890)aGg>aTg	p.R630M	PHACTR4_ENST00000373836.3_Missense_Mutation_p.R640M|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	630							actin binding|protein phosphatase inhibitor activity	p.R640M(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGTCAAAGGCCAACTGTC	0.448000													35	82					1.836e-18	3.29521e-18	0.003755	1	0
NUPR1	26471	broad.mit.edu	37	16	28550162	28550162	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr16:28550162T>G	ENST00000324873.6	-	1	333	c.67A>C	c.(67-69)Agc>Cgc	p.S23R	NUPR1_ENST00000395641.2_Missense_Mutation_p.S23R	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	23					cell growth|induction of apoptosis	nucleus		p.S23R(1)		breast(1)|large_intestine(1)|lung(1)	3						TCATCCAGGCTGGAGTCCTCG	0.627000													18	56					0	0	0.006122	0	0
DLX2	1746	broad.mit.edu	37	2	172966194	172966194	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:172966194G>T	ENST00000234198.4	-	2	942	c.581C>A	c.(580-582)aCt>aAt	p.T194N	DLX2_ENST00000466293.2_Missense_Mutation_p.T194N	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T194N(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCCCACCTGAGTCTGGGTGAG	0.602000													3	10					6.4e-05	8.41093e-05	0.004672	1	0
BOC	91653	broad.mit.edu	37	3	113002297	113002297	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:113002297C>A	ENST00000495514.1	+	16	3175	c.2471C>A	c.(2470-2472)cCa>cAa	p.P824Q	BOC_ENST00000273395.4_Missense_Mutation_p.P825Q|BOC_ENST00000355385.3_Missense_Mutation_p.P824Q			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	824					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.P824Q(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTGCCACCCCCAACTCTGGCC	0.557000													66	164					1.37693e-34	2.80638e-34	0.003610	1	0
RNASE13	440163	broad.mit.edu	37	14	21502073	21502073	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:21502073G>T	ENST00000382951.3	-	2	512	c.375C>A	c.(373-375)taC>taA	p.Y125*	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	125						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.Y125*(1)		cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GGGTGCTATTGTAGTAGCAGC	0.498000													21	171					1.55795e-14	2.63863e-14	0.001882	1	0
FAM208B	54906	broad.mit.edu	37	10	5788306	5788306	+	Silent	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr10:5788306A>G	ENST00000328090.5	+	15	3547	c.2922A>G	c.(2920-2922)caA>caG	p.Q974Q		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	974								p.Q974Q(1)									CTGTTACTCAAGCCACATTCA	0.463000													6	85					0	0	0.001168	0	0
INTS5	80789	broad.mit.edu	37	11	62416483	62416483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:62416483C>A	ENST00000330574.2	-	2	1121	c.1069G>T	c.(1069-1071)Gga>Tga	p.G357*		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	357					snRNA processing	integral to membrane|integrator complex	protein binding	p.G357*(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACAAGCTCTCCAGAGACAGTG	0.602000													25	56					5.35047e-06	7.29059e-06	0.003330	1	0
NLRP2	55655	broad.mit.edu	37	19	55494060	55494060	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:55494060C>A	ENST00000543010.1	+	6	1137	c.994C>A	c.(994-996)Ctg>Atg	p.L332M	NLRP2_ENST00000448584.2_Missense_Mutation_p.L332M|NLRP2_ENST00000538819.1_Missense_Mutation_p.L308M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L310M|NLRP2_ENST00000427260.2_Missense_Mutation_p.L309M|NLRP2_ENST00000537859.1_Missense_Mutation_p.L310M|NLRP2_ENST00000391721.4_Missense_Mutation_p.L308M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L329M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	332	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.L332M(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAAGGCCGCCCTGCTGGTCAC	0.652000													6	27					0.00116845	0.00147126	0.001168	1	0
TBX5	6910	broad.mit.edu	37	12	114793673	114793673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:114793673G>T	ENST00000310346.4	-	9	1887	c.1221C>A	c.(1219-1221)taC>taA	p.Y407*	TBX5_ENST00000349716.5_Nonsense_Mutation_p.Y357*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.Y407*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	407					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.Y407*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TGCAGCTGCTGTAGGAAGGCA	0.647000													18	52					3.32936e-07	4.71006e-07	0.006122	1	0
COX19	90639	broad.mit.edu	37	7	1012907	1012907	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:1012907T>C	ENST00000344111.3	-	2	193	c.104A>G	c.(103-105)gAg>gGg	p.E35G		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	35	CHCH.					cytosol		p.E35G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		CATGAATTTCTCTTTAAAGCT	0.363000													8	64					0	0	0.003080	0	0
RB1	5925	broad.mit.edu	37	13	48947605	48947605	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr13:48947605G>T	ENST00000267163.4	+	12	1330	c.1192G>T	c.(1192-1194)Gaa>Taa	p.E398*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	398	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.E398L(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCAACCTTCAGAAAATCTGAT	0.284000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			5	197					0.000157383	0.00020241	0.003080	1	0
UGT1A7	54577	broad.mit.edu	37	2	234590853	234590853	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:234590853C>T	ENST00000373426.3	+	1	270	c.270C>T	c.(268-270)ttC>ttT	p.F90F	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2												p.F90F(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACCGGGAGTTCATGGTTTTTG	0.433000													55	139					0	0	0.003610	0	0
IDH1	3417	broad.mit.edu	37	2	209103826	209103826	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:209103826C>A	ENST00000415913.1	-	9	1504	c.1123G>T	c.(1123-1125)Gac>Tac	p.D375Y	IDH1_ENST00000345146.2_Missense_Mutation_p.D375Y|IDH1_ENST00000446179.1_Missense_Mutation_p.D375Y			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	375					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.D375Y(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GCAGCCAAGTCCTTGGTCATG	0.423000			Mis		gliobastoma								19	79					1.78486e-19	3.25197e-19	0.007413	1	0
RPS6KA2	6196	broad.mit.edu	37	6	166872949	166872949	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:166872949G>A	ENST00000510118.1	-	14	1478	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R266W|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R363W|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.R355W|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R266W			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	355	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity	p.R363W(1)|p.R355W(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GTGGGCGTCCGCGCTGTGAAC	0.552000													4	20					0	0	0.000248	0	0
ADORA3	140	broad.mit.edu	37	1	112028429	112028429	+	Silent	SNP	C	C	T	rs138501072		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:112028429C>T	ENST00000369716.4	-	5	1039	c.906G>A	c.(904-906)acG>acA	p.T302T	ADORA3_ENST00000369717.4_Silent_p.T221T	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.T302T(1)|p.T221T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TTCCCAAACCCGTGATCAGTA	0.448000													13	57					0	0	0.004007	0	0
MRGBP	55257	broad.mit.edu	37	20	61430850	61430850	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr20:61430850C>G	ENST00000370487.3	+	5	541	c.470C>G	c.(469-471)tCc>tGc	p.S157C		NM_018270.4	NP_060740.1			MRG/MORF4L binding protein									p.S157C(1)									TCAGAAAAATCCAGCAAAGAC	0.453000													9	170					0	0	0.004482	0	0
MGAM	8972	broad.mit.edu	37	7	141738391	141738391	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:141738391C>A	ENST00000475668.2	+	19	2346	c.2292C>A	c.(2290-2292)ctC>ctA	p.L764L	MGAM_ENST00000549489.2_Silent_p.L764L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	764	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.L764L(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGCCCGGCCTCCTCATCACTC	0.498000													8	22					0.00307968	0.00382771	0.003080	1	0
VPS41	27072	broad.mit.edu	37	7	38783118	38783118	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:38783118G>A	ENST00000310301.4	-	24	2060	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	VPS41_ENST00000395969.2_Missense_Mutation_p.A644V	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	669					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	p.A669V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CATCTTCAGGGCACTTCGGCT	0.368000													4	103					0	0	0.000602	0	0
MUC7	4589	broad.mit.edu	37	4	71347156	71347156	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr4:71347156C>A	ENST00000413702.1	+	4	983	c.695C>A	c.(694-696)cCa>cAa	p.P232Q	MUC7_ENST00000456088.1_Missense_Mutation_p.P232Q|MUC7_ENST00000304887.5_Missense_Mutation_p.P232Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	232	Thr-rich.					extracellular region	protein binding	p.P232Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCAGCTCCACCAGAGACCACA	0.587000													66	114					1.63498e-16	2.85973e-16	0.003610	1	0
OR2L3	391192	broad.mit.edu	37	1	248224863	248224863	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:248224863A>C	ENST00000359959.3	+	1	880	c.880A>C	c.(880-882)Aag>Cag	p.K294Q	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K294Q(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTGAGGAACAAGGAGGTGAT	0.498000													27	79					0	0	0.006320	0	0
CD1D	912	broad.mit.edu	37	1	158152851	158152851	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:158152851G>T	ENST00000368171.3	+	5	1290	c.791G>T	c.(790-792)cGa>cTa	p.R264L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	264	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.R264L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGGTATCTCCGAGCAACCCTG	0.617000													49	95					4.86159e-25	9.42914e-25	0.003610	1	0
SLCO1A2	6579	broad.mit.edu	37	12	21471751	21471751	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:21471751G>C	ENST00000307378.6	-	4	887	c.167C>G	c.(166-168)tCt>tGt	p.S56C	SLCO1A2_ENST00000473830.1_5'UTR|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S56C|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S54C|SLCO1A2_ENST00000537524.1_De_novo_Start_InFrame|SLCO1A2_ENST00000458504.1_Intron	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	56					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S56C(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TCCAACTAGAGATGTTGGGAT	0.338000													37	90					0	0	0.006230	0	0
PDZRN4	29951	broad.mit.edu	37	12	41582588	41582588	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:41582588C>A	ENST00000402685.2	+	1	339	c.331C>A	c.(331-333)Cgg>Agg	p.R111R		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	111							ubiquitin-protein ligase activity|zinc ion binding	p.R111R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CCCTGCCCGCCGGCTCCGCAG	0.791000													4	5					1.23904e-05	1.64181e-05	0.000602	1	0
ODF1	4956	broad.mit.edu	37	8	103572936	103572936	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:103572936G>T	ENST00000285402.3	+	2	733	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	193					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	p.G193C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CTATGGGCTCGGCAGCTGTGT	0.562000													21	84					1.2644e-06	1.74764e-06	0.001523	1	0
REST	5978	broad.mit.edu	37	4	57777171	57777171	+	Missense_Mutation	SNP	C	C	G	rs149829250	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr4:57777171C>G	ENST00000309042.7	+	2	681	c.367C>G	c.(367-369)Cct>Gct	p.P123A		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	123					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.P123A(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGAACCTCAGCCTGTATTTGA	0.463000													18	60					0	0	0.008871	0	0
SASS6	163786	broad.mit.edu	37	1	100572478	100572478	+	Silent	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:100572478A>G	ENST00000287482.5	-	12	1538	c.1398T>C	c.(1396-1398)aaT>aaC	p.N466N	SASS6_ENST00000535161.1_Silent_p.N299N|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	466					centriole replication	centriole		p.N466N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ACTTTTCATTATTTTTTAGAA	0.308000													5	26					0	0	0.001168	0	0
CYC1	1537	broad.mit.edu	37	8	145151255	145151255	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:145151255G>A	ENST00000318911.4	+	4	542	c.469G>A	c.(469-471)Ggc>Agc	p.G157S		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	157	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	p.G157S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTTCAAGACGGCCCCAATGA	0.587000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	283					0	0	0.005524	0	0
NUP155	9631	broad.mit.edu	37	5	37299057	37299057	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:37299057T>C	ENST00000231498.3	-	32	3909	c.3706A>G	c.(3706-3708)Agc>Ggc	p.S1236G	NUP155_ENST00000513532.1_Missense_Mutation_p.S1172G|NUP155_ENST00000381843.2_Missense_Mutation_p.S1177G|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1236					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.S1236G(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCGAGGAGCTCAATGTCACA	0.368000													3	46					0	0	0.000602	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550609	8550609	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:8550609G>A	ENST00000348943.3	+	15	1412	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	HNRNPM_ENST00000325495.4_Missense_Mutation_p.E433K	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	433	Poly-Gly.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	p.E433K(1)|p.E433Q(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CGTGGGCTCCGAGATCGAGCG	0.706000													12	131					0	0	0.000978	0	0
LGMN	5641	broad.mit.edu	37	14	93199091	93199091	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:93199091C>A	ENST00000393218.2	-	3	378	c.41G>T	c.(40-42)gGc>gTc	p.G14V	LGMN_ENST00000334869.4_Missense_Mutation_p.G14V|LGMN_ENST00000555699.1_Missense_Mutation_p.G14V|LGMN_ENST00000557434.1_Missense_Mutation_p.G14V	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	14					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	p.G14V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GGCACCAATGCCCAGGGCCAC	0.483000													32	121					1.06801e-11	1.72387e-11	0.001786	1	0
TNMD	64102	broad.mit.edu	37	X	99854659	99854659	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chrX:99854659G>T	ENST00000373031.4	+	7	1116	c.899G>T	c.(898-900)tGt>tTt	p.C300F		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	300						integral to membrane		p.C300F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CGAGTCATCTGTCGTGTCATC	0.507000													13	8					5.50884e-06	7.40154e-06	0.001368	1	0
IGLL5	100423062	broad.mit.edu	37	22	23237608	23237608	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr22:23237608C>T	ENST00000532223.1	+	3	656	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F	IGLL5_ENST00000526893.1_Missense_Mutation_p.L127F|IGLL5_ENST00000531372.1_3'UTR|IGLC1_ENST00000390321.2_RNA			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	127	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region		p.L127F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CTCTGAGGAGCTCCAAGCCAA	0.617000													11	27					0	0	0.000978	0	0
OR11L1	391189	broad.mit.edu	37	1	248005039	248005039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:248005039G>A	ENST00000355784.2	-	1	215	c.160C>T	c.(160-162)Cga>Tga	p.R54*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R54*(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGTGCAGTCGCAGGCCCTGG	0.537000													6	24					0	0	0.001168	0	0
AFG3L2	10939	broad.mit.edu	37	18	12356752	12356752	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr18:12356752A>G	ENST00000269143.3	-	9	1336	c.1105T>C	c.(1105-1107)Ttc>Ctc	p.F369L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	369					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.F369L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ACGGTGATGAAGGGGACATTG	0.512000													3	67					0	0	0.004672	0	0
PMS1	5378	broad.mit.edu	37	2	190738322	190738322	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:190738322A>T	ENST00000441310.2	+	12	2807	c.2574A>T	c.(2572-2574)ttA>ttT	p.L858F	PMS1_ENST00000447232.2_Missense_Mutation_p.L696F|PMS1_ENST00000409823.3_Missense_Mutation_p.L819F|PMS1_ENST00000418224.3_Missense_Mutation_p.L682F|PMS1_ENST00000432292.3_Missense_Mutation_p.L682F	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	858					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.L858F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ATGCTATATTAAACAGAAATG	0.303000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					38	77					0	0	0.005524	0	0
RB1	5925	broad.mit.edu	37	13	48947606	48947606	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr13:48947606A>T	ENST00000267163.4	+	12	1331	c.1193A>T	c.(1192-1194)gAa>gTa	p.E398V		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	398	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.E398L(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAACCTTCAGAAAATCTGATT	0.289000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			5	195					0	0	0.003080	0	0
ABHD2	11057	broad.mit.edu	37	15	89698682	89698682	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr15:89698682A>G	ENST00000352732.5	+	5	975	c.455A>G	c.(454-456)aAa>aGa	p.K152R	ABHD2_ENST00000565973.1_Missense_Mutation_p.K152R|ABHD2_ENST00000355100.3_Missense_Mutation_p.K152R	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	152						integral to membrane	carboxylesterase activity	p.K152R(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TACGCCCAGAAAAATGGCTAT	0.507000													18	113					0	0	0.006122	0	0
KLHDC4	54758	broad.mit.edu	37	16	87743082	87743082	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr16:87743082C>A	ENST00000270583.5	-	10	1294	c.1236G>T	c.(1234-1236)cgG>cgT	p.R412R	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Silent_p.R381R|KLHDC4_ENST00000353170.5_Silent_p.R355R	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	412								p.R412R(1)		breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CGTCCTCAGACCGGGGCTGCC	0.682000													7	15					0.000274275	0.000349937	0.004482	1	0
GPR35	2859	broad.mit.edu	37	2	241569993	241569993	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:241569993G>A	ENST00000319838.5	+	6	1566	c.624G>A	c.(622-624)caG>caA	p.Q208Q	GPR35_ENST00000407714.1_Silent_p.Q208Q|GPR35_ENST00000438013.2_Silent_p.Q239Q|GPR35_ENST00000430267.1_Silent_p.Q208Q|GPR35_ENST00000403859.1_Silent_p.Q208Q	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	208						integral to plasma membrane	G-protein coupled receptor activity	p.Q208Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACGTGGGGCAGGCAGAGGCCA	0.687000													21	28					0	0	0.001523	0	0
DNA2	1763	broad.mit.edu	37	10	70202766	70202766	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr10:70202766G>A	ENST00000399180.2	-	9	1580	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	DNA2_ENST00000399179.2_Silent_p.F441F|DNA2_ENST00000358410.3_Silent_p.F441F			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	441					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	p.F527F(1)|p.F441F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ACCAAAGGCTGAAATATTCTA	0.398000													9	24					0	0	0.004482	0	0
FAM19A3	284467	broad.mit.edu	37	1	113269262	113269262	+	Nonstop_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:113269262G>T	ENST00000361886.3	+	5	461	c.402G>T	c.(400-402)taG>taT	p.*134Y	FAM19A3_ENST00000369630.3_Missense_Mutation_p.S157I	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region		p.S157I(1)		lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACACGATAGCTCTTGGGGG	0.502000													15	43					6.31663e-08	9.31993e-08	0.003163	1	0
KLHL1	57626	broad.mit.edu	37	13	70456453	70456453	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr13:70456453G>A	ENST00000377844.4	-	5	1948	c.1189C>T	c.(1189-1191)Ctt>Ttt	p.L397F	KLHL1_ENST00000545028.1_Missense_Mutation_p.L204F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	397					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.L397F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGGCAAGAAGCATGCTCAGG	0.398000													5	94					0	0	0.001168	0	0
WDR52	55779	broad.mit.edu	37	3	113119471	113119471	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:113119471G>T	ENST00000393845.2	-	12	1461	c.1395C>A	c.(1393-1395)ctC>ctA	p.L465L	WDR52_ENST00000295868.2_Silent_p.L465L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	465								p.L465L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GGAAGGAGAAGAGGCATTCTG	0.408000													7	77					0.00307968	0.00382771	0.003080	1	0
MDH1B	130752	broad.mit.edu	37	2	207621721	207621721	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:207621721A>C	ENST00000374412.3	-	4	589	c.314T>G	c.(313-315)aTg>aGg	p.M105R	MDH1B_ENST00000454776.2_Missense_Mutation_p.M105R|MDH1B_ENST00000449792.1_Missense_Mutation_p.M7R|MDH1B_ENST00000392214.2_Missense_Mutation_p.M105R	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	105					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	p.M105R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AGCAATTACCATCATCAGTTC	0.418000													14	53					0	0	0.004007	0	0
FAM57B	83723	broad.mit.edu	37	16	30041831	30041831	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr16:30041831C>A	ENST00000380495.4	-	1	749	c.18G>T	c.(16-18)gtG>gtT	p.V6V		NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	6						endoplasmic reticulum|integral to membrane		p.V6V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCCCCCCGGCCACCATCGGGG	0.672000													14	22					7.93312e-07	1.10284e-06	0.002450	1	0
DAB2	1601	broad.mit.edu	37	5	39383196	39383196	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:39383196T>A	ENST00000545653.1	-	9	1332	c.802A>T	c.(802-804)Acc>Tcc	p.T268S	DAB2_ENST00000509337.1_Missense_Mutation_p.T268S|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Missense_Mutation_p.T289S	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	289					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.T289S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGATTAGGGGTGGGAAAGAAG	0.473000													47	160					0	0	0.003610	0	0
COL28A1	340267	broad.mit.edu	37	7	7480482	7480482	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:7480482C>A	ENST00000399429.3	-	21	1801	c.1661G>T	c.(1660-1662)gGc>gTc	p.G554V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	554	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.G554V(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCTTTCTTGCCTTCGTCACC	0.443000													15	50					4.7546e-09	7.3066e-09	0.004007	1	0
SYCE1	93426	broad.mit.edu	37	10	135367822	135367822	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr10:135367822G>T	ENST00000368517.3	-	13	959	c.821C>A	c.(820-822)cCa>cAa	p.P274Q	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Missense_Mutation_p.P274Q	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	311	Gln-rich.				cell division	central element		p.P274Q(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGGTCTACCTGGTCTGGGAGC	0.468000													25	71					1.5548e-18	2.80097e-18	0.005443	1	0
HMMR	3161	broad.mit.edu	37	5	162896811	162896811	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:162896811G>T	ENST00000416990.2	+	5	590	c.93G>T	c.(91-93)agG>agT	p.R31S	HMMR_ENST00000432118.2_Missense_Mutation_p.R59S|HMMR_ENST00000393915.4_Missense_Mutation_p.R146S|HMMR_ENST00000353866.3_Missense_Mutation_p.R130S|HMMR_ENST00000358715.3_Missense_Mutation_p.R145S			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	145						cell surface|cytoplasm	hyaluronic acid binding	p.R145S(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AATTGACCAGGACTAATGAAC	0.373000													19	22					3.85864e-22	7.25003e-22	0.002780	1	0
UNC79	57578	broad.mit.edu	37	14	94048570	94048570	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:94048570G>C	ENST00000553484.1	+	20	2837	c.2683G>C	c.(2683-2685)Gat>Cat	p.D895H	UNC79_ENST00000256339.4_Missense_Mutation_p.D718H|UNC79_ENST00000393151.2_Missense_Mutation_p.D895H|UNC79_ENST00000555664.1_Missense_Mutation_p.D895H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	895						integral to membrane		p.D718H(1)|p.D895H(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAGCCTGGAGGATAGCCTCCT	0.562000													3	108					0	0	0.004672	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529975	80529975	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:80529975C>A	ENST00000295057.3	-	2	1626	c.970G>T	c.(970-972)Gcc>Tcc	p.A324S	LRRTM1_ENST00000409148.1_Missense_Mutation_p.A324S|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	324	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.A324S(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGGCTAGGGCACACACGTTG	0.642000										HNSCC(69;0.2)			4	24					1.024e-07	1.50625e-07	0.000602	1	0
ZNF697	90874	broad.mit.edu	37	1	120166700	120166700	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:120166700C>G	ENST00000421812.2	-	3	385	c.266G>C	c.(265-267)gGg>gCg	p.G89A		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G89A(1)|p.G21R(1)		ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		ATCCTCTTCCCCACGGACAGA	0.547000													4	21					0	0	0.000602	0	0
SART1	9092	broad.mit.edu	37	11	65743992	65743992	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:65743992C>G	ENST00000312397.5	+	13	1791	c.1699C>G	c.(1699-1701)Ccc>Gcc	p.P567A		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	567					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		p.P567A(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGGGAGATCCCCACCTACGG	0.697000													8	32					0	0	0.000978	0	0
CSPP1	79848	broad.mit.edu	37	8	68031019	68031019	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:68031019A>G	ENST00000262210.5	+	13	1676	c.1645A>G	c.(1645-1647)Agt>Ggt	p.S549G	CSPP1_ENST00000412460.1_Missense_Mutation_p.S255G	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	584						centrosome|microtubule|spindle		p.S549G(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGCTTATGTTAGTGCTCCTGT	0.308000													11	97					0	0	0.003163	0	0
DCPS	28960	broad.mit.edu	37	11	126215396	126215396	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:126215396T>C	ENST00000263579.4	+	6	1231	c.902T>C	c.(901-903)gTg>gCg	p.V301A	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	301					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	p.V301A(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CTGGCTGAGGTGATCGAGAAC	0.652000													19	108					0	0	0.008871	0	0
BRD7	29117	broad.mit.edu	37	16	50388360	50388360	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr16:50388360T>C	ENST00000394688.3	-	4	581	c.422A>G	c.(421-423)aAt>aGt	p.N141S	BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Missense_Mutation_p.N141S			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	141					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.N141S(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CATCAGTTGATTCAAAGCTTC	0.328000													31	328					0	0	0.008361	0	0
PRMT2	3275	broad.mit.edu	37	21	48064292	48064292	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr21:48064292G>T	ENST00000397637.1	+	4	1173	c.219G>T	c.(217-219)gcG>gcT	p.A73A	PRMT2_ENST00000458387.2_Silent_p.A73A|PRMT2_ENST00000334494.4_Silent_p.A73A|PRMT2_ENST00000291705.6_Silent_p.A73A|PRMT2_ENST00000440086.1_Silent_p.A73A|PRMT2_ENST00000397628.1_Silent_p.A73A|PRMT2_ENST00000355680.3_Silent_p.A73A|PRMT2_ENST00000397638.2_Silent_p.A73A|PRMT2_ENST00000451211.2_Silent_p.A73A			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	73	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	p.A73A(2)		NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GTGAGCGTGCGGGCTGCTGTG	0.488000													54	67					9.22156e-22	1.7259e-21	0.003610	1	0
TMEM252	169693	broad.mit.edu	37	9	71152351	71152351	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:71152351G>T	ENST00000377311.3	-	2	389	c.337C>A	c.(337-339)Cct>Act	p.P113T		NM_153237.1	NP_694969.1			transmembrane protein 252									p.P113T(1)									CTCTCTGCAGGACAGCTCTGC	0.527000													15	60					1.99824e-07	2.86911e-07	0.004990	1	0
BAI3	577	broad.mit.edu	37	6	69728293	69728293	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:69728293G>A	ENST00000370598.1	+	13	2830	c.2009G>A	c.(2008-2010)gGg>gAg	p.G670E		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	670					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G670E(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTTATCCAGGGTCAATAGAG	0.303000													7	108					0	0	0.003080	0	0
SPSB2	84727	broad.mit.edu	37	12	6981812	6981812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:6981812G>T	ENST00000519357.1	-	2	440	c.254C>A	c.(253-255)tCa>tAa	p.S85*	SPSB2_ENST00000524270.1_Nonsense_Mutation_p.S85*|SPSB2_ENST00000523102.1_Nonsense_Mutation_p.S85*			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	85	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding	p.S85*(1)		kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CAGGCCCCTTGAATAGCCCCT	0.662000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	31					1.10513e-12	1.80193e-12	0.002299	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110523010	110523010	+	Silent	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:110523010A>T	ENST00000378402.5	+	71	11504	c.11400A>T	c.(11398-11400)ccA>ccT	p.P3800P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3800					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P3804P(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTAGGCCCACAGGATCATG	0.373000										HNSCC(38;0.096)			38	487					0	0	0.002852	0	0
LPPR1	54886	broad.mit.edu	37	9	104071741	104071741	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:104071741A>G	ENST00000374874.3	+	5	1073	c.634A>G	c.(634-636)Acg>Gcg	p.T212A	LPPR1_ENST00000395056.2_Missense_Mutation_p.T212A	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		212						integral to membrane	catalytic activity	p.T212A(1)									CTTATATGCCACGGTGAGTGT	0.483000													16	52					0	0	0.007413	0	0
OR5K3	403277	broad.mit.edu	37	3	98109910	98109910	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:98109910C>A	ENST00000383695.1	+	1	401	c.401C>A	c.(400-402)aCc>aAc	p.T134N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T134N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CAGTACCACACCATGATGTCC	0.468000													54	138					5.57489e-27	1.09005e-26	0.003610	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													4	76					2.56e-06	3.50815e-06	0.000248	1	0
FAT4	79633	broad.mit.edu	37	4	126372404	126372404	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr4:126372404G>T	ENST00000394329.3	+	9	10246	c.10233G>T	c.(10231-10233)gtG>gtT	p.V3411V	FAT4_ENST00000335110.5_Silent_p.V1709V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3411	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V3411V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTACAGTGTGCAGATCAGTG	0.463000													14	192					4.36969e-10	6.8687e-10	0.001855	1	0
CLK2	1196	broad.mit.edu	37	1	155237843	155237843	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:155237843T>C	ENST00000368361.4	-	6	944	c.629A>G	c.(628-630)aAc>aGc	p.N210S	CLK2_ENST00000536801.1_Missense_Mutation_p.N210S|CLK2_ENST00000355560.4_Missense_Mutation_p.N208S|CLK2_ENST00000361168.5_Missense_Mutation_p.N209S|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	210	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N210S(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCTAGCACGTTGATCTCAAG	0.498000								Other conserved DNA damage response genes					85	125					0	0	0.003610	0	0
FAM71E1	112703	broad.mit.edu	37	19	50979147	50979147	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:50979147C>T	ENST00000600100.1	-	2	667	c.303G>A	c.(301-303)caG>caA	p.Q101Q	FAM71E1_ENST00000595790.1_Silent_p.Q101Q			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	101								p.Q101Q(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		ATTCGCCGCTCTGGAGGTAGC	0.627000													11	9					0	0	0.001855	0	0
ZNF202	7753	broad.mit.edu	37	11	123597329	123597329	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:123597329G>A	ENST00000336139.4	-	8	1685	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	ZNF202_ENST00000529691.1_Silent_p.A441A|ZNF202_ENST00000530393.1_Silent_p.A441A			O95125	ZN202_HUMAN	zinc finger protein 202	441					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A441A(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TTTGGTGCCTGGCAAGATGTG	0.468000													47	96					0	0	0.003610	0	0
ANO6	196527	broad.mit.edu	37	12	45781954	45781954	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:45781954T>A	ENST00000320560.8	+	11	1378	c.1176T>A	c.(1174-1176)ttT>ttA	p.F392L	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.F374L|ANO6_ENST00000435642.1_Missense_Mutation_p.F392L|ANO6_ENST00000425752.2_Missense_Mutation_p.F392L|ANO6_ENST00000423947.3_Missense_Mutation_p.F413L	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	392					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.F392L(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTACCTTGTTTTTGGAGTTTT	0.398000													7	136					0	0	0.004482	0	0
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:78790192C>G	ENST00000376767.3	+	14	2559	c.2047C>G	c.(2047-2049)Cga>Gga	p.R683G	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373000													3	12					0	0	0.004672	0	0
UMPS	7372	broad.mit.edu	37	3	124462773	124462773	+	Missense_Mutation	SNP	G	G	A	rs121917891		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:124462773G>A	ENST00000232607.2	+	6	1391	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	UMPS_ENST00000413078.2_Missense_Mutation_p.G154S|UMPS_ENST00000538242.1_Missense_Mutation_p.G251S|UMPS_ENST00000536109.1_Missense_Mutation_p.G337S	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	429	OMPdecase.		G -> R (in ORAC1).		'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	p.G429S(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		AGATAATCTTGGCCAACAGTA	0.398000													28	59					0	0	0.001786	0	0
CADM1	23705	broad.mit.edu	37	11	115049441	115049441	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:115049441C>A	ENST00000542447.2	-	8	1177	c.1049G>T	c.(1048-1050)gGt>gTt	p.G350V	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Missense_Mutation_p.G378V|CADM1_ENST00000537058.1_Missense_Mutation_p.G389V|CADM1_ENST00000331581.6_Missense_Mutation_p.G407V|CADM1_ENST00000536727.1_Missense_Mutation_p.G379V	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	378				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.G378V(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CACGACGCCACCGATCACGGC	0.512000													10	131					7.48243e-07	1.0432e-06	0.006214	1	0
USP47	55031	broad.mit.edu	37	11	11976665	11976665	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:11976665G>T	ENST00000339865.5	+	26	4406	c.3643G>T	c.(3643-3645)Gtc>Ttc	p.V1215F	USP47_ENST00000399455.2_Missense_Mutation_p.V1303F|USP47_ENST00000527733.1_Missense_Mutation_p.V1283F|USP47_ENST00000539466.1_Missense_Mutation_p.V85F|USP47_ENST00000305481.6_3'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1303					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	p.V1215F(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TACCCTGAATGTCTGGCCTCT	0.358000													46	101					2.56662e-36	5.27582e-36	0.003214	1	0
AMBRA1	55626	broad.mit.edu	37	11	46455071	46455071	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:46455071G>A	ENST00000458649.2	-	14	3347	c.2929C>T	c.(2929-2931)Cag>Tag	p.Q977*	AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q948*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q948*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q917*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q858*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q887*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q917*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	977					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		p.Q977*(1)|p.Q887*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTGAAGACCTGGGCCACCATG	0.582000													8	20					0	0	0.003080	0	0
PDE6A	5145	broad.mit.edu	37	5	149240474	149240474	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:149240474G>T	ENST00000255266.5	-	22	2686	c.2567C>A	c.(2566-2568)tCc>tAc	p.S856Y		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	856					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.S856Y(1)|p.S856C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GATGCAGCAGGACTTGGATGT	0.562000													9	24					1.08611e-07	1.57355e-07	0.000978	1	0
CRYGS	1427	broad.mit.edu	37	3	186257351	186257351	+	Silent	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:186257351A>T	ENST00000392499.2	-	3	396	c.57T>A	c.(55-57)cgT>cgA	p.R19R	CRYGS_ENST00000307944.5_Silent_p.R19R	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	19	Beta/gamma crystallin 'Greek key' 1.						structural constituent of eye lens	p.R19R(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		AGTCATAGCGACGGCCTTGAA	0.443000													24	40					0	0	0.003954	0	0
URI1	8725	broad.mit.edu	37	19	30498451	30498451	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:30498451G>C	ENST00000392271.1	+	7	889	c.364G>C	c.(364-366)Gat>Cat	p.D122H	URI1_ENST00000574176.1_3'UTR|URI1_ENST00000542441.2_Missense_Mutation_p.D198H|URI1_ENST00000360605.4_Missense_Mutation_p.D180H|URI1_ENST00000312051.6_Missense_Mutation_p.D158H	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	198					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	p.D198H(1)									TATTGCAAATGATGTGAAATC	0.383000													6	36					0	0	0.001168	0	0
PCDH10	57575	broad.mit.edu	37	4	134071514	134071514	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr4:134071514G>T	ENST00000264360.4	+	1	1045	c.219G>T	c.(217-219)ctG>ctT	p.L73L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	73	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L73L(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAGGGGTGCTGTACGTGAACG	0.542000													7	112					0.00307968	0.00382771	0.003080	1	0
SAMD9	54809	broad.mit.edu	37	7	92730825	92730825	+	Missense_Mutation	SNP	C	C	A	rs149966534		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:92730825C>A	ENST00000379958.2	-	3	4855	c.4586G>T	c.(4585-4587)cGt>cTt	p.R1529L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1529						cytoplasm		p.R1529L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCTTGTAAACGAAGCAAAAG	0.368000													19	60					3.32936e-07	4.71006e-07	0.006122	1	0
WDR54	84058	broad.mit.edu	37	2	74650614	74650614	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:74650614T>G	ENST00000348227.4	+	5	450	c.362T>G	c.(361-363)gTg>gGg	p.V121G	WDR54_ENST00000461531.1_3'UTR|WDR54_ENST00000409791.1_Missense_Mutation_p.V69G	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	121								p.V121G(1)		breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GTACAGGCTGTGTTTGCCCGG	0.587000													23	62					0	0	0.005443	0	0
PGK2	5232	broad.mit.edu	37	6	49753968	49753968	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:49753968C>A	ENST00000304801.3	-	1	1085	c.933G>T	c.(931-933)tgG>tgT	p.W311C		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	311					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.W311C(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCAAACCCATCCAGCCAGGAG	0.453000													111	122					8.62921e-31	1.72226e-30	0.003610	1	0
TUBA3C	7278	broad.mit.edu	37	13	19751729	19751729	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr13:19751729G>T	ENST00000400113.3	-	4	498	c.394C>A	c.(394-396)Ctg>Atg	p.L132M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	132					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.L132M(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AAGCCCTGCAGTCCCGTGCAC	0.582000													15	52					1.49906e-05	1.97547e-05	0.002450	1	0
A2M	2	broad.mit.edu	37	12	9231857	9231857	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:9231857C>A	ENST00000318602.7	-	25	3409	c.3102G>T	c.(3100-3102)agG>agT	p.R1034S	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1034					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.R1034S(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGCCCTGGTTCCTGCCATATC	0.423000													20	61					5.26018e-13	8.63531e-13	0.001882	1	0
ARHGAP11A	9824	broad.mit.edu	37	15	32915737	32915737	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr15:32915737C>A	ENST00000361627.3	+	3	967	c.245C>A	c.(244-246)aCc>aAc	p.T82N	ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.T82N|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.T82N|ARHGAP11A_ENST00000543522.1_5'UTR	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	82	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.T82N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CATATTCATACCGAAGGGCTT	0.378000													5	74					0.000157383	0.00020241	0.003080	1	0
RELN	5649	broad.mit.edu	37	7	103206713	103206713	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:103206713A>T	ENST00000428762.1	-	33	5053	c.4894T>A	c.(4894-4896)Tgt>Agt	p.C1632S	RELN_ENST00000343529.5_Missense_Mutation_p.C1632S|RELN_ENST00000424685.2_Missense_Mutation_p.C1632S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1632					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.C1632S(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATAGAGAGACAGTCAATATCA	0.363000													15	58					0	0	0.006122	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018234	103018234	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:103018234C>T	ENST00000306312.3	-	18	2059	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	SLC26A5_ENST00000339444.6_Missense_Mutation_p.D600N|SLC26A5_ENST00000432958.2_Missense_Mutation_p.D568N|SLC26A5_ENST00000393723.1_Missense_Mutation_p.D570N|SLC26A5_ENST00000393727.1_Missense_Mutation_p.D602N|SLC26A5_ENST00000393729.1_Missense_Mutation_p.D563N|SLC26A5_ENST00000393730.1_Missense_Mutation_p.D568N|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.D33N	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	600	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.D600N(2)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCCTCTCCATCTACTTCTGCA	0.363000													21	72					0	0	0.002299	0	0
KLHL21	9903	broad.mit.edu	37	1	6655584	6655584	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:6655584C>A	ENST00000377663.3	-	3	1644	c.1461G>T	c.(1459-1461)ccG>ccT	p.P487P	KLHL21_ENST00000467612.1_Silent_p.P120P|KLHL21_ENST00000463043.1_Silent_p.P120P|KLHL21_ENST00000377658.4_Silent_p.P487P			Q9UJP4	KLH21_HUMAN	kelch-like family member 21	487					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule		p.P487P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CGTTCCTCGTCGGGTTGTACA	0.567000													11	33					2.32078e-09	3.58938e-09	0.003163	1	0
PBDC1	51260	broad.mit.edu	37	X	75396788	75396788	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chrX:75396788G>T	ENST00000373358.3	+	5	573	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	PBDC1_ENST00000373357.3_Intron	NM_016500.3	NP_057584.2			polysaccharide biosynthesis domain containing 1									p.D124Y(1)									GCTGCGACTAGATTGTTCTCA	0.423000													29	23					3.90053e-15	6.70055e-15	0.002445	1	0
BCL2A1	597	broad.mit.edu	37	15	80260011	80260011	+	Silent	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr15:80260011A>T	ENST00000335661.6	-	2	493	c.444T>A	c.(442-444)ccT>ccA	p.P148P	BCL2A1_ENST00000267953.3_Intron	NM_001114735.1	NP_001108207.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	0					anti-apoptosis|apoptosis	cytoplasm	protein binding	p.P148P(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						CTACCAGCATAGGTGTGTGAT	0.358000													11	37					0	0	0.001855	0	0
ACAD8	27034	broad.mit.edu	37	11	134131719	134131719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:134131719G>T	ENST00000281182.4	+	9	1133	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	ACAD8_ENST00000374752.4_Nonsense_Mutation_p.E216*|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000537423.1_Nonsense_Mutation_p.E266*	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	343					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	p.E343*(1)|p.E343K(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		TCTGCAGGAGGAGAGGAAGGA	0.567000													16	31					2.62699e-14	4.40272e-14	0.003163	1	0
UIMC1	51720	broad.mit.edu	37	5	176332314	176332314	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:176332314T>A	ENST00000377219.2	-	15	2298	c.2132A>T	c.(2131-2133)aAa>aTa	p.K711I	UIMC1_ENST00000377227.4_Missense_Mutation_p.K710I|UIMC1_ENST00000506128.1_Missense_Mutation_p.K544I|UIMC1_ENST00000511320.1_Missense_Mutation_p.K710I	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	710					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	p.K710I(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGCCAGCTTTGGTCCGTGT	0.448000													9	95					0	0	0.001368	0	0
F13A1	2162	broad.mit.edu	37	6	6196057	6196057	+	Silent	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:6196057T>C	ENST00000264870.3	-	10	1543	c.1278A>G	c.(1276-1278)caA>caG	p.Q426Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	426					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.Q426Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTGCATCAAATTGGAAGCAGA	0.493000													4	76					0	0	0.000602	0	0
MSL2	55167	broad.mit.edu	37	3	135870109	135870109	+	Missense_Mutation	SNP	G	G	T	rs138536154	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:135870109G>T	ENST00000309993.2	-	2	2346	c.1614C>A	c.(1612-1614)aaC>aaA	p.N538K	MSL2_ENST00000434835.2_Missense_Mutation_p.N464K	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	538					histone H4-K16 acetylation	MSL complex	zinc ion binding	p.N538K(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGTACTAGCGTTACGCACAG	0.483000													7	79					8.12818e-05	0.000106241	0.001984	1	0
DSC3	1825	broad.mit.edu	37	18	28574418	28574418	+	Splice_Site	SNP	A	A	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr18:28574418A>C	ENST00000434452.1	-	16	2691		c.e16+1		DSC3_ENST00000360428.4_Intron	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3						homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			atttttatttaCCTTTTATGT	0.254000													7	35					0	0	0.004007	0	0
RAD23B	5887	broad.mit.edu	37	9	110068802	110068802	+	Missense_Mutation	SNP	C	C	A	rs111972101		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:110068802C>A	ENST00000358015.3	+	4	722	c.371C>A	c.(370-372)gCa>gAa	p.A124E	RAD23B_ENST00000416373.2_Missense_Mutation_p.A52E	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	124					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	p.A124E(1)		breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TCCACACCTGCATCCATCACT	0.567000								Direct reversal of damage;Nucleotide excision repair (NER)					11	91					5.50884e-06	7.40154e-06	0.001368	1	0
LRRC32	2615	broad.mit.edu	37	11	76371671	76371671	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:76371671C>G	ENST00000407242.2	-	3	1208	c.966G>C	c.(964-966)ttG>ttC	p.L322F	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.L322F|LRRC32_ENST00000260061.5_Missense_Mutation_p.L322F	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	322						integral to plasma membrane		p.L322F(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CATTGTAGCTCAAATCCAGAT	0.597000													22	45					0	0	0.002299	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502877	140502877	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:140502877C>A	ENST00000194152.1	+	1	1297	c.1297C>A	c.(1297-1299)Cag>Aag	p.Q433K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		433	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.Q433K(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAAAACCCAGCAGAACAT	0.582000													33	123					1.02151e-06	1.41598e-06	0.002836	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57867885	57867885	+	Silent	SNP	G	G	T	rs61758883	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:57867885G>T	ENST00000393797.2	-	19	2320	c.2128C>A	c.(2128-2130)Cgg>Agg	p.R710R	ARHGAP9_ENST00000550288.1_Silent_p.R699R|ARHGAP9_ENST00000424809.2_Silent_p.R620R|ARHGAP9_ENST00000430041.2_Silent_p.R436R|ARHGAP9_ENST00000393791.3_Silent_p.R620R|ARHGAP9_ENST00000356411.2_Silent_p.R639R			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	639	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.R639R(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGCAGCTCCCGGAGAAAAAGC	0.572000													5	42					1.23904e-05	1.64181e-05	0.000602	1	0
IGSF8	93185	broad.mit.edu	37	1	160063849	160063849	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:160063849G>T	ENST00000368086.1	-	3	771	c.555C>A	c.(553-555)ggC>ggA	p.G185G	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Silent_p.G185G			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	185	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.G185G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCGCCAGGCAGCCCAGTGCCA	0.672000													5	75					0.000602214	0.00076631	0.000602	1	0
DNASE2	1777	broad.mit.edu	37	19	12986926	12986926	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:12986926G>A	ENST00000222219.3	-	6	1053	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	DNASE2_ENST00000538460.1_Missense_Mutation_p.R266W	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	321					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	p.R321W(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CCCCCACCCCGTTGCTCCTCT	0.607000													13	71					0	0	0.001368	0	0
FREM1	158326	broad.mit.edu	37	9	14846066	14846066	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:14846066A>T	ENST00000380881.4	-	9	2103	c.1288T>A	c.(1288-1290)Tct>Act	p.S430T	FREM1_ENST00000422223.2_Missense_Mutation_p.S429T|FREM1_ENST00000380880.3_Missense_Mutation_p.S429T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	429					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.S430T(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGGCTCGAGACTGCCCCTCA	0.488000													6	11					0	0	0.001168	0	0
ASXL3	80816	broad.mit.edu	37	18	31324042	31324042	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr18:31324042C>A	ENST00000269197.5	+	12	4230	c.4230C>A	c.(4228-4230)caC>caA	p.H1410Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.H1410Q(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGGTTGCACACCCGACCGTCG	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	158					5.7616e-29	1.14046e-28	0.003610	1	0
CCDC108	255101	broad.mit.edu	37	2	219890792	219890792	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:219890792G>A	ENST00000341552.5	-	14	2384	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F	CCDC108_ENST00000441968.1_Silent_p.F767F|CCDC108_ENST00000453220.1_Silent_p.F767F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	767						integral to membrane	structural molecule activity	p.F767F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAAGCCAGCGAAATAGCTGT	0.597000													5	59					0	0	0.000602	0	0
ABCB9	23457	broad.mit.edu	37	12	123419912	123419912	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:123419912G>A	ENST00000542678.1	-	10	4648	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	ABCB9_ENST00000280560.8_Silent_p.L604L|ABCB9_ENST00000442833.2_Silent_p.L604L|ABCB9_ENST00000346530.5_Silent_p.L561L|ABCB9_ENST00000392439.3_Silent_p.L604L|ABCB9_ENST00000540285.1_Silent_p.L541L|ABCB9_ENST00000442028.2_Silent_p.L604L|ABCB9_ENST00000344275.7_Silent_p.L604L			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	604	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	p.L604L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ACAGTGGGCAGGCCGTAGGAG	0.617000													4	63					0	0	0.000602	0	0
OTOGL	283310	broad.mit.edu	37	12	80661044	80661044	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:80661044G>A	ENST00000458043.2	+	21	2381	c.2375G>A	c.(2374-2376)cGt>cAt	p.R792H	OTOGL_ENST00000547103.1_Missense_Mutation_p.R792H	NM_173591.3	NP_775862.3			otogelin-like									p.R792H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTCCACTGCCGTTGTCATTAT	0.403000													5	11					0	0	0.001168	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140732045	140732045	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:140732045A>T	ENST00000523390.1	+	1	2218	c.2218A>T	c.(2218-2220)Agc>Tgc	p.S740C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1												p.S740C(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCAACCACAGCGAGGGGAC	0.562000													27	131					0	0	0.006320	0	0
IL31	386653	broad.mit.edu	37	12	122657105	122657105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:122657105G>A	ENST00000377035.1	-	3	375	c.349C>T	c.(349-351)Caa>Taa	p.Q117*		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	117						extracellular space	cytokine activity	p.Q117*(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGTGCATCTTGAAATATGAGT	0.433000													18	116					0	0	0.007413	0	0
GPR108	56927	broad.mit.edu	37	19	6731116	6731116	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:6731116C>T	ENST00000264080.7	-	17	1467	c.1441G>A	c.(1441-1443)Gtg>Atg	p.V481M	GPR108_ENST00000430424.4_Missense_Mutation_p.V239M|GPR108_ENST00000598626.1_Intron	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	481						integral to membrane		p.V481M(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GAGCCCTCCACCAAGAGCTGG	0.701000													6	39					0	0	0.001984	0	0
BPTF	2186	broad.mit.edu	37	17	65871782	65871782	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr17:65871782G>T	ENST00000321892.4	+	5	2036	c.1975G>T	c.(1975-1977)Ggg>Tgg	p.G659W	BPTF_ENST00000335221.5_Missense_Mutation_p.G659W|BPTF_ENST00000424123.3_Missense_Mutation_p.G520W|BPTF_ENST00000306378.6_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	659	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.G659W(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGCCCTGTGGGGTGTCTCTC	0.522000													21	46					4.96729e-08	7.37428e-08	0.008871	1	0
BCAR1	9564	broad.mit.edu	37	16	75269174	75269174	+	Silent	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr16:75269174A>T	ENST00000546196.1	-	5	3188	c.1536T>A	c.(1534-1536)ctT>ctA	p.L512L	BCAR1_ENST00000162330.5_Silent_p.L541L|BCAR1_ENST00000418647.3_Silent_p.L587L|BCAR1_ENST00000393420.6_Silent_p.L559L|BCAR1_ENST00000393422.2_Silent_p.L559L|BCAR1_ENST00000535626.2_Silent_p.L393L|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.L559L|BCAR1_ENST00000542031.2_Silent_p.L539L|BCAR1_ENST00000538440.2_Silent_p.L541L			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	541	Ser-rich.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	p.L559L(1)|p.L587L(1)|p.L541L(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTGCCGGCTAAGCTTGGCAT	0.662000													14	33					0	0	0.003163	0	0
ZNF530	348327	broad.mit.edu	37	19	58117956	58117956	+	Missense_Mutation	SNP	G	G	A	rs35182752		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:58117956G>A	ENST00000332854.6	+	3	1283	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E355K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGTGCAGTGAATGTGGAAA	0.463000													6	116					0	0	0.001984	0	0
MUC17	140453	broad.mit.edu	37	7	100683794	100683794	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:100683794G>T	ENST00000306151.4	+	3	9161	c.9097G>T	c.(9097-9099)Ggt>Tgt	p.G3033C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3033	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.G3033C(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTGCTGAAGGTACCGGCAT	0.522000													13	573					1.05317e-09	1.6394e-09	0.002450	1	0
KLHDC10	23008	broad.mit.edu	37	7	129765721	129765721	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:129765721T>A	ENST00000335420.5	+	7	1015	c.881T>A	c.(880-882)cTt>cAt	p.L294H		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	294								p.L294H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GCATACAACCTTGAAACGAAT	0.274000													12	48					0	0	0.002450	0	0
AATK	9625	broad.mit.edu	37	17	79094822	79094822	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr17:79094822C>G	ENST00000326724.4	-	11	2938	c.2914G>C	c.(2914-2916)Ggc>Cgc	p.G972R	AATK_ENST00000417379.1_Missense_Mutation_p.G869R	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	972						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G972R(2)		endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGCCCGGGGCCCTCACCCTCT	0.622000													5	16					0	0	0.001168	0	0
CLDN4	1364	broad.mit.edu	37	7	73245707	73245707	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:73245707C>T	ENST00000435050.1	+	2	2856	c.176C>T	c.(175-177)aCc>aTc	p.T59I	CLDN4_ENST00000340958.2_Missense_Mutation_p.T59I|CLDN4_ENST00000431918.1_Missense_Mutation_p.T59I			O14493	CLD4_HUMAN	claudin 4	59					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	p.T59I(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GTGCAGAGCACCGGCCAGATG	0.642000													10	47					0	0	0.000978	0	0
OR2M5	127059	broad.mit.edu	37	1	248308490	248308490	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:248308490T>C	ENST00000366476.1	+	1	41	c.41T>C	c.(40-42)cTc>cCc	p.L14P		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L14P(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GACTTCATCCTCCTGGGAATC	0.438000													9	449					0	0	0.008291	0	0
APBA1	320	broad.mit.edu	37	9	72130971	72130971	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:72130971T>C	ENST00000265381.4	-	2	1378	c.1156A>G	c.(1156-1158)Agc>Ggc	p.S386G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	386	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.S386G(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTGGTGGGGCTAATGTCCTGG	0.622000													3	136					0	0	0.000248	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99969246	99969246	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr10:99969246A>G	ENST00000298999.3	+	5	1678	c.1375A>G	c.(1375-1377)Aca>Gca	p.T459A	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.T459A|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like									p.T459A(1)									TACAGAGTCAACAGGAAAGTT	0.378000													8	70					0	0	0.004482	0	0
CEBPD	1052	broad.mit.edu	37	8	48650524	48650524	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:48650524G>A	ENST00000408965.3	-	1	1124	c.159C>T	c.(157-159)taC>taT	p.Y53Y		NM_005195.3	NP_005186.2	P49716	CEBPD_HUMAN	CCAAT/enhancer binding protein (C/EBP), delta	53					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y53Y(1)		lung(1)	1		all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914)				TCTCGTCGTCGTACATGGCGG	0.726000													4	61					0	0	0.000602	0	0
DFNB59	494513	broad.mit.edu	37	2	179320856	179320856	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:179320856G>T	ENST00000409117.3	+	4	883	c.527G>T	c.(526-528)gGa>gTa	p.G176V	DFNB59_ENST00000375129.4_Missense_Mutation_p.G176V|DFNB59_ENST00000605419.1_3'UTR	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	176					sensory perception of sound			p.G176V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GTGCATGCTGGAATTCGAGGG	0.453000													12	26					1.08611e-07	1.57355e-07	0.000978	1	0
N4BP2	55728	broad.mit.edu	37	4	40104287	40104287	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr4:40104287C>T	ENST00000261435.6	+	4	1238	c.822C>T	c.(820-822)tgC>tgT	p.C274C		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	274						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.C274C(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AATCTGAGTGCGTTGAGGCTC	0.433000													19	92					0	0	0.007413	0	0
TTC30A	92104	broad.mit.edu	37	2	178483345	178483345	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:178483345C>T	ENST00000355689.4	-	1	349	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	29					cell projection organization	cilium	binding	p.E29K(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TGCACCGCCTCGGCGTAGCGG	0.677000													5	21					0	0	0.000602	0	0
ASB17	127247	broad.mit.edu	37	1	76387904	76387904	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:76387904A>G	ENST00000284142.6	-	2	681	c.542T>C	c.(541-543)aTt>aCt	p.I181T		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	181					intracellular signal transduction			p.I181T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TGTTAAGACAATGTTGATAGG	0.358000													15	48					0	0	0.002450	0	0
MSH6	2956	broad.mit.edu	37	2	48033436	48033436	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:48033436C>G	ENST00000234420.4	+	8	3892	c.3740C>G	c.(3739-3741)aCt>aGt	p.T1247S	MSH6_ENST00000540021.1_Missense_Mutation_p.T1117S|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.T945S	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1247					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.T1247S(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTATTTTCAACTCACTACCAT	0.353000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	84					0	0	0.003080	0	0
TWIST1	7291	broad.mit.edu	37	7	19156565	19156565	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:19156565G>A	ENST00000242261.5	-	1	730	c.380C>T	c.(379-381)gCg>gTg	p.A127V		NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	127	Helix-loop-helix motif.				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.A127V(1)		lung(2)|upper_aerodigestive_tract(1)	3						CGCGGCGAACGCCTCGTTCAG	0.657000													4	25					0	0	0.000602	0	0
KLK2	3817	broad.mit.edu	37	19	51379887	51379887	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:51379887G>T	ENST00000325321.3	+	3	591	c.366G>T	c.(364-366)atG>atT	p.M122I	KLK2_ENST00000391810.2_Missense_Mutation_p.M20I|KLK2_ENST00000358049.4_Missense_Mutation_p.M122I			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	122	Peptidase S1.				proteolysis		serine-type endopeptidase activity	p.M122I(2)	KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		ATGACCTCATGCTGCTCCGCC	0.587000			T	ETV4	prostate								24	34					1.64293e-13	2.71564e-13	0.003330	1	0
TRPM3	80036	broad.mit.edu	37	9	73399097	73399097	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:73399097G>C	ENST00000377110.2	-	7	1315	c.1072C>G	c.(1072-1074)Cca>Gca	p.P358A	TRPM3_ENST00000396285.1_Missense_Mutation_p.P205A|TRPM3_ENST00000377105.1_Missense_Mutation_p.P205A|TRPM3_ENST00000408909.2_Missense_Mutation_p.P205A|TRPM3_ENST00000396280.5_Missense_Mutation_p.P205A|TRPM3_ENST00000396292.4_Missense_Mutation_p.P230A|TRPM3_ENST00000377106.1_Missense_Mutation_p.P230A|TRPM3_ENST00000396283.1_Missense_Mutation_p.P230A|TRPM3_ENST00000360823.2_Missense_Mutation_p.P230A|TRPM3_ENST00000357533.2_Missense_Mutation_p.P360A|TRPM3_ENST00000377101.1_Missense_Mutation_p.P205A|TRPM3_ENST00000377111.2_Missense_Mutation_p.P358A|TRPM3_ENST00000423814.3_Missense_Mutation_p.P385A|TRPM3_ENST00000358082.3_Missense_Mutation_p.P230A|TRPM3_ENST00000361823.5_Missense_Mutation_p.P205A	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	383						integral to membrane	calcium channel activity	p.P230A(1)|p.P358A(1)|p.P360A(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACAACCACTGGCACGGGAGGG	0.542000													20	74					0	0	0.008871	0	0
ROBO3	64221	broad.mit.edu	37	11	124740965	124740965	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:124740965C>A	ENST00000397801.1	+	7	1281	c.1089C>A	c.(1087-1089)agC>agA	p.S363R	ROBO3_ENST00000538940.1_Missense_Mutation_p.S341R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	363	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity	p.S363R(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTGGAGAGAGCGTGGCTTTCC	0.602000													22	46					1.22574e-08	1.84821e-08	0.002299	1	0
LMBRD1	55788	broad.mit.edu	37	6	70490434	70490434	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:70490434C>G	ENST00000370577.3	-	3	488	c.259G>C	c.(259-261)Gct>Cct	p.A87P	LMBRD1_ENST00000370570.1_Missense_Mutation_p.A14P	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	87					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	p.A87S(1)|p.A87P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CTGACATTAGCATTAGCCCAG	0.338000													38	32					0	0	0.008740	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661419	40661419	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr22:40661419C>T	ENST00000454349.2	+	5	1396	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Silent_p.P395P	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	395					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						AGGGAATGCCCTTTGGAATGG	0.478000													12	38					0	0	0.000978	0	0
OLFML1	283298	broad.mit.edu	37	11	7530834	7530834	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:7530834C>A	ENST00000329293.3	+	3	1018	c.624C>A	c.(622-624)atC>atA	p.I208I	OLFML1_ENST00000530135.1_Silent_p.I208I|CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	208	Olfactomedin-like.					extracellular region		p.I208I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGAAGCAAATCCTAACACTTT	0.403000													24	36					3.7963e-18	6.78819e-18	0.003330	1	0
GBAS	2631	broad.mit.edu	37	7	56049250	56049250	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:56049250G>T	ENST00000322090.3	+	4	392	c.363G>T	c.(361-363)caG>caT	p.Q121H	GBAS_ENST00000446778.1_Missense_Mutation_p.R106M	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	121						integral to plasma membrane|membrane fraction|mitochondrion	protein binding	p.Q121H(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGGCGAGCAGGACCAAGCTG	0.398000													43	98					8.69298e-16	1.5095e-15	0.006999	1	0
TECRL	253017	broad.mit.edu	37	4	65147240	65147240	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr4:65147240G>T	ENST00000381210.3	-	10	980	c.870C>A	c.(868-870)ccC>ccA	p.P290P	TECRL_ENST00000507440.1_Silent_p.P290P	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	290					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.P290P(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCCATGTGAAGGGGTTATAAT	0.328000													18	46					1.15919e-05	1.5488e-05	0.008871	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060507	35060507	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr20:35060507C>T	ENST00000373913.3	+	3	867	c.387C>T	c.(385-387)gcC>gcT	p.A129A	DLGAP4_ENST00000373907.2_Silent_p.A129A|DLGAP4_ENST00000401952.2_Silent_p.A129A|DLGAP4_ENST00000339266.5_Silent_p.A129A			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	129					cell-cell signaling	membrane	protein binding	p.A129A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GTGGCGAGGCCAAGGCCCGTG	0.642000													25	232					0	0	0.003330	0	0
ZNF418	147686	broad.mit.edu	37	19	58439157	58439157	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:58439157T>A	ENST00000396147.1	-	4	683	c.392A>T	c.(391-393)tAc>tTc	p.Y131F	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.Y152F|ZNF418_ENST00000599852.1_Missense_Mutation_p.Y46F|ZNF418_ENST00000595830.1_Missense_Mutation_p.Y131F	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y131F(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CTCTCCAAGGTACTGATTCTG	0.453000													17	163					0	0	0.004990	0	0
PCSK1	5122	broad.mit.edu	37	5	95764992	95764992	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:95764992G>C	ENST00000311106.3	-	2	447	c.210C>G	c.(208-210)ttC>ttG	p.F70L	PCSK1_ENST00000508626.1_Missense_Mutation_p.F23L|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	70					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.F70L(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTTATGTTTGAATAAGTAGT	0.328000													5	103					0	0	0.000602	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19687463	19687463	+	Splice_Site	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr21:19687463C>A	ENST00000284885.3	-	17	2065	c.2032_splice	c.e17+1	p.V678_splice		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	678	LDL-receptor class A 2.|SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.V678L(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TAAGACATACCACAATCTGCT	0.398000													10	83					7.48243e-07	1.0432e-06	0.006214	1	0
ZNF442	79973	broad.mit.edu	37	19	12461717	12461717	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:12461717C>A	ENST00000242804.4	-	6	1264	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	ZNF442_ENST00000438182.1_Nonsense_Mutation_p.E159*	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E228*(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TGAGTTCTTTCATGCATACGA	0.393000													37	117					2.20474e-14	3.72097e-14	0.003755	1	0
ALG11	440138	broad.mit.edu	37	13	52598305	52598305	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr13:52598305T>G	ENST00000521508.1	+	3	444	c.439T>G	c.(439-441)Ttc>Gtc	p.F147V	ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase									p.F147V(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GTATCCTCACTTCACACTGCT	0.403000													7	100					0	0	0.003080	0	0
RGS4	5999	broad.mit.edu	37	1	163039313	163039313	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:163039313G>C	ENST00000421743.2	+	2	490	c.330G>C	c.(328-330)ttG>ttC	p.L110F	RGS4_ENST00000367908.4_Missense_Mutation_p.L13F|RGS4_ENST00000527809.1_Intron|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_Missense_Mutation_p.L13F|RGS4_ENST00000531057.1_Missense_Mutation_p.L13F	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	13	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.L110F(1)|p.L13F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CTTCTTGCTTGAGGAGGTAAG	0.428000											OREG0013952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	62					0	0	0.000602	0	0
HKR1	284459	broad.mit.edu	37	19	37854368	37854368	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:37854368G>T	ENST00000591471.1	+	9	2493	c.852G>T	c.(850-852)gaG>gaT	p.E284D	HKR1_ENST00000589392.1_Missense_Mutation_p.E539D|HKR1_ENST00000324411.4_Missense_Mutation_p.E557D|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Missense_Mutation_p.E496D|HKR1_ENST00000544914.1_Missense_Mutation_p.E284D|HKR1_ENST00000392153.3_Missense_Mutation_p.E538D			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	557					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E557D(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGCAGGGAGTGTGGCAGAA	0.502000													21	34					1.50039e-11	2.38969e-11	0.001882	1	0
MDGA2	161357	broad.mit.edu	37	14	47351411	47351411	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:47351411C>A	ENST00000426342.1	-	11	2104	c.1358G>T	c.(1357-1359)cGc>cTc	p.R453L	MDGA2_ENST00000357362.3_Missense_Mutation_p.R453L|MDGA2_ENST00000439988.2_Missense_Mutation_p.R682L|MDGA2_ENST00000399232.2_Missense_Mutation_p.R751L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	682	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.R453L(2)|p.R751L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTCCCACCAGCGCTGCTGTCC	0.323000													11	49					0.000151284	0.00019614	0.001855	1	0
ABCC9	10060	broad.mit.edu	37	12	22068791	22068791	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:22068791C>G	ENST00000261200.4	-	5	626	c.627G>C	c.(625-627)caG>caC	p.Q209H	ABCC9_ENST00000345162.2_Missense_Mutation_p.Q209H|ABCC9_ENST00000261201.4_Missense_Mutation_p.Q209H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	209					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.Q209H(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTCCCAGATCCTGGAGGTCTT	0.363000													28	57					0	0	0.007291	0	0
DCDC1	341019	broad.mit.edu	37	11	31329334	31329334	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:31329334C>G	ENST00000597505.1	-	2	285	c.286G>C	c.(286-288)Gat>Cat	p.D96H	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000452803.1_Missense_Mutation_p.D96H			P59894	DCDC1_HUMAN	doublecortin domain containing 1	96					intracellular signal transduction			p.D96H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTGGAGCAATCTTGAAGTCCT	0.388000													5	279					0	0	0.001984	0	0
CDH12	1010	broad.mit.edu	37	5	21975358	21975358	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:21975358G>A	ENST00000382254.1	-	6	1454	c.368C>T	c.(367-369)cCt>cTt	p.P123L	CDH12_ENST00000504376.2_Missense_Mutation_p.P123L|CDH12_ENST00000522262.1_Missense_Mutation_p.P123L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	123	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P123L(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGTGTAGAAAGGTTTCTCTTC	0.443000										HNSCC(59;0.17)			4	175					0	0	0.000248	0	0
PCSK5	5125	broad.mit.edu	37	9	78686767	78686767	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:78686767G>C	ENST00000545128.1	+	7	1385	c.847G>C	c.(847-849)Gga>Cga	p.G283R	PCSK5_ENST00000376767.3_Missense_Mutation_p.G283R|PCSK5_ENST00000376752.4_Missense_Mutation_p.G283R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	283	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.G283R(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GACTGTGGACGGACCAGCCCC	0.527000													47	199					0	0	0.003610	0	0
PTPRK	5796	broad.mit.edu	37	6	128294253	128294253	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:128294253C>T	ENST00000368227.3	-	30	4600	c.4234G>A	c.(4234-4236)Gaa>Aaa	p.E1412K	PTPRK_ENST00000368226.4_Missense_Mutation_p.E1395K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E1417K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E1401K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E1427K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E1413K|PTPRK_ENST00000368215.3_Missense_Mutation_p.E1394K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1394	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.E1395K(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTCACCATTTCAACAACGATG	0.468000													30	167					0	0	0.006320	0	0
ZNF776	284309	broad.mit.edu	37	19	58262174	58262174	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:58262174G>A	ENST00000317178.5	+	2	318	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	ZNF776_ENST00000431353.1_Missense_Mutation_p.V19M	NM_173632.3	NP_775903.3			zinc finger protein 776									p.V19M(1)		cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		CTTTGAAGATGTGGCTGTGAA	0.488000													10	139					0	0	0.001368	0	0
PRPF4B	8899	broad.mit.edu	37	6	4032758	4032758	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:4032758G>T	ENST00000337659.6	+	2	1107	c.1007G>T	c.(1006-1008)gGg>gTg	p.G336V	PRPF4B_ENST00000538861.1_Missense_Mutation_p.G322V	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	336	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.G336V(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GCTTCATCTGGGAAAGAAAAT	0.408000													69	59					1.43987e-31	2.89781e-31	0.003610	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766034	77766034	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:77766034G>T	ENST00000521891.2	+	10	7325	c.6877G>T	c.(6877-6879)Gat>Tat	p.D2293Y	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2248Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2248Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2267Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2248						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D2277Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAAACAAAAGATAATGAAAA	0.408000										HNSCC(33;0.089)			31	54					8.58068e-18	1.52863e-17	0.007291	1	0
GNPDA1	10007	broad.mit.edu	37	5	141387389	141387389	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:141387389C>A	ENST00000508177.1	-	2	959	c.201G>T	c.(199-201)aaG>aaT	p.K67N	GNPDA1_ENST00000311337.6_Missense_Mutation_p.K67N|GNPDA1_ENST00000458112.2_Intron|GNPDA1_ENST00000503794.1_Missense_Mutation_p.K67N|GNPDA1_ENST00000500692.2_Missense_Mutation_p.K67N|GNPDA1_ENST00000542860.1_Missense_Mutation_p.K67N|GNPDA1_ENST00000513454.1_Missense_Mutation_p.K67N			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	67					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	p.K67N(1)		central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGAAGGTCTTCACATATT	0.478000													64	202					2.03652e-46	4.20415e-46	0.003610	1	0
PLCL1	5334	broad.mit.edu	37	2	198950297	198950297	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:198950297C>G	ENST00000428675.1	+	2	2454	c.2056C>G	c.(2056-2058)Ctt>Gtt	p.L686V	PLCL1_ENST00000437704.2_Missense_Mutation_p.L588V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	686	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.L588V(1)|p.L686V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGGCTGGTTTCTTCAAAACGG	0.453000													5	140					0	0	0.000602	0	0
MYH7B	57644	broad.mit.edu	37	20	33578063	33578063	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr20:33578063G>C	ENST00000262873.7	+	20	2145	c.2053G>C	c.(2053-2055)Gag>Cag	p.E685Q		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	643	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.E685Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGGGTGAAAGAGAAGCGTAA	0.597000													5	252					0	0	0.001984	0	0
CHFR	55743	broad.mit.edu	37	12	133438086	133438086	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:133438086C>A	ENST00000266880.7	-	7	817	c.754G>T	c.(754-756)Gat>Tat	p.D252Y	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.D252Y|CHFR_ENST00000443047.2_Missense_Mutation_p.D160Y|CHFR_ENST00000450056.2_Missense_Mutation_p.D240Y|CHFR_ENST00000315585.7_Missense_Mutation_p.D211Y			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	252					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.D211Y(1)|p.D252Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGCTCCAAATCCTCCTGATCC	0.567000													41	105					9.39024e-22	1.7439e-21	0.002222	1	0
ESRRB	2103	broad.mit.edu	37	14	76965136	76965136	+	Missense_Mutation	SNP	G	G	A	rs141650196	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:76965136G>A	ENST00000261532.7	+	8	1436	c.1364G>A	c.(1363-1365)cGa>cAa	p.R455Q	ESRRB_ENST00000509242.1_Intron|ESRRB_ENST00000380887.2_Intron|RP11-187O7.3_ENST00000554926.1_lincRNA			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R455Q(1)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCCCTCCACCGAGCCACCAAG	0.627000													8	32					0	0	0.004482	0	0
MYO16	23026	broad.mit.edu	37	13	109699269	109699269	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr13:109699269G>A	ENST00000356711.2	+	24	2862	c.2736G>A	c.(2734-2736)atG>atA	p.M912I	MYO16_ENST00000357550.2_Missense_Mutation_p.M912I|MYO16_ENST00000251041.5_Missense_Mutation_p.M912I|MYO16_ENST00000457511.2_Missense_Mutation_p.M424I	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	912	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.M912I(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCTAGGTAATGTATGATGTTG	0.318000													13	113					0	0	0.002450	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35554835	35554835	+	Silent	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:35554835T>G	ENST00000261475.5	-	13	1676	c.1323A>C	c.(1321-1323)gcA>gcC	p.A441A		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	441						centrosome|nucleus	calcium ion binding	p.A441A(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CACTGTCATTTGCAACAAGAG	0.383000													19	73					0	0	0.001882	0	0
EGFLAM	133584	broad.mit.edu	37	5	38458490	38458490	+	Missense_Mutation	SNP	C	C	A	rs139285515	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:38458490C>A	ENST00000322350.5	+	20	3111	c.2765C>A	c.(2764-2766)gCc>gAc	p.A922D	EGFLAM_ENST00000397210.3_Missense_Mutation_p.A65D|EGFLAM_ENST00000336740.6_Missense_Mutation_p.A688D|EGFLAM_ENST00000506135.1_Missense_Mutation_p.A65D|EGFLAM_ENST00000354891.3_Missense_Mutation_p.A930D|EGFLAM_ENST00000514476.1_Missense_Mutation_p.A65D|EGFLAM_ENST00000397202.2_Missense_Mutation_p.A288D	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	930	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse		p.A930D(1)|p.A922D(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CGAGTTAAGGCCGTTAGGTGA	0.562000													18	66					1.15919e-05	1.5488e-05	0.008871	1	0
NBAS	51594	broad.mit.edu	37	2	15496520	15496520	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:15496520G>T	ENST00000281513.5	-	33	3863	c.3838C>A	c.(3838-3840)Cgg>Agg	p.R1280R	NBAS_ENST00000441750.1_Silent_p.R1160R	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1280								p.R1280R(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACCTGTCCCCGCCTTTCTTCT	0.453000													18	81					2.94398e-08	4.39769e-08	0.007413	1	0
MUC16	94025	broad.mit.edu	37	19	9048993	9048993	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:9048993G>C	ENST00000397910.4	-	5	32841	c.32638C>G	c.(32638-32640)Cct>Gct	p.P10880A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10882	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P6513A(1)|p.P10880A(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						GTGACCAAAGGGGTCACTACT	0.493000													27	114					0	0	0.004656	0	0
LPHN3	23284	broad.mit.edu	37	4	62778453	62778453	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr4:62778453G>A	ENST00000512091.1	+	12	2633	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	LPHN3_ENST00000509896.1_Missense_Mutation_p.R697H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R629H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R697H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R629H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R629H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R697H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R629H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R629H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R697H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R697H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R629H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R697H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R629H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R697H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	623					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R629H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAAAGAGAGCGCTCTTGCAGA	0.363000													23	92					0	0	0.002299	0	0
PKP1	5317	broad.mit.edu	37	1	201293709	201293709	+	Splice_Site	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:201293709G>T	ENST00000263946.3	+	11	2148	c.1897_splice	c.e11+1	p.G633_splice	PKP1_ENST00000352845.3_Splice_Site_p.G633_splice|PKP1_ENST00000367324.3_Splice_Site_p.G612_splice	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	633					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	p.G633W(1)|p.G612W(1)		NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAGAGTGATGGGTAAGGTCCC	0.572000													11	21					4.68919e-08	6.98297e-08	0.008291	1	0
UGGT2	55757	broad.mit.edu	37	13	96601613	96601613	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr13:96601613G>A	ENST00000376747.3	-	13	1501	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	477					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	p.S477S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGCGCCTTATGGAAGGTACAC	0.318000													21	35					0	0	0.008871	0	0
TRPV6	55503	broad.mit.edu	37	7	142575519	142575519	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:142575519C>A	ENST00000359396.3	-	3	479	c.234G>T	c.(232-234)atG>atT	p.M78I	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	78					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.M78I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGTTTCCCCCATGGCTCCTG	0.572000													32	98					1.61788e-16	2.84015e-16	0.002445	1	0
OSMR	9180	broad.mit.edu	37	5	38883971	38883971	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:38883971A>T	ENST00000274276.3	+	5	863	c.461A>T	c.(460-462)aAa>aTa	p.K154I	OSMR_ENST00000502536.1_Missense_Mutation_p.K154I	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	154					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.K154I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GTTTTCCCTAAAGATAAGCTG	0.348000													33	120					0	0	0.004289	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5200305	5200305	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:5200305G>A	ENST00000274181.7	+	9	1512	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M458I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	458	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.M458I(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCAACATCATGTCCCCTACAT	0.473000													9	50					0	0	0.004482	0	0
MYLK	4638	broad.mit.edu	37	3	123458825	123458825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:123458825G>A	ENST00000360772.3	-	7	775	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	MYLK_ENST00000475616.1_Nonsense_Mutation_p.Q133*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.Q133*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.Q133*|MYLK_ENST00000360304.3_Nonsense_Mutation_p.Q133*			Q15746	MYLK_HUMAN	myosin light chain kinase	133			Q -> H.		aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.Q133*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACAACAGGCTGACCAAGCTGC	0.463000													6	241					0	0	0.001168	0	0
DMD	1756	broad.mit.edu	37	X	32663166	32663166	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chrX:32663166A>C	ENST00000357033.4	-	10	1270	c.1064T>G	c.(1063-1065)cTt>cGt	p.L355R	DMD_ENST00000288447.4_Missense_Mutation_p.L347R|DMD_ENST00000378677.2_Missense_Mutation_p.L351R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	355					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.L355R(1)|p.L350R(1)|p.L351R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCAGAAAGAAGCCACGATAA	0.408000													13	95					0	0	0.001368	0	0
LPHN2	23266	broad.mit.edu	37	1	82456564	82456564	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:82456564A>T	ENST00000370728.1	+	25	4760	c.4115A>T	c.(4114-4116)tAt>tTt	p.Y1372F	LPHN2_ENST00000370725.1_Missense_Mutation_p.Y1387F|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y1316F|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y1344F|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y1329F|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y1374F|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y1316F|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y1374F|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y1329F|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y1344F|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y1387F|LPHN2_ENST00000370721.1_Missense_Mutation_p.Y1297F			O95490	LPHN2_HUMAN	latrophilin 2	1372					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.Y1387F(1)|p.Y1316F(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTCTCTTTATACAAGCATG	0.517000													7	91					0	0	0.001984	0	0
ORAI1	84876	broad.mit.edu	37	12	122079355	122079355	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:122079355G>A	ENST00000330079.7	+	2	911	c.718G>A	c.(718-720)Gcc>Acc	p.A240T		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	238					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.A240T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		AGCTGCCATCGCCTCGACCAC	0.642000													9	62					0	0	0.004482	0	0
OBSCN	84033	broad.mit.edu	37	1	228557766	228557766	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:228557766C>T	ENST00000570156.2	+	102	23036	c.22962C>T	c.(22960-22962)ttC>ttT	p.F7654F	OBSCN_ENST00000422127.1_Silent_p.F6697F|OBSCN_ENST00000366707.4_Silent_p.F4331F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6697					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.F7409F(1)|p.F7279F(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAAAGACTTCATCAAGGCTA	0.682000													5	77					0	0	0.001168	0	0
NFE2L1	4779	broad.mit.edu	37	17	46128597	46128597	+	Silent	SNP	C	C	T	rs141933946	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr17:46128597C>T	ENST00000362042.3	+	2	733	c.117C>T	c.(115-117)ctC>ctT	p.L39L	NFE2L1_ENST00000361665.3_Silent_p.L39L|NFE2L1_ENST00000357480.5_Silent_p.L39L|NFE2L1_ENST00000585291.1_Silent_p.L39L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	39					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.L39L(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCCCCCACTCCGGGAGATCA	0.522000													38	109					0	0	0.006230	0	0
PRRC2C	23215	broad.mit.edu	37	1	171504670	171504670	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:171504670G>T	ENST00000367742.3	+	13	2219	c.1977G>T	c.(1975-1977)ccG>ccT	p.P659P	PRRC2C_ENST00000392078.3_Silent_p.P659P|PRRC2C_ENST00000426496.2_Silent_p.P657P|PRRC2C_ENST00000338920.4_Silent_p.P657P			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	657							protein C-terminus binding	p.P659P(2)									AACCTCGGCCGGCTGTATTAT	0.443000													61	189					2.81305e-35	5.75777e-35	0.003610	1	0
CEP192	55125	broad.mit.edu	37	18	13087217	13087217	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr18:13087217G>C	ENST00000506447.1	+	31	5898	c.5818G>C	c.(5818-5820)Gat>Cat	p.D1940H	CEP192_ENST00000430049.2_Missense_Mutation_p.D1465H|CEP192_ENST00000325971.8_Missense_Mutation_p.D1344H|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1535								p.D1940H(1)|p.D1344H(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGTTTTGCTGGATCCTAAAGT	0.343000													3	72					0	0	0.004672	0	0
ENPP7	339221	broad.mit.edu	37	17	77709206	77709206	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr17:77709206G>A	ENST00000328313.5	+	3	985	c.764G>A	c.(763-765)cGg>cAg	p.R255Q		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	255					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.R255Q(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTGGACAAACGGGCTGGCGAC	0.597000													24	57					0	0	0.008361	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58183597	58183597	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:58183597C>A	ENST00000483681.1	-	8	1236	c.655G>T	c.(655-657)Gac>Tac	p.D219Y	DNASE1L3_ENST00000394549.2_Missense_Mutation_p.D219Y|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D189Y|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D219Y			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	219					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	p.D219Y(1)		breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCCTCTTGGTCCCCGATCAGC	0.572000													23	51					6.44725e-10	1.01014e-09	0.002299	1	0
PASD1	139135	broad.mit.edu	37	X	150828215	150828215	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chrX:150828215T>G	ENST00000370357.4	+	10	993	c.748T>G	c.(748-750)Tat>Gat	p.Y250D		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	250						nucleus	signal transducer activity	p.Y250D(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGAGCAGTATGGACCACA	0.393000													5	64					0	0	0.000602	0	0
TRIM10	10107	broad.mit.edu	37	6	30121946	30121946	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:30121946C>A	ENST00000449742.2	-	7	1321	c.1246G>T	c.(1246-1248)Ggc>Tgc	p.G416C	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	416	B30.2/SPRY.					cytoplasm	zinc ion binding	p.G12C(1)|p.G416C(1)		ovary(1)	1						GGGAAGGAGCCCAGAGCCGAG	0.662000													22	19					1.33986e-20	2.47875e-20	0.004656	1	0
NUP188	23511	broad.mit.edu	37	9	131743636	131743636	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:131743636C>T	ENST00000372577.2	+	15	1504	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	495					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.R495W(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AACTCTTTGGCGGAGACAAAC	0.403000													5	166					0	0	0.000602	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766282	77766282	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:77766282C>A	ENST00000521891.2	+	10	7573	c.7125C>A	c.(7123-7125)aaC>aaA	p.N2375K	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N2330K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N2330K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N2349K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2330	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N2359K(1)|p.N2359N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCTAAAAACGCTGCTGCCC	0.507000										HNSCC(33;0.089)			85	196					1.8615e-32	3.7621e-32	0.003610	1	0
PUS7	54517	broad.mit.edu	37	7	105108805	105108805	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:105108805C>T	ENST00000356362.2	-	12	1718	c.1504G>A	c.(1504-1506)Ggg>Agg	p.G502R	PUS7_ENST00000469408.1_Missense_Mutation_p.G502R	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	502	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.G502R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ACGAGGTCCCCTGGAACAGGT	0.408000													52	183					0	0	0.003610	0	0
DGKK	139189	broad.mit.edu	37	X	50112015	50112015	+	RNA	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chrX:50112015T>C	ENST00000376025.2	-	0	3798							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTGCCATAAATTGCCTTCAGA	0.433000													3	31					0	0	0.000248	0	0
KCNC2	3747	broad.mit.edu	37	12	75444758	75444758	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:75444758C>A	ENST00000549446.1	-	3	1707	c.1027G>T	c.(1027-1029)Gtg>Ttg	p.V343L	KCNC2_ENST00000548513.1_Missense_Mutation_p.V343L|KCNC2_ENST00000341669.3_Missense_Mutation_p.V343L|KCNC2_ENST00000393288.2_Missense_Mutation_p.V343L|KCNC2_ENST00000550433.1_Missense_Mutation_p.V343L|KCNC2_ENST00000350228.2_Missense_Mutation_p.V343L|KCNC2_ENST00000540018.1_Missense_Mutation_p.V343L|KCNC2_ENST00000298972.1_Missense_Mutation_p.V343L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	343					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V343L(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AAGCCAAGCACATCTTTAGCA	0.458000													16	53					1.01871e-10	1.60656e-10	0.008871	1	0
SAP130	79595	broad.mit.edu	37	2	128712558	128712558	+	Splice_Site	SNP	A	A	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:128712558A>C	ENST00000357702.5	-	16	2632		c.e16+1		SAP130_ENST00000259234.6_Splice_Site|SAP130_ENST00000259235.3_Splice_Site	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa						histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.?(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGACGGACTTACCAGAAACTG	0.488000													12	72					0	0	0.002450	0	0
ADAM28	10863	broad.mit.edu	37	8	24184143	24184143	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:24184143G>A	ENST00000265769.4	+	10	1077	c.967G>A	c.(967-969)Gtt>Att	p.V323I	RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.V70I|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.V90I|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.V323I	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	323	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V323I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTTGGCGTTGTTCAGGTCTG	0.343000													101	95					0	0	0.003610	0	0
NXF1	10482	broad.mit.edu	37	11	62568674	62568674	+	Splice_Site	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:62568674C>A	ENST00000531709.2	-	9	912		c.e9-1		NXF1_ENST00000531131.1_Splice_Site|NXF1_ENST00000294172.2_Splice_Site|NXF1_ENST00000532297.1_Splice_Site|NXF1_ENST00000439713.2_Splice_Site	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1						gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGACAATAGCTGTGAGGAGA	0.493000													13	44					0.000151284	0.00019614	0.001855	1	0
FBN2	2201	broad.mit.edu	37	5	127713551	127713551	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:127713551C>G	ENST00000508053.1	-	19	2717	c.1743G>C	c.(1741-1743)caG>caC	p.Q581H	FBN2_ENST00000262464.4_Missense_Mutation_p.Q581H|FBN2_ENST00000508989.1_Missense_Mutation_p.Q548H			P35556	FBN2_HUMAN	fibrillin 2	581	EGF-like 8; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.Q581H(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAACCCCATTCTGGATGCACT	0.358000													15	203					0	0	0.003163	0	0
ASTN1	460	broad.mit.edu	37	1	176845701	176845701	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:176845701G>A	ENST00000367654.2	-	21	3472	c.3459C>T	c.(3457-3459)tgC>tgT	p.C1153C	ASTN1_ENST00000367657.3_Silent_p.C1145C|ASTN1_ENST00000361833.2_Silent_p.C1145C|ASTN1_ENST00000424564.2_Silent_p.C1145C			O14525	ASTN1_HUMAN	astrotactin 1	1153					cell migration|neuron cell-cell adhesion	integral to membrane		p.C1145C(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCACCACGGGGCATGGGGTCT	0.577000													25	64					0	0	0.005443	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362429	105362429	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr10:105362429C>G	ENST00000369774.4	-	15	2822	c.2546G>C	c.(2545-2547)aGc>aCc	p.S849T	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S716T|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S684T|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S821T|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	849	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	p.S821T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTGGTAGGCGCTGCATGTCAT	0.612000													11	65					0	0	0.000978	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768813	51768813	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:51768813C>A	ENST00000316401.7	+	3	595	c.214C>A	c.(214-216)Cta>Ata	p.L72I	SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1									p.L72I(1)									CACCATCAGCCTAACTGAAGA	0.557000													13	70					5.50884e-06	7.40154e-06	0.001368	1	0
WNK1	65125	broad.mit.edu	37	12	977030	977030	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:977030A>G	ENST00000574564.1	+	1	71	c.35A>G	c.(34-36)cAg>cGg	p.Q12R	WNK1_ENST00000530271.2_Splice_Site|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000537687.1_Splice_Site|WNK1_ENST00000535572.1_Intron			Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2162					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATGTTGATACAGCCTCAGTCC	0.413000													14	30					0	0	0.002450	0	0
CXorf22	170063	broad.mit.edu	37	X	35974306	35974306	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chrX:35974306G>T	ENST00000297866.5	+	8	1469	c.1403G>T	c.(1402-1404)gGt>gTt	p.G468V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	468								p.G468V(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACTGGAGGGGGTATGGTGGTA	0.358000													15	8					6.31663e-08	9.31993e-08	0.003163	1	0
SCRIB	23513	broad.mit.edu	37	8	144876106	144876106	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:144876106C>T	ENST00000356994.2	-	28	3879	c.3873G>A	c.(3871-3873)aaG>aaA	p.K1291K	SCRIB_ENST00000377533.3_Silent_p.K1210K|SCRIB_ENST00000546337.1_5'UTR|SCRIB_ENST00000320476.3_Silent_p.K1291K	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1291					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	p.K1291K(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ATTCAGCCATCTTCCCTCCAG	0.662000													7	80					0	0	0.003080	0	0
LRP1B	53353	broad.mit.edu	37	2	142238044	142238044	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:142238044G>T	ENST00000389484.3	-	3	1235	c.264C>A	c.(262-264)aaC>aaA	p.N88K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	88	LDL-receptor class A 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.N88K(1)		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)		GAACACATTTGTTGGTACCAA	0.433000										TSP Lung(27;0.18)			5	56					1.23904e-05	1.64181e-05	0.000602	1	0
MIB1	57534	broad.mit.edu	37	18	19345792	19345792	+	Nonsense_Mutation	SNP	C	C	T	rs151095403		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr18:19345792C>T	ENST00000261537.6	+	2	553	c.289C>T	c.(289-291)Cga>Tga	p.R97*	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	97					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	p.R97*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CATTGGCATTCGATGGAAGTG	0.393000													12	61					0	0	0.001368	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735712	140735712	+	Nonsense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:140735712T>A	ENST00000571252.1	+	1	945	c.945T>A	c.(943-945)taT>taA	p.Y315*	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGATTCTATGACATAGATG	0.438000													7	19					0	0	0.001984	0	0
TRAF3	7187	broad.mit.edu	37	14	103371649	103371649	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:103371649C>T	ENST00000560371.1	+	11	1452	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V	TRAF3_ENST00000539721.1_Missense_Mutation_p.A329V|TRAF3_ENST00000392745.2_Missense_Mutation_p.A412V|TRAF3_ENST00000347662.4_Missense_Mutation_p.A387V|TRAF3_ENST00000351691.5_Missense_Mutation_p.A387V	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	412					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.A412V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		CTGGAGACCGCCAGCTACAAT	0.612000													22	50					0	0	0.001523	0	0
ZBTB3	79842	broad.mit.edu	37	11	62519947	62519947	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:62519947A>T	ENST00000394807.3	-	2	1465	c.1340T>A	c.(1339-1341)cTg>cAg	p.L447Q		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L447Q(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TGGCTCATGCAGGGATGCGGG	0.552000													21	54					0	0	0.002780	0	0
SORCS2	57537	broad.mit.edu	37	4	7728606	7728606	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr4:7728606G>C	ENST00000507866.2	+	21	2954	c.2845G>C	c.(2845-2847)Gac>Cac	p.D949H	SORCS2_ENST00000329016.9_Missense_Mutation_p.D777H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	949						integral to membrane	neuropeptide receptor activity	p.D799H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGTGCTGCAGGACTCCAGGGT	0.632000													21	34					0	0	0.008871	0	0
KCTD13	253980	broad.mit.edu	37	16	29934554	29934554	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr16:29934554T>G	ENST00000568000.1	-	2	1372	c.371A>C	c.(370-372)tAc>tCc	p.Y124S	KCTD13_ENST00000561540.1_Missense_Mutation_p.Y124S	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	124					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	p.Y124S(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CTGCACCAGGTAGTAGCGTGC	0.607000													9	31					0	0	0.008291	0	0
SH2D5	400745	broad.mit.edu	37	1	21050589	21050589	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:21050589C>T	ENST00000375031.1	-	6	1158	c.534G>A	c.(532-534)tcG>tcA	p.S178S	SH2D5_ENST00000444387.2_Silent_p.S262S|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	178								p.S178S(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTCCCGAGCCGACAGCTGCA	0.667000													6	28					0	0	0.001984	0	0
FCER2	2208	broad.mit.edu	37	19	7754258	7754258	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:7754258G>A	ENST00000346664.5	-	11	999	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	FCER2_ENST00000360067.4_Missense_Mutation_p.R262W|FCER2_ENST00000597921.1_Missense_Mutation_p.R263W	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	263	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	p.R263W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCGGAGCCCCGCATCATCACG	0.687000													5	14					0	0	0.000602	0	0
CELF4	56853	broad.mit.edu	37	18	34850743	34850743	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr18:34850743G>T	ENST00000420428.2	-	8	1482	c.1087C>A	c.(1087-1089)Cac>Aac	p.H363N	CELF4_ENST00000412753.1_Missense_Mutation_p.H362N|CELF4_ENST00000591287.1_Missense_Mutation_p.H362N|CELF4_ENST00000601019.1_Missense_Mutation_p.H361N|CELF4_ENST00000588597.1_Missense_Mutation_p.H352N|CELF4_ENST00000603232.1_Missense_Mutation_p.H362N|CELF4_ENST00000334919.5_Missense_Mutation_p.H353N|CELF4_ENST00000591282.1_Missense_Mutation_p.H363N|CELF4_ENST00000361795.5_Missense_Mutation_p.H361N	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	363					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.H363N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GGGTAGGGGTGGATGCCATTG	0.557000													22	72					1.9806e-07	2.8523e-07	0.002299	1	0
EDN3	1908	broad.mit.edu	37	20	57876513	57876513	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr20:57876513C>T	ENST00000311585.7	+	2	471	c.101C>T	c.(100-102)tCc>tTc	p.S34F	EDN3_ENST00000371028.2_Missense_Mutation_p.S34F|EDN3_ENST00000337938.2_Missense_Mutation_p.S34F|EDN3_ENST00000395654.3_Missense_Mutation_p.S34F|EDN3_ENST00000371025.3_Missense_Mutation_p.S34F	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	34					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.S34F(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CGCGGCGTGTCCCAGGCCCCC	0.657000													78	31					0	0	0.003610	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547132	37547132	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr20:37547132G>T	ENST00000299824.1	+	11	1716	c.1527G>T	c.(1525-1527)acG>acT	p.T509T	PPP1R16B_ENST00000373331.2_Silent_p.T467T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	509					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.T509T(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGGCCAGGACGGGCGAGAGTA	0.622000													22	21					5.26018e-13	8.63531e-13	0.001882	1	0
OR52E2	119678	broad.mit.edu	37	11	5080209	5080209	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:5080209G>C	ENST00000321522.2	-	1	648	c.649C>G	c.(649-651)Ctt>Gtt	p.L217V		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L217V(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACATAAGAAAGGGCAATGACT	0.408000													4	75					0	0	0.000602	0	0
FYCO1	79443	broad.mit.edu	37	3	46014653	46014653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:46014653C>A	ENST00000296137.2	-	6	671	c.466G>T	c.(466-468)Gag>Tag	p.E156*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E156*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	156	RUN.				transport	integral to membrane	metal ion binding|protein binding	p.E156*(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCAGTCAGCTCATAGAGTTGG	0.478000													45	56					3.7052e-28	7.30411e-28	0.003214	1	0
HNRNPUL1	11100	broad.mit.edu	37	19	41782090	41782090	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:41782090G>T	ENST00000392006.3	+	5	846	c.673G>T	c.(673-675)Gcc>Tcc	p.A225S	HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.A125S|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.A125S|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.A225S|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.A125S|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.A136S|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.A182S	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	225	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	p.A225S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTTCAAGGTGGCCCGAGATCG	0.502000													38	95					2.87052e-16	5.00261e-16	0.005524	1	0
SPIDR	23514	broad.mit.edu	37	8	48309124	48309124	+	Silent	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:48309124T>A	ENST00000297423.4	+	6	1098	c.714T>A	c.(712-714)ccT>ccA	p.P238P	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Silent_p.P168P|SPIDR_ENST00000518074.1_Silent_p.P178P	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair									p.P238P(1)									TGCATACACCTCAGAAACCCA	0.373000													11	474					0	0	0.001855	0	0
IDH1	3417	broad.mit.edu	37	2	209104696	209104696	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:209104696C>A	ENST00000415913.1	-	8	1263	c.882G>T	c.(880-882)gtG>gtT	p.V294V	IDH1_ENST00000345146.2_Silent_p.V294V|IDH1_ENST00000446179.1_Silent_p.V294V			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	294					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.V294V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GACAAACCAGCACGCTGGTCA	0.542000			Mis		gliobastoma								25	61					5.61819e-17	9.9351e-17	0.005443	1	0
GIMAP1	170575	broad.mit.edu	37	7	150417162	150417162	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:150417162C>A	ENST00000307194.5	+	3	210	c.70C>A	c.(70-72)Cag>Aag	p.Q24K		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1									p.Q24K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGTCCCGGCAGGAGTCCAC	0.532000													82	219					5.10314e-47	1.05802e-46	0.003610	1	0
STAG3	10734	broad.mit.edu	37	7	99809101	99809101	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:99809101C>A	ENST00000426455.1	+	31	3861	c.3454C>A	c.(3454-3456)Cca>Aca	p.P1152T	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.P1152T|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron|STAG3_ENST00000394018.2_Missense_Mutation_p.P1094T			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1152					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.P1152T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTCTTGGGTCCACAATATTT	0.507000													33	121					9.80977e-26	1.91032e-25	0.004289	1	0
CPA2	1358	broad.mit.edu	37	7	129916550	129916550	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:129916550C>A	ENST00000222481.4	+	7	723	c.668C>A	c.(667-669)cCt>cAt	p.P223H		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	223					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	p.P221H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GTCACAAACCCTGATGGATAC	0.423000													30	93					5.60225e-13	9.16558e-13	0.001786	1	0
CASS4	57091	broad.mit.edu	37	20	55027049	55027049	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr20:55027049C>A	ENST00000371336.3	+	5	1018	c.817C>A	c.(817-819)Ccc>Acc	p.P273T	CASS4_ENST00000360314.3_Missense_Mutation_p.P273T|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	273					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.P273N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCACGCTCTCCCCAGTTCCAG	0.517000													37	176					1.47197e-15	2.5377e-15	0.007835	1	0
ABCA13	154664	broad.mit.edu	37	7	48314884	48314884	+	Nonsense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:48314884C>G	ENST00000435803.1	+	17	5645	c.5621C>G	c.(5620-5622)tCa>tGa	p.S1874*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1874					transport	integral to membrane	ATP binding|ATPase activity	p.S1819*(1)|p.S1874*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCACCATGTTCAAATGAAAGC	0.423000													9	69					0	0	0.006214	0	0
TRPM6	140803	broad.mit.edu	37	9	77353458	77353458	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:77353458C>A	ENST00000451710.3	-	35	5890	c.5653G>T	c.(5653-5655)Ggg>Tgg	p.G1885W	TRPM6_ENST00000449912.2_Missense_Mutation_p.G1876W|TRPM6_ENST00000360774.1_Missense_Mutation_p.G1881W|TRPM6_ENST00000376871.3_Missense_Mutation_p.G718W|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1876W|TRPM6_ENST00000376864.4_Missense_Mutation_p.G1885W|TRPM6_ENST00000376872.3_Missense_Mutation_p.G836W			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1881	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G1881W(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CGGAACTCCCCTGTCATATAC	0.468000													11	64					2.27111e-07	3.23196e-07	0.001368	1	0
A3GALT2	127550	broad.mit.edu	37	1	33778171	33778171	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:33778171G>T	ENST00000442999.3	-	3	127	c.128C>A	c.(127-129)cCc>cAc	p.P43H	RP11-415J8.3_ENST00000588828.1_RNA|RP11-415J8.3_ENST00000457957.2_RNA	NM_001080438.1	NP_001073907.1			alpha 1,3-galactosyltransferase 2									p.P43H(1)					Myeloproliferative disorder(586;0.0393)				GACGCCCATGGGGATGAGGGC	0.627000													5	77					8.12818e-05	0.000106241	0.001984	1	0
SLC45A1	50651	broad.mit.edu	37	1	8390292	8390292	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:8390292G>A	ENST00000471889.1	+	5	1124	c.739G>A	c.(739-741)Gtg>Atg	p.V247M	SLC45A1_ENST00000289877.8_Missense_Mutation_p.V247M|SLC45A1_ENST00000377479.2_Missense_Mutation_p.V281M			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	247					carbohydrate transport	integral to membrane	symporter activity	p.V247M(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGGATACGTGGTCGGCGG	0.607000													5	75					0	0	0.000602	0	0
CLCN1	1180	broad.mit.edu	37	7	143043748	143043748	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:143043748C>A	ENST00000343257.2	+	19	2448	c.2361C>A	c.(2359-2361)acC>acA	p.T787T		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	787					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.T787T(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGAAAACAACCCAGGTGAGAG	0.547000													26	93					1.32003e-05	1.74433e-05	0.005443	1	0
FCGBP	8857	broad.mit.edu	37	19	40368642	40368642	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:40368642C>A	ENST00000221347.6	-	28	12713	c.12706G>T	c.(12706-12708)Gct>Tct	p.A4236S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4236	VWFD 10.					extracellular region	protein binding	p.A4236S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATGGAGGGAGCCAGTGTGCCA	0.642000													15	203					1.50039e-11	2.38969e-11	0.001882	1	0
EMR3	84658	broad.mit.edu	37	19	14743801	14743801	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:14743801C>G	ENST00000253673.5	-	13	1675	c.1575G>C	c.(1573-1575)ttG>ttC	p.L525F	EMR3_ENST00000599900.1_Missense_Mutation_p.L310F|EMR3_ENST00000344373.4_Missense_Mutation_p.L473F|EMR3_ENST00000443157.2_Missense_Mutation_p.L399F	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	525					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L525F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TCCAAAAGACCAAGATAAACA	0.398000													12	37					0	0	0.002450	0	0
DNAH3	55567	broad.mit.edu	37	16	20996905	20996905	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr16:20996905C>T	ENST00000261383.3	-	48	7158	c.7159G>A	c.(7159-7161)Gtg>Atg	p.V2387M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2387					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V2387M(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCATGACCACAGTCAGCTGT	0.448000													8	142					0	0	0.003080	0	0
ABI3BP	25890	broad.mit.edu	37	3	100604424	100604424	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:100604424C>A	ENST00000471714.1	-	6	782	c.673G>T	c.(673-675)Gta>Tta	p.V225L	ABI3BP_ENST00000284322.5_Missense_Mutation_p.V225L|ABI3BP_ENST00000495063.1_Missense_Mutation_p.V225L			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	225						extracellular space		p.V225L(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTCCCATTTACTTTTTTACCT	0.303000													6	8					0.00198382	0.00249143	0.001984	1	0
ZNF644	84146	broad.mit.edu	37	1	91403192	91403192	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:91403192T>A	ENST00000370440.1	-	4	3755	c.3538A>T	c.(3538-3540)Atg>Ttg	p.M1180L	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.M1180L|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M1180L(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCTTCTCCCATCCTTTTATTT	0.353000													19	95					0	0	0.007413	0	0
INTS2	57508	broad.mit.edu	37	17	59967149	59967149	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr17:59967149A>G	ENST00000444766.3	-	15	2081	c.2006T>C	c.(2005-2007)tTa>tCa	p.L669S	INTS2_ENST00000251334.6_Missense_Mutation_p.L661S	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	669					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.L669S(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CAACTTACCTAAAGTCTTCGT	0.368000													7	11					0	0	0.001984	0	0
CASS4	57091	broad.mit.edu	37	20	55027050	55027050	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr20:55027050C>A	ENST00000371336.3	+	5	1019	c.818C>A	c.(817-819)cCc>cAc	p.P273H	CASS4_ENST00000360314.3_Missense_Mutation_p.P273H|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	273					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.P273N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CACGCTCTCCCCAGTTCCAGC	0.517000													37	178					1.47197e-15	2.5377e-15	0.007835	1	0
TMEM184B	25829	broad.mit.edu	37	22	38620938	38620938	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr22:38620938T>A	ENST00000361906.3	-	8	1044	c.836A>T	c.(835-837)cAc>cTc	p.H279L	TMEM184B_ENST00000361684.4_Missense_Mutation_p.H279L	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	279						integral to membrane		p.H279L(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GCGGGCCGAGTGGATTTTGGG	0.632000													5	14					0	0	0.000602	0	0
OTOA	146183	broad.mit.edu	37	16	21698947	21698947	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr16:21698947C>G	ENST00000388958.3	+	7	614	c.613C>G	c.(613-615)Cgc>Ggc	p.R205G	OTOA_ENST00000388956.4_Missense_Mutation_p.R126G|OTOA_ENST00000286149.4_Missense_Mutation_p.R205G	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	205					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.R205G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCGGGACCTGCGCGAGGATGC	0.542000													7	17					0	0	0.001984	0	0
OR11H12	440153	broad.mit.edu	37	14	19378063	19378063	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:19378063C>A	ENST00000550708.1	+	1	542	c.470C>A	c.(469-471)gCc>gAc	p.A157D		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A157D(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCTCTGTGCCAAACTGGTC	0.468000													38	670					2.12129e-23	4.06509e-23	0.003610	1	0
BEND6	221336	broad.mit.edu	37	6	56857338	56857338	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:56857338T>A	ENST00000370748.3	+	3	718	c.283T>A	c.(283-285)Ttg>Atg	p.L95M	BEND6_ENST00000370746.3_Missense_Mutation_p.L95M|BEND6_ENST00000370750.2_Missense_Mutation_p.L95M|BEND6_ENST00000370745.1_Missense_Mutation_p.L95M			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	95								p.L95M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TCGACAGTCTTTGGTCATGCT	0.353000													20	243					0	0	0.002299	0	0
FER1L6	654463	broad.mit.edu	37	8	124992922	124992922	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:124992922G>T	ENST00000522917.1	+	11	1487	c.1281G>T	c.(1279-1281)aaG>aaT	p.K427N	FER1L6_ENST00000399018.1_Missense_Mutation_p.K427N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	427						integral to membrane		p.K427N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGCCTTCCAAGGACAAAGACT	0.458000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	200					2.80697e-09	4.32742e-09	0.000978	1	0
AQP12B	653437	broad.mit.edu	37	2	241622061	241622061	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:241622061C>A	ENST00000407834.3	-	1	256	c.194G>T	c.(193-195)gGg>gTg	p.G65V		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	53						integral to membrane	transporter activity	p.G65V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCCAAAGTCCCCAGCCCAGGG	0.701000													20	32					1.33834e-09	2.07658e-09	0.007413	1	0
ANKRD26	22852	broad.mit.edu	37	10	27375513	27375513	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr10:27375513T>G	ENST00000376087.4	-	5	829	c.664A>C	c.(664-666)Aaa>Caa	p.K222Q	ANKRD26_ENST00000436985.2_Missense_Mutation_p.K222Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	222						centrosome		p.K222Q(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTTTCTTCTTTATATTCTGAA	0.264000													36	121					0	0	0.006999	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030054	95030054	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:95030054C>A	ENST00000557004.1	+	2	656	c.235C>A	c.(235-237)Ccg>Acg	p.P79T	SERPINA4_ENST00000298841.5_Missense_Mutation_p.P79T|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.P79T			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	79					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.P79T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTTTTTCTCCCCGCTGAGCAT	0.612000													40	71					2.59497e-14	4.36427e-14	0.007835	1	0
WBP11P1	441818	broad.mit.edu	37	18	30091910	30091910	+	RNA	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr18:30091910A>G	ENST00000567636.1	+	0	285					NR_003558.1																						GAACAGAAGAACAAAAAACAG	0.423000													22	56					0	0	0.001882	0	0
OR7G2	390882	broad.mit.edu	37	19	9213076	9213076	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:9213076G>T	ENST00000305456.2	-	1	906	c.907C>A	c.(907-909)Cct>Act	p.P303T		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P303T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						ACCATTTGAGGGAACACAGAA	0.458000													24	58					7.88262e-20	1.44165e-19	0.003330	1	0
ATL1	51062	broad.mit.edu	37	14	51058328	51058328	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr14:51058328G>A	ENST00000441560.2	+	5	974	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	ATL1_ENST00000358385.6_Missense_Mutation_p.A165T|ATL1_ENST00000357032.3_Missense_Mutation_p.A165T|ATL1_ENST00000354525.4_Missense_Mutation_p.A165T	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	165					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	p.A165T(1)		central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CACAGTATTTGCCCTTAGCAC	0.353000													20	61					0	0	0.001523	0	0
ZNF586	54807	broad.mit.edu	37	19	58287980	58287980	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:58287980C>A	ENST00000396154.2	+	2	279	c.106C>A	c.(106-108)Cag>Aag	p.Q36K	ZNF586_ENST00000391702.3_5'UTR|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_Intron|ZNF586_ENST00000598183.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q36K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAATGAGGCTCAGAGATGCCT	0.468000													47	220					4.64027e-19	8.42252e-19	0.003610	1	0
UBE2Q1	55585	broad.mit.edu	37	1	154530853	154530853	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:154530853G>A	ENST00000292211.4	-	1	256	c.177C>T	c.(175-177)ttC>ttT	p.F59F	UBE2Q1_ENST00000497453.1_Intron	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	59							ATP binding|protein binding|ubiquitin-protein ligase activity	p.F59F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGCAATGCGGAAGCGCTCGT	0.781000													3	6					0	0	0.004672	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18905849	18905849	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:18905849G>A	ENST00000380548.4	+	27	5260	c.4921G>A	c.(4921-4923)Ggc>Agc	p.G1641S	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.G342S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1641						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.G1641S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACACGGGATGGCATCACCTT	0.527000													9	16					0	0	0.008291	0	0
ARF5	381	broad.mit.edu	37	7	127231284	127231284	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:127231284C>T	ENST00000000233.5	+	6	628	c.474C>T	c.(472-474)acC>acT	p.T158T	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	158					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.T158T(1)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TCCAGGCCACCTGTGCCACCC	0.572000													13	25					0	0	0.002450	0	0
GABRA1	2554	broad.mit.edu	37	5	161317997	161317997	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:161317997T>A	ENST00000428797.2	+	9	1152	c.797T>A	c.(796-798)aTt>aAt	p.I266N	GABRA1_ENST00000420560.1_Missense_Mutation_p.I266N|GABRA1_ENST00000437025.2_Missense_Mutation_p.I266N|GABRA1_ENST00000444819.1_Missense_Mutation_p.I266N|GABRA1_ENST00000023897.6_Missense_Mutation_p.I266N|GABRA1_ENST00000393943.4_Missense_Mutation_p.I266N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	266					gamma-aminobutyric acid signaling pathway|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	p.I266N(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ATGACAGTGATTCTCTCACAA	0.413000													5	113					0	0	0.000602	0	0
MS4A14	84689	broad.mit.edu	37	11	60184410	60184410	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:60184410C>A	ENST00000300187.6	+	5	2246	c.1969C>A	c.(1969-1971)Cac>Aac	p.H657N	MS4A14_ENST00000531787.1_Missense_Mutation_p.H545N|MS4A14_ENST00000531783.1_Missense_Mutation_p.H690N|MS4A14_ENST00000395005.2_Missense_Mutation_p.H640N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	657	Gln-rich.					integral to membrane	receptor activity	p.H657N(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTGGCAATTCCACAAAGGCAA	0.453000													34	85					1.62565e-12	2.64168e-12	0.002445	1	0
TTN	7273	broad.mit.edu	37	2	179592313	179592313	+	Splice_Site	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:179592313T>A	ENST00000589042.1	-	68	20216	c.19993_splice	c.e68+1	p.T6664_splice	TTN_ENST00000591111.1_Splice_Site_p.T6347_splice|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site_p.T5420_splice|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6347	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T5420T(1)		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)			TTTGCACACCTGTCACAAGCA	0.378000													17	227					0	0	0.007413	0	0
NXF1	10482	broad.mit.edu	37	11	62571288	62571288	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:62571288G>A	ENST00000531709.2	-	2	304	c.191C>T	c.(190-192)gCc>gTc	p.A64V	NXF1_ENST00000531131.1_Intron|NXF1_ENST00000294172.2_Missense_Mutation_p.A64V|NXF1_ENST00000532297.1_Missense_Mutation_p.A64V|NXF1_ENST00000439713.2_Missense_Mutation_p.A64V	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	64	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.A64V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCATCCTGGGCATCACTCAT	0.483000													16	153					0	0	0.007413	0	0
NUP214	8021	broad.mit.edu	37	9	134073549	134073549	+	Silent	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:134073549T>C	ENST00000359428.5	+	29	4812	c.4668T>C	c.(4666-4668)tcT>tcC	p.S1556S	NUP214_ENST00000483497.2_Silent_p.S382S|NUP214_ENST00000451030.1_Silent_p.S1557S|NUP214_ENST00000411637.2_Silent_p.S1546S			P35658	NU214_HUMAN	nucleoporin 214kDa	1556	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.S1556S(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTGCAGCATCTAGTACTAGTC	0.562000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								3	88					0	0	0.004672	0	0
TIGD4	201798	broad.mit.edu	37	4	153691222	153691222	+	Missense_Mutation	SNP	G	G	A	rs149761550	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr4:153691222G>A	ENST00000304337.2	-	2	1755	c.935C>T	c.(934-936)tCt>tTt	p.S312F		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	312	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.S312F(1)|p.S312Y(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ACATTTGGAAGATAAACATGA	0.348000													49	81					0	0	0.003610	0	0
CDKAL1	54901	broad.mit.edu	37	6	21065370	21065370	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:21065370G>C	ENST00000274695.4	+	12	1314	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q	CDKAL1_ENST00000378624.4_Missense_Mutation_p.E313Q|CDKAL1_ENST00000378610.1_Missense_Mutation_p.E383Q	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	383					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	p.E383Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			ACTTGTTGAAGAGTACAAATT	0.373000													26	71					0	0	0.005443	0	0
KRT6B	3854	broad.mit.edu	37	12	52843583	52843583	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:52843583G>C	ENST00000252252.3	-	4	918	c.871C>G	c.(871-873)Ctt>Gtt	p.L291V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	291	Coil 1B.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.L291V(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCATCTGTAAGAGTGTCTGCC	0.498000													6	148					0	0	0.001984	0	0
BCL6	604	broad.mit.edu	37	3	187447128	187447128	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:187447128G>T	ENST00000406870.2	-	5	1431	c.1065C>A	c.(1063-1065)atC>atA	p.I355I	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Silent_p.I355I|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Silent_p.I355I	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	355					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I355I(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AAGCCTGGAGGATGCAGGCAT	0.572000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								27	208					7.41945e-09	1.12225e-08	0.005443	1	0
SCN11A	11280	broad.mit.edu	37	3	38991610	38991610	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr3:38991610C>A	ENST00000302328.3	-	1	442	c.244G>T	c.(244-246)Gac>Tac	p.D82Y	SCN11A_ENST00000456224.3_Missense_Mutation_p.D82Y|SCN11A_ENST00000444237.2_Missense_Mutation_p.D82Y|SCN11A_ENST00000450244.1_Missense_Mutation_p.D82Y	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	82					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D82Y(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TAGAATGGGTCCAAGTCTTCC	0.552000													29	79					5.61819e-17	9.9351e-17	0.005443	1	0
NPY4R	5540	broad.mit.edu	37	10	47087519	47087519	+	Missense_Mutation	SNP	C	C	A	rs151042454	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr10:47087519C>A	ENST00000374312.1	+	3	1155	c.736C>A	c.(736-738)Cgc>Agc	p.R246S	NPY4R_ENST00000395716.1_Missense_Mutation_p.R246S	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.R246S(1)									GAGGCAGGGGCGCGTGTTTCA	0.592000													12	70					0.00010058	0.000131108	0.001368	1	0
PSG4	5672	broad.mit.edu	37	19	43698709	43698709	+	Silent	SNP	G	G	C	rs146368793		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:43698709G>C	ENST00000405312.3	-	5	1263	c.1026C>G	c.(1024-1026)acC>acG	p.T342T	PSG4_ENST00000244295.9_Silent_p.T249T|PSG4_ENST00000433626.2_Silent_p.T249T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	342	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.T249T(1)|p.T342T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AACGGTAATAGGTGAATGAAG	0.488000													79	209					0	0	0.003610	0	0
KANK2	25959	broad.mit.edu	37	19	11303645	11303645	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr19:11303645C>A	ENST00000432929.2	-	4	1471	c.1111G>T	c.(1111-1113)Ggt>Tgt	p.G371C	KANK2_ENST00000589359.1_Missense_Mutation_p.G371C|KANK2_ENST00000589894.1_Missense_Mutation_p.G371C|KANK2_ENST00000355150.5_Missense_Mutation_p.G371C|KANK2_ENST00000586659.1_Missense_Mutation_p.G371C	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	371								p.G371C(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAGGCCTACCAGGCATTGCC	0.667000													17	42					5.3912e-06	7.3047e-06	0.006122	1	0
TARBP2	6895	broad.mit.edu	37	12	53899014	53899014	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:53899014G>A	ENST00000266987.2	+	7	1192	c.709G>A	c.(709-711)Gag>Aag	p.E237K	TARBP2_ENST00000456234.2_Missense_Mutation_p.E216K|TARBP2_ENST00000394357.2_Missense_Mutation_p.E216K|TARBP2_ENST00000552857.1_Intron	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	237	Sufficient for interaction with DICER1.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	p.E237K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GGATGGCAATGAGGTGGAGCC	0.602000													6	86					0	0	0.001984	0	0
THEM5	284486	broad.mit.edu	37	1	151820280	151820280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:151820280G>A	ENST00000368817.5	-	5	765	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	212							hydrolase activity	p.Q212*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TAAAGCTTCTGGTCCTCAATC	0.567000													27	59					0	0	0.003610	0	0
RP1L1	94137	broad.mit.edu	37	8	10465877	10465877	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:10465877C>A	ENST00000382483.3	-	4	5954	c.5731G>T	c.(5731-5733)Gca>Tca	p.A1911S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1911					intracellular signal transduction			p.A1911S(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCTTTTCTGCCTCCGGGGCT	0.597000													8	268					0.000157383	0.00020241	0.003080	1	0
NLRP3	114548	broad.mit.edu	37	1	247592928	247592928	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:247592928T>G	ENST00000366497.2	+	5	2978	c.2198T>G	c.(2197-2199)cTc>cGc	p.L733R	NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366496.2_Missense_Mutation_p.L733R|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.L733R|NLRP3_ENST00000336119.3_Missense_Mutation_p.L733R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	790					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L733R(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGCCGGGGCCTCTTTTCAGTT	0.478000													4	186					0	0	0.000248	0	0
KRT35	3886	broad.mit.edu	37	17	39633867	39633867	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr17:39633867G>A	ENST00000246639.2	-	6	1165	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	KRT35_ENST00000393989.1_Missense_Mutation_p.R375W			Q92764	KRT35_HUMAN	keratin 35	375	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	p.R375W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TGGTTCTGCCGCTCCAGGTCA	0.652000													7	97					0	0	0.001984	0	0
ACTR1B	10120	broad.mit.edu	37	2	98277062	98277062	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:98277062C>A	ENST00000289228.5	-	3	377	c.161G>T	c.(160-162)gGg>gTg	p.G54V		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	54						centrosome|dynactin complex	ATP binding|protein binding	p.G54V(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GAAGAGGTCCCCCTCCAGGGC	0.607000													24	85					3.17567e-06	4.33948e-06	0.008361	1	0
TBC1D10A	83874	broad.mit.edu	37	22	30688782	30688782	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr22:30688782C>A	ENST00000215790.7	-	9	1273	c.1109G>T	c.(1108-1110)cGg>cTg	p.R370L	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R377L|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R282L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	370						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.R370L(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTGCCAGCGCCGCAGCTGAAT	0.647000													3	22					0.004672	0.00576213	0.004672	1	0
ACSL6	23305	broad.mit.edu	37	5	131324551	131324551	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:131324551A>G	ENST00000379264.2	-	6	707	c.599T>C	c.(598-600)gTc>gCc	p.V200A	ACSL6_ENST00000357096.1_Missense_Mutation_p.V140A|ACSL6_ENST00000379249.3_Missense_Mutation_p.V175A|ACSL6_ENST00000379255.1_Missense_Mutation_p.V140A|ACSL6_ENST00000296869.4_Missense_Mutation_p.V200A|ACSL6_ENST00000379272.2_Missense_Mutation_p.V175A|ACSL6_ENST00000379240.1_Missense_Mutation_p.V175A|ACSL6_ENST00000431707.1_Missense_Mutation_p.V140A|ACSL6_ENST00000379246.1_Missense_Mutation_p.V186A|ACSL6_ENST00000379244.1_Missense_Mutation_p.V175A|ACSL6_ENST00000544770.1_Missense_Mutation_p.V84A|ACSL6_ENST00000543479.1_Missense_Mutation_p.V175A	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	175					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.V200A(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAGAGCGGGACCACCACCAT	0.597000													4	151					0	0	0.001168	0	0
PDE1C	5137	broad.mit.edu	37	7	31917643	31917643	+	Silent	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:31917643A>G	ENST00000396184.3	-	6	636	c.432T>C	c.(430-432)taT>taC	p.Y144Y	PDE1C_ENST00000321453.7_Silent_p.Y144Y|PDE1C_ENST00000396191.1_Silent_p.Y144Y|PDE1C_ENST00000396193.1_Silent_p.Y204Y|PDE1C_ENST00000396182.2_Silent_p.Y144Y	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	144					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.Y144Y(2)|p.Y204Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATGTCCGTCTATACATTCTGA	0.348000													26	28					0	0	0.006320	0	0
PRR14	78994	broad.mit.edu	37	16	30667570	30667570	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr16:30667570G>A	ENST00000542965.2	+	11	2152	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	PRR14_ENST00000300835.4_Missense_Mutation_p.E566K			Q9BWN1	PRR14_HUMAN	proline rich 14	566								p.E566K(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCGGCTGGAGGAGCTAGATGC	0.642000													6	72					0	0	0.001168	0	0
DOPEY2	9980	broad.mit.edu	37	21	37623551	37623551	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr21:37623551G>C	ENST00000399151.3	+	22	5175	c.5090G>C	c.(5089-5091)aGa>aCa	p.R1697T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1697					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.R1697T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTGTGGAGCAGAAAGAAAGCC	0.418000													25	79					0	0	0.006320	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			15	16					8.60227e-14	1.43173e-13	0.004007	1	0
PLCL1	5334	broad.mit.edu	37	2	198949108	198949108	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:198949108G>T	ENST00000428675.1	+	2	1265	c.867G>T	c.(865-867)aaG>aaT	p.K289N	PLCL1_ENST00000437704.2_Missense_Mutation_p.K191N	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	289					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.K289N(1)|p.K191N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAATCCAGAAGAGCAAGGAAA	0.403000													8	129					5.4927e-09	8.36073e-09	0.004482	1	0
TENM1	10178	broad.mit.edu	37	X	123787580	123787580	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chrX:123787580C>A	ENST00000422452.2	-	7	1285	c.1222G>T	c.(1222-1224)Gtc>Ttc	p.V408F	TENM1_ENST00000371130.3_Missense_Mutation_p.V408F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.V410F(1)									GTCTGCATGACCTGTGCACCA	0.398000													4	89					0.00116845	0.00147126	0.001168	1	0
GLCCI1	113263	broad.mit.edu	37	7	8110750	8110750	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:8110750A>T	ENST00000223145.5	+	6	1723	c.1166A>T	c.(1165-1167)gAt>gTt	p.D389V		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	389								p.D389V(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TTGCTCTATGATCGTGATAAA	0.443000													19	88					0	0	0.008871	0	0
ASTN1	460	broad.mit.edu	37	1	176927584	176927584	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:176927584G>T	ENST00000367654.2	-	10	1670	c.1657C>A	c.(1657-1659)Ccc>Acc	p.P553T	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.P545T|ASTN1_ENST00000361833.2_Missense_Mutation_p.P545T|ASTN1_ENST00000424564.2_Missense_Mutation_p.P545T			O14525	ASTN1_HUMAN	astrotactin 1	553					cell migration|neuron cell-cell adhesion	integral to membrane		p.P545T(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGCTGAGGGGCAACCACATG	0.557000													9	28					5.4927e-09	8.36073e-09	0.004482	1	0
HEATR1	55127	broad.mit.edu	37	1	236761272	236761272	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:236761272C>A	ENST00000366582.3	-	5	623	c.509G>T	c.(508-510)gGa>gTa	p.G170V	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.G170V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	170					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.G170V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TAACGGCACTCCAGATTGCTG	0.378000													26	54					1.04121e-07	1.5269e-07	0.005443	1	0
TIAM1	7074	broad.mit.edu	37	21	32559330	32559330	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr21:32559330T>A	ENST00000286827.3	-	15	3120	c.2649A>T	c.(2647-2649)ttA>ttT	p.L883F	TIAM1_ENST00000541036.1_Missense_Mutation_p.L823F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	883	PDZ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.L883F(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTTGGAAGCTAAACCGGTTT	0.438000													109	176					0	0	0.003610	0	0
HAS2	3037	broad.mit.edu	37	8	122641478	122641478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:122641478G>A	ENST00000303924.4	-	2	640	c.103C>T	c.(103-105)Cag>Tag	p.Q35*		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	35						integral to plasma membrane	hyaluronan synthase activity	p.Q35*(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGATAAACTGGTAGCCAACA	0.418000													8	149					0	0	0.003080	0	0
TRRAP	8295	broad.mit.edu	37	7	98592340	98592340	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:98592340G>T	ENST00000359863.4	+	66	10345	c.10136G>T	c.(10135-10137)gGg>gTg	p.G3379V	TRRAP_ENST00000446306.3_Missense_Mutation_p.G3368V|TRRAP_ENST00000355540.3_Missense_Mutation_p.G3350V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3379					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.G3379V(1)|p.G3350V(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCACGTTTGGGGTGGGCCTG	0.562000													60	167					2.50483e-33	5.08364e-33	0.003610	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554464	140554464	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:140554464C>A	ENST00000231137.3	+	1	2222	c.2048C>A	c.(2047-2049)tCg>tAg	p.S683*		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		683					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S683*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCCAACTCGCTCACCGTC	0.706000													39	80					2.05212e-20	3.76744e-20	0.005524	1	0
CLDN20	49861	broad.mit.edu	37	6	155597138	155597138	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:155597138C>G	ENST00000367165.3	+	2	665	c.285C>G	c.(283-285)atC>atG	p.I95M	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	95					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.I95M(1)		endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		CTTTGGGGATCTGCACTTCCA	0.542000													3	75					0	0	0.004672	0	0
SHISA2	387914	broad.mit.edu	37	13	26620766	26620766	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr13:26620766G>A	ENST00000319420.3	-	2	828	c.773C>T	c.(772-774)cCc>cTc	p.P258L		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	258					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		p.P258L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						AGCTGTCATGGGCACAGAGTC	0.572000													20	52					0	0	0.008871	0	0
T	6862	broad.mit.edu	37	6	166571970	166571970	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:166571970C>T	ENST00000296946.2	-	9	1609	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	T_ENST00000366871.3_Missense_Mutation_p.A323T	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	381					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.A381T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTGTAGTGCGCGGGGGAGCCC	0.711000									Chordoma, Familial Clustering of				4	53					0	0	0.000248	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333578	37333578	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr22:37333578C>A	ENST00000262825.5	+	14	1963	c.1746C>A	c.(1744-1746)gcC>gcA	p.A582A	CSF2RB_ENST00000536485.1_Silent_p.A523A|CSF2RB_ENST00000406230.1_Silent_p.A582A|CSF2RB_ENST00000403662.3_Silent_p.A576A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	576					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.A576A(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CGCCTGCCGCCTCCCACACAC	0.657000													5	22					0.00448238	0.00554248	0.004482	1	0
TRPC4	7223	broad.mit.edu	37	13	38320115	38320115	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr13:38320115G>T	ENST00000379705.3	-	3	1713	c.856C>A	c.(856-858)Ctt>Att	p.L286I	TRPC4_ENST00000426868.2_Missense_Mutation_p.L286I|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.L286I|TRPC4_ENST00000355779.2_Missense_Mutation_p.L286I|TRPC4_ENST00000447043.1_Missense_Mutation_p.L286I|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.L286I|TRPC4_ENST00000379673.2_Missense_Mutation_p.L286I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	286	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.L286I(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGTCTTGCAAGATCATTTCCA	0.388000													10	203					0.000673444	0.000854688	0.008291	1	0
LRRK1	79705	broad.mit.edu	37	15	101464888	101464888	+	Silent	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr15:101464888G>C	ENST00000388948.3	+	2	410	c.51G>C	c.(49-51)ccG>ccC	p.P17P	LRRK1_ENST00000532029.2_Silent_p.P17P|LRRK1_ENST00000284395.5_5'UTR	NM_024652.3	NP_078928.3	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	17					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P17P(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGTGGGGCCGGAGGAGTCAG	0.592000													12	29					0	0	0.002450	0	0
TPH1	7166	broad.mit.edu	37	11	18047172	18047172	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:18047172C>A	ENST00000250018.2	-	7	1442	c.880G>T	c.(880-882)Ggc>Tgc	p.G294C	TPH1_ENST00000341556.2_Missense_Mutation_p.G294C	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	294					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.G294C(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GAAGCCAAGCCAATTTCTTGG	0.453000													42	83					3.43241e-23	6.49997e-23	0.002222	1	0
HTR7	3363	broad.mit.edu	37	10	92616928	92616928	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr10:92616928C>A	ENST00000371721.3	-	1	743	c.501G>T	c.(499-501)acG>acT	p.T167T	HTR7_ENST00000336152.3_Silent_p.T167T|HTR7_ENST00000277874.6_Silent_p.T167T|HTR7_ENST00000371719.2_Silent_p.T167T			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	167					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	p.T167T(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TGATCGAGGCCGTGCAGCACA	0.617000													17	7					5.3912e-06	7.33507e-06	0.006122	1	0
CYP11B2	1585	broad.mit.edu	37	8	143996605	143996605	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:143996605G>T	ENST00000323110.2	-	3	454	c.452C>A	c.(451-453)cCc>cAc	p.P151H		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	151					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.P151H(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CACGGCCTTGGGCGACAGCAC	0.637000									Familial Hyperaldosteronism type I				34	41					1.36615e-20	2.52815e-20	0.002836	1	0
IL21R	50615	broad.mit.edu	37	16	27459937	27459937	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:27459937A>G	ENST00000337929.3	+	9	1423	c.950A>G	c.(949-951)tAc>tGc	p.Y317C	IL21R_ENST00000395754.4_Missense_Mutation_p.Y317C|IL21R_ENST00000564089.1_Missense_Mutation_p.Y317C|IL21R_ENST00000564583.1_3'UTR|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Missense_Mutation_p.Y317C	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	317					natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.Y317C(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGGAGGTGTACAGCTGCCAC	0.632000			T	BCL6	NHL								8	49					0	0	0.003080	0	0
MFGE8	4240	broad.mit.edu	37	15	89450563	89450563	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr15:89450563A>G	ENST00000539437.1	-	4	362	c.226T>C	c.(226-228)Tca>Cca	p.S76P	MFGE8_ENST00000566497.1_Missense_Mutation_p.S84P|MFGE8_ENST00000268151.7_Missense_Mutation_p.S84P|MFGE8_ENST00000559997.1_5'UTR|MFGE8_ENST00000542878.1_Missense_Mutation_p.S40P|MFGE8_ENST00000268150.8_Missense_Mutation_p.S84P			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	84	F5/8 type C 1.		M -> L (in dbSNP:rs1878326).		angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			p.S84P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					GCGATCTGTGAGTTGGCAATG	0.632000													5	31					0	0	0.001168	0	0
MICAL3	57553	broad.mit.edu	37	22	18301725	18301725	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr22:18301725C>A	ENST00000441493.2	-	26	4054	c.3702G>T	c.(3700-3702)agG>agT	p.R1234S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1234	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.R1234S(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGACAGGAGTCCTAGCTTCTG	0.652000													9	21					0.00448238	0.00555126	0.004482	1	0
SPAG9	9043	broad.mit.edu	37	17	49079164	49079164	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr17:49079164C>G	ENST00000262013.7	-	13	1727	c.1519G>C	c.(1519-1521)Gaa>Caa	p.E507Q	SPAG9_ENST00000357122.4_Missense_Mutation_p.E493Q|SPAG9_ENST00000510283.1_Missense_Mutation_p.E350Q|SPAG9_ENST00000505279.1_Missense_Mutation_p.E493Q	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	507					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		p.E493Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CGGGCCATTTCTACTCTAGTA	0.413000													12	89					0	0	0.001855	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855060	79855060	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:79855060C>A	ENST00000338682.3	-	5	1451	c.779G>T	c.(778-780)aGa>aTa	p.R260I		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	260						cytoplasm|nucleus		p.R260I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGAAGCCACTCTGTTCTGGTG	0.532000													31	90					4.4194e-11	7.04479e-11	0.002836	1	0
PML	5371	broad.mit.edu	37	15	74290522	74290522	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr15:74290522G>T	ENST00000565898.1	+	2	391	c.307G>T	c.(307-309)Gcc>Tcc	p.A103S	PML_ENST00000359928.4_Missense_Mutation_p.A103S|PML_ENST00000563500.1_Missense_Mutation_p.A103S|PML_ENST00000569965.1_Missense_Mutation_p.A103S|PML_ENST00000567543.1_Missense_Mutation_p.A103S|PML_ENST00000435786.2_Missense_Mutation_p.A103S|PML_ENST00000354026.6_Missense_Mutation_p.A103S|PML_ENST00000395132.2_Missense_Mutation_p.A103S|PML_ENST00000395135.3_Missense_Mutation_p.A103S|PML_ENST00000564428.1_Missense_Mutation_p.A103S|PML_ENST00000436891.3_Missense_Mutation_p.A103S|PML_ENST00000569477.1_Missense_Mutation_p.A103S|PML_ENST00000268059.6_Missense_Mutation_p.A103S|PML_ENST00000268058.3_Missense_Mutation_p.A103S			P29590	PML_HUMAN	promyelocytic leukemia	103					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.A103S(3)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGACACACCCGCCCTGGATAA	0.647000			T	"""RARA, PAX5"""	"""APL, ALL"""								6	37					1.06961e-07	1.57507e-07	0.003080	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110523010	110523010	+	Silent	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:110523010A>T	ENST00000378402.5	+	71	11504	c.11400A>T	c.(11398-11400)ccA>ccT	p.P3800P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3800					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P3804P(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTAGGCCCACAGGATCATG	0.373000										HNSCC(38;0.096)			38	487					0	0	0.002852	0	0
TENM1	10178	broad.mit.edu	37	X	123554295	123554295	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chrX:123554295C>A	ENST00000422452.2	-	25	4911	c.4848G>T	c.(4846-4848)tgG>tgT	p.W1616C	TENM1_ENST00000371130.3_Missense_Mutation_p.W1609C|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.W1611C(1)									TTATAGTCAGCCAGTATACTT	0.527000													13	21					2.27111e-07	3.25503e-07	0.001368	1	0
CTAGE1	64693	broad.mit.edu	37	18	19997690	19997690	+	Silent	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr18:19997690A>G	ENST00000391403.2	-	1	188	c.85T>C	c.(85-87)Ttg>Ctg	p.L29L		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	29						integral to membrane		p.L29L(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CTTCTCCACAAGAAGAGAACA	0.408000													13	38					0	0	0.001368	0	0
PDHA2	5161	broad.mit.edu	37	4	96762444	96762444	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr4:96762444G>T	ENST00000295266.4	+	1	1206	c.1143G>T	c.(1141-1143)tgG>tgT	p.W381C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	381					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.W381C(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CAAATCCATGGATCAAGTTTA	0.413000													13	90					4.3838e-07	6.19116e-07	0.001855	1	0
ZNF235	9310	broad.mit.edu	37	19	44792687	44792687	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:44792687T>C	ENST00000291182.4	-	5	1003	c.901A>G	c.(901-903)Agt>Ggt	p.S301G	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S301G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GAGCTATAACTGGTGTCCTTC	0.418000													6	78					0	0	0.001984	0	0
DNAJC21	134218	broad.mit.edu	37	5	34937468	34937468	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:34937468G>T	ENST00000382021.2	+	5	703	c.476G>T	c.(475-477)tGc>tTc	p.C159F	DNAJC21_ENST00000342382.4_Missense_Mutation_p.C159F|DNAJC21_ENST00000303525.7_Missense_Mutation_p.C159F	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	159					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	p.C159F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CAGAGTTTCTGCACTCAAAAG	0.373000													28	33					2.2171e-23	4.23265e-23	0.001786	1	0
SYMPK	8189	broad.mit.edu	37	19	46326729	46326729	+	Splice_Site	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:46326729G>C	ENST00000245934.7	-	20	2845	c.2599_splice	c.e20-1	p.V867_splice	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	867					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.V867V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGAGGGTGGGACTGCATGGA	0.637000													3	31					0	0	0.004672	0	0
MYOCD	93649	broad.mit.edu	37	17	12666716	12666716	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr17:12666716C>G	ENST00000425538.1	+	14	2916	c.2716C>G	c.(2716-2718)Cca>Gca	p.P906A	MYOCD_ENST00000343344.4_Missense_Mutation_p.P858A|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	858					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.P858A(1)|p.P906A(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGAGATCTTGCCAGGCCCCCT	0.498000													6	61					0	0	0.001168	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396338	38396338	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:38396338C>A	ENST00000377698.3	+	2	746	c.593C>A	c.(592-594)cCg>cAg	p.P198Q		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	198					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.P198Q(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AAACTTGCCCCGGCACTCGCC	0.597000													28	72					1.39806e-14	2.38608e-14	0.008361	1	0
GRM1	2911	broad.mit.edu	37	6	146720434	146720434	+	Silent	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:146720434G>C	ENST00000392299.2	+	8	2729	c.2259G>C	c.(2257-2259)gtG>gtC	p.V753V	GRM1_ENST00000361719.2_Silent_p.V753V|GRM1_ENST00000507907.1_Silent_p.V753V|GRM1_ENST00000355289.4_Silent_p.V753V|GRM1_ENST00000492807.2_Silent_p.V753V|GRM1_ENST00000282753.1_Silent_p.V753V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	753					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.V753V(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACCTGGGTGTGGTGGCCCCTT	0.512000													52	84					0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237789031	237789031	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:237789031C>A	ENST00000366574.2	+	40	6410	c.6093C>A	c.(6091-6093)tcC>tcA	p.S2031S	RYR2_ENST00000360064.6_Silent_p.S2029S|RYR2_ENST00000542537.1_Silent_p.S2015S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2031	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S2029S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCTGCTATCCCTGGTAGAAA	0.423000													26	81					1.42536e-11	2.31022e-11	0.004656	1	0
NTRK3	4916	broad.mit.edu	37	15	88669523	88669523	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr15:88669523G>C	ENST00000394480.1	-	13	1696	c.1375C>G	c.(1375-1377)Cgg>Ggg	p.R459G	NTRK3_ENST00000357724.2_Missense_Mutation_p.R451G|NTRK3_ENST00000540489.2_Missense_Mutation_p.R459G|NTRK3_ENST00000360948.2_Missense_Mutation_p.R459G|NTRK3_ENST00000558676.1_Missense_Mutation_p.R451G|NTRK3_ENST00000557856.1_Missense_Mutation_p.R451G|NTRK3_ENST00000542733.2_Missense_Mutation_p.R361G|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000317501.3_Missense_Mutation_p.R459G|NTRK3_ENST00000355254.2_Missense_Mutation_p.R459G	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	459					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R459W(3)|p.R459G(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AATTTGGACCGTCGACCATAT	0.433000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			14	33					0	0	0.001855	0	0
SMARCA2	6595	broad.mit.edu	37	9	2047450	2047450	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:2047450G>T	ENST00000382203.1	+	5	1221	c.1012G>T	c.(1012-1014)Gac>Tac	p.D338Y	SMARCA2_ENST00000382194.1_Missense_Mutation_p.D338Y|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D338Y|SMARCA2_ENST00000357248.2_Missense_Mutation_p.D338Y			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	338					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	p.D334Y(1)|p.D338Y(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCAAGGCCTGGACCCCGTGGA	0.697000													9	18					1.76689e-08	2.67527e-08	0.006214	1	0
MEGF8	1954	broad.mit.edu	37	19	42867243	42867243	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:42867243G>T	ENST00000334370.4	+	34	6536	c.5901G>T	c.(5899-5901)tgG>tgT	p.W1967C	MEGF8_ENST00000251268.6_Missense_Mutation_p.W2034C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2034	PSI 5.					integral to membrane	calcium ion binding|structural molecule activity	p.W2034C(1)|p.W1575C(1)|p.W1967C(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTATGACTGGACGTGCTTCA	0.637000													8	16					5.4927e-09	8.42214e-09	0.004482	1	0
UBQLN3	50613	broad.mit.edu	37	11	5529784	5529784	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:5529784G>C	ENST00000311659.4	-	2	1152	c.1005C>G	c.(1003-1005)aaC>aaG	p.N335K	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	335								p.N335K(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCCAGAAAGTTTGGAAACC	0.512000													3	118					0	0	0.004672	0	0
PI15	51050	broad.mit.edu	37	8	75757410	75757410	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:75757410A>C	ENST00000260113.2	+	4	619	c.440A>C	c.(439-441)aAa>aCa	p.K147T	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.K147T|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	147						extracellular region	peptidase inhibitor activity	p.K147T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GATGAAGTGAAAGATTATGCT	0.398000													9	309					0	0	0.004482	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135263563	135263563	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:135263563C>A	ENST00000265605.2	-	3	494	c.426G>T	c.(424-426)cgG>cgT	p.R142R	ALDH8A1_ENST00000367845.2_Silent_p.R142R|ALDH8A1_ENST00000367847.2_Silent_p.R142R|RP11-349J5.2_ENST00000416448.2_RNA	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	142					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.R142R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CCACCGGGGCCCGCACCGTGT	0.582000													27	40					1.50538e-07	2.19006e-07	0.006320	1	0
BAGE2	85319	broad.mit.edu	37	21	11038784	11038784	+	RNA	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr21:11038784C>A	ENST00000470054.1	-	0	1419									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTGGTTTACCCATGCCAGTT	0.408000													8	590					0.000274275	0.000352327	0.004482	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107460276	107460276	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:107460276G>A	ENST00000409382.3	-	2	768	c.158C>T	c.(157-159)cCg>cTg	p.P53L	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P53L|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.P53L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	53					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P53L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCCCTGCACCGGCAGGAGCCT	0.682000													8	41					0	0	0.003080	0	0
NSMAF	8439	broad.mit.edu	37	8	59511849	59511849	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:59511849C>G	ENST00000038176.3	-	19	1739	c.1527G>C	c.(1525-1527)tgG>tgC	p.W509C	NSMAF_ENST00000427130.2_Missense_Mutation_p.W540C	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	509	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	p.W509C(1)|p.W540C(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTAGATCAATCCACTCGTGAA	0.373000													36	336					0	0	0.005524	0	0
SHANK2	22941	broad.mit.edu	37	11	70507767	70507767	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:70507767C>G	ENST00000338508.4	-	22	1872	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q	SHANK2_ENST00000409161.1_Missense_Mutation_p.E35Q|SHANK2_ENST00000409530.1_Missense_Mutation_p.E35Q|SHANK2_ENST00000357171.3_Missense_Mutation_p.E36Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.E245Q|SHANK2_ENST00000449116.2_Missense_Mutation_p.E36Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.E36Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	245					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.E36Q(2)|p.E625Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCGTCTTCTCCTCAATAATG	0.547000													27	202					0	0	0.006320	0	0
NEFH	4744	broad.mit.edu	37	22	29881765	29881765	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr22:29881765C>A	ENST00000310624.6	+	3	1170	c.1137C>A	c.(1135-1137)gcC>gcA	p.A379A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	379	Coil 2B.|Rod.				cell death|nervous system development	neurofilament		p.A379A(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GGGAGATGGCCGCCCAGCTGC	0.572000													12	43					4.3838e-07	6.19116e-07	0.001855	1	0
OR6K6	128371	broad.mit.edu	37	1	158725166	158725166	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:158725166G>T	ENST00000368144.2	+	1	657	c.561G>T	c.(559-561)gaG>gaT	p.E187D		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E187D(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGCTTCCTGAGATTGCATGGA	0.483000													51	96					8.00217e-19	1.45303e-18	0.003610	1	0
DLX5	1749	broad.mit.edu	37	7	96650227	96650227	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:96650227G>T	ENST00000222598.4	-	3	1164	c.691C>A	c.(691-693)Cgc>Agc	p.R231S	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	231					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R231S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTGAGCGAGCGGGACGAGCCC	0.657000													15	30					6.81908e-15	1.1721e-14	0.002450	1	0
MAF1	84232	broad.mit.edu	37	8	145161786	145161786	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:145161786G>C	ENST00000534585.1	+	6	1150	c.759G>C	c.(757-759)gaG>gaC	p.E253D	MAF1_ENST00000532522.1_Missense_Mutation_p.E223D|MAF1_ENST00000322428.5_Missense_Mutation_p.E223D			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	223					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		p.E223D(1)		central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACATGGAGCTGGGGGAGG	0.637000													4	48					0	0	0.000248	0	0
CDH10	1008	broad.mit.edu	37	5	24537674	24537674	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:24537674G>T	ENST00000264463.4	-	3	848	c.341C>A	c.(340-342)aCa>aAa	p.T114K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	114	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T114K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AATTCGCCTTGTGGCATGAAT	0.408000										HNSCC(23;0.051)			26	118					4.22769e-11	6.76151e-11	0.006320	1	0
CSNK1G3	1456	broad.mit.edu	37	5	122909090	122909090	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:122909090G>T	ENST00000395412.1	+	5	1012	c.293G>T	c.(292-294)gGt>gTt	p.G98V	CSNK1G3_ENST00000511130.2_5'UTR|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.G23V|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.G98V|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.G98V|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.G98V|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.G98V|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.G98V|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.G98V	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	98	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.G98V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		CCCCCAGATGGTATACCTCAA	0.338000													8	159					0.000274275	0.000352327	0.004482	1	0
DNTT	1791	broad.mit.edu	37	10	98078206	98078206	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr10:98078206C>A	ENST00000419175.1	+	2	471	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	DNTT_ENST00000371174.2_Missense_Mutation_p.L101I	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	101	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.L101I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		ACAACCAGAGCTCCTCGATGT	0.488000													39	116					2.19358e-23	4.20436e-23	0.005524	1	0
TPTE	7179	broad.mit.edu	37	21	10908861	10908861	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr21:10908861T>C	ENST00000298232.7	-	22	1797	c.1430A>G	c.(1429-1431)tAc>tGc	p.Y477C	TPTE_ENST00000342420.5_Missense_Mutation_p.Y457C|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.Y495C	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	495	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Y477C(1)|p.Y495C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAACCAGAAGTAAAATGAGCA	0.279000													4	97					0	0	0.000602	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997239	146997239	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:146997239G>C	ENST00000361727.3	+	9	1871	c.1355G>C	c.(1354-1356)gGg>gCg	p.G452A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	452	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G452A(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCAGGTTCTGGGTTGAATGAT	0.373000										HNSCC(39;0.1)			3	73					0	0	0.004672	0	0
EYA1	2138	broad.mit.edu	37	8	72156924	72156924	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:72156924G>T	ENST00000340726.3	-	12	1693	c.1054C>A	c.(1054-1056)Cca>Aca	p.P352T	EYA1_ENST00000388741.2_Missense_Mutation_p.P318T|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388740.3_Missense_Mutation_p.P319T|EYA1_ENST00000388743.2_Missense_Mutation_p.P351T|EYA1_ENST00000303824.7_Missense_Mutation_p.P346T|EYA1_ENST00000388742.4_Missense_Mutation_p.P352T	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	352					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.P352T(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAAGTGGGTGGATCCTAAAAT	0.373000													13	37					7.03913e-09	1.07592e-08	0.001368	1	0
RPGRIP1	57096	broad.mit.edu	37	14	21795901	21795901	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:21795901G>T	ENST00000206660.6	+	17	2830	c.2830G>T	c.(2830-2832)Ggg>Tgg	p.G944W	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.G906W|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.G601W|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.G303W|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.G944W|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.G270W			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	944					response to stimulus|visual perception	cilium		p.G560W(1)|p.G944W(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TCAGACTAAGGGGAAGGATAC	0.483000													18	43					1.02788e-11	1.67726e-11	0.004990	1	0
FLG	2312	broad.mit.edu	37	1	152279834	152279834	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:152279834A>T	ENST00000368799.1	-	3	7563	c.7528T>A	c.(7528-7530)Tcc>Acc	p.S2510T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2510	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2510T(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCACTTCTGGATCCTGAGTGC	0.557000									Ichthyosis				15	674					0	0	0.003163	0	0
CR1	1378	broad.mit.edu	37	1	207758146	207758146	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:207758146C>A	ENST00000367049.4	+	33	5455	c.5455C>A	c.(5455-5457)Cgc>Agc	p.R1819S	CR1_ENST00000367051.1_Missense_Mutation_p.R1369S|CR1_ENST00000400960.2_Missense_Mutation_p.R1369S|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.R1369S|CR1_ENST00000367053.1_Missense_Mutation_p.R1369S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1369	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1374S(1)|p.R1819S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGCACCATCCGCTGCACAAG	0.522000													13	212					0.000308642	0.000395422	0.003163	1	0
XYLT1	64131	broad.mit.edu	37	16	17228489	17228489	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:17228489C>G	ENST00000261381.6	-	9	1952	c.1868G>C	c.(1867-1869)gGt>gCt	p.G623A	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	623					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G623A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCGGGGTACCTGCAGGGTA	0.572000													46	120					0	0	0.003610	0	0
BRINP3	339479	broad.mit.edu	37	1	190067324	190067324	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:190067324G>T	ENST00000367462.3	-	8	2356	c.2125C>A	c.(2125-2127)Cgt>Agt	p.R709S	FAM5C_ENST00000534846.1_Missense_Mutation_p.R607S|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		709						extracellular region		p.R709S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTATTTACACGGTCTCTGATC	0.483000													31	76					8.16721e-17	1.44497e-16	0.002096	1	0
CACNB2	783	broad.mit.edu	37	10	18795465	18795465	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr10:18795465C>A	ENST00000396576.2	+	5	995	c.494C>A	c.(493-495)cCt>cAt	p.P165H	CACNB2_ENST00000377315.4_Missense_Mutation_p.P172H|CACNB2_ENST00000324631.7_Missense_Mutation_p.P220H|CACNB2_ENST00000282343.8_Missense_Mutation_p.P192H|CACNB2_ENST00000377319.3_Missense_Mutation_p.P165H|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000352115.6_Missense_Mutation_p.P220H|CACNB2_ENST00000377331.2_Missense_Mutation_p.P192H|CACNB2_ENST00000377329.4_Missense_Mutation_p.P166H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	220	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.P220H(1)|p.P166H(1)|p.P165H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAATCAACACCTCCATCATCT	0.363000													18	28					1.50039e-11	2.4076e-11	0.001882	1	0
RHBDF2	79651	broad.mit.edu	37	17	74473792	74473792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr17:74473792C>A	ENST00000591885.1	-	7	1298	c.748G>T	c.(748-750)Gag>Tag	p.E250*	RHBDF2_ENST00000389760.4_Nonsense_Mutation_p.E250*|RHBDF2_ENST00000313080.4_Nonsense_Mutation_p.E279*			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	279					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.E279*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						ACATCCTCCTCCAGGAAGCTC	0.637000													49	76					9.45407e-15	1.61926e-14	0.003610	1	0
MALAT1	378938	broad.mit.edu	37	11	65269682	65269682	+	RNA	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:65269682G>C	ENST00000534336.1	+	0	4450					NR_002819.2																						CTACTGGGCTGACATTAACTA	0.348000													13	47					0	0	0.004990	0	0
NRIP1	8204	broad.mit.edu	37	21	16339433	16339433	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr21:16339433C>A	ENST00000400202.1	-	3	1793	c.1081G>T	c.(1081-1083)Ggt>Tgt	p.G361C	NRIP1_ENST00000400199.1_Missense_Mutation_p.G361C|NRIP1_ENST00000318948.4_Missense_Mutation_p.G361C			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	361					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	p.G361C(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTCTTATAACCTGCATTTTTA	0.363000													51	100					3.07002e-29	6.10213e-29	0.003610	1	0
PRSS36	146547	broad.mit.edu	37	16	31157117	31157117	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:31157117G>C	ENST00000268281.4	-	6	771	c.713C>G	c.(712-714)aCc>aGc	p.T238S	PRSS36_ENST00000569305.1_Missense_Mutation_p.T238S|PRSS36_ENST00000418068.2_Missense_Mutation_p.T238S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	238	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	p.T238S(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CACCTGGCAGGTGTCCCTGCG	0.577000													33	102					0	0	0.004289	0	0
SENP7	57337	broad.mit.edu	37	3	101090930	101090930	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:101090930T>G	ENST00000394095.2	-	7	771	c.718A>C	c.(718-720)Aag>Cag	p.K240Q	SENP7_ENST00000314261.7_Missense_Mutation_p.K174Q|SENP7_ENST00000394094.2_Missense_Mutation_p.K175Q|SENP7_ENST00000348610.3_Missense_Mutation_p.K207Q|SENP7_ENST00000358203.3_Missense_Mutation_p.K76Q|SENP7_ENST00000394091.1_Missense_Mutation_p.K76Q	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	240					proteolysis	nucleus	cysteine-type peptidase activity	p.K240Q(1)|p.K174Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCAGTCTGCTTTGCAGAATTG	0.373000													5	127					0	0	0.001168	0	0
ATP13A1	57130	broad.mit.edu	37	19	19760641	19760641	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:19760641C>A	ENST00000357324.6	-	18	2470	c.2444G>T	c.(2443-2445)gGc>gTc	p.G815V	ATP13A1_ENST00000291503.5_Missense_Mutation_p.G697V	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	815					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.G815V(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GTGGGCCAAGCCGTCGCCTGT	0.677000													5	41					0.00116845	0.00147352	0.001168	1	0
NARF	26502	broad.mit.edu	37	17	80436742	80436742	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr17:80436742C>T	ENST00000390006.4	+	6	884	c.410C>T	c.(409-411)tCc>tTc	p.S137F	NARF_ENST00000309794.10_Missense_Mutation_p.S196F|NARF_ENST00000412079.2_Missense_Mutation_p.S68F|NARF_ENST00000581743.1_3'UTR|NARF_ENST00000457415.3_Missense_Mutation_p.S196F|NARF_ENST00000345415.7_Missense_Mutation_p.S148F	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	196						lamin filament	lamin binding	p.S196F(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACCGCCAAGTCCCCCCAGCAG	0.627000													14	33					0	0	0.001855	0	0
RIMS2	9699	broad.mit.edu	37	8	104973292	104973292	+	Splice_Site	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:104973292G>C	ENST00000507740.1	+	12	2313		c.e12-1		RIMS2_ENST00000436393.2_Splice_Site|RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.?(5)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTACTTTATAGGGTCAAAGAG	0.294000										HNSCC(12;0.0054)			92	262					0	0	0.003610	0	0
ERCC4	2072	broad.mit.edu	37	16	14029250	14029250	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:14029250G>C	ENST00000311895.7	+	8	1470	c.1461G>C	c.(1459-1461)aaG>aaC	p.K487N	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	487					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	p.K487N(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CCCTCAAAAAGAAAAAACGGA	0.408000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				3	46					0	0	0.000248	0	0
PLCB1	23236	broad.mit.edu	37	20	8698415	8698415	+	Missense_Mutation	SNP	G	G	A	rs146833633		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr20:8698415G>A	ENST00000378641.3	+	14	1908	c.1433G>A	c.(1432-1434)gGc>gAc	p.G478D	PLCB1_ENST00000378637.2_Missense_Mutation_p.G478D|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.G478D	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	478					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.G478D(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GAAGGAAGCGGCAAAAAGAAG	0.478000													4	63					0	0	0.000248	0	0
COL4A1	1282	broad.mit.edu	37	13	110813626	110813626	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr13:110813626T>A	ENST00000375820.4	-	49	4674	c.4553A>T	c.(4552-4554)gAc>gTc	p.D1518V	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1518	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.D1518V(1)|p.D1161V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTACGAGTAGTCATTTCGTGA	0.517000													7	57					0	0	0.003080	0	0
CACNA1B	774	broad.mit.edu	37	9	140809117	140809117	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:140809117G>T	ENST00000371372.1	+	5	779	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V212L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V212L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V212L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.V212L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	212					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.V212L(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTTGCAGGTGGTGCTCAAGTC	0.557000													11	23					1.08611e-07	1.58486e-07	0.000978	1	0
MACF1	23499	broad.mit.edu	37	1	39852909	39852909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:39852909C>T	ENST00000564288.1	+	58	15172	c.14395C>T	c.(14395-14397)Cag>Tag	p.Q4799*	MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q2737*|MACF1_ENST00000372915.3_Nonsense_Mutation_p.Q4804*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q2737*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q3239*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q2716*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q2737*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q4836*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4804					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.Q2737*(1)|p.Q3239*(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGCAGTTCCAGCAAATGTT	0.443000													33	242					0	0	0.003755	0	0
SAMD4A	23034	broad.mit.edu	37	14	55231189	55231189	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:55231189G>T	ENST00000251091.5	+	6	1568	c.1263G>T	c.(1261-1263)ttG>ttT	p.L421F	SAMD4A_ENST00000555192.1_Missense_Mutation_p.L100F|SAMD4A_ENST00000392067.3_Missense_Mutation_p.L509F|SAMD4A_ENST00000554335.1_Missense_Mutation_p.L509F|SAMD4A_ENST00000357634.3_Missense_Mutation_p.L508F	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	509					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.L508F(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CACAGCTCTTGGTCTCCAGAC	0.388000													127	205					1.8369e-69	3.82424e-69	0.003610	1	0
HDAC4	9759	broad.mit.edu	37	2	239988418	239988418	+	Splice_Site	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:239988418C>A	ENST00000345617.3	-	24	3779	c.2988_splice	c.e24+1	p.E996_splice	HDAC4_ENST00000543185.1_Splice_Site_p.E580_splice	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	996	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.E996D(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GTCTTCCTACCTCGTTTCCCA	0.637000													53	126					3.21867e-24	6.21848e-24	0.003610	1	0
CX3CR1	1524	broad.mit.edu	37	3	39307362	39307362	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:39307362T>G	ENST00000541347.1	-	2	878	c.639A>C	c.(637-639)agA>agC	p.R213S	CX3CR1_ENST00000542107.1_Missense_Mutation_p.R213S|CX3CR1_ENST00000399220.2_Missense_Mutation_p.R213S|CX3CR1_ENST00000358309.3_Missense_Mutation_p.R245S	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	213					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.R245S(1)|p.R213S(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TCTGGATGATTCTGAAGTAGC	0.478000													43	101					0	0	0.002222	0	0
AKAP6	9472	broad.mit.edu	37	14	33292102	33292102	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:33292102G>A	ENST00000280979.4	+	13	5253	c.5083G>A	c.(5083-5085)Gac>Aac	p.D1695N	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1695	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.D1695N(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAGCAGCAGTGACGAGCTCTC	0.463000													7	132					0	0	0.003080	0	0
ALPP	250	broad.mit.edu	37	2	233246046	233246046	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:233246046C>T	ENST00000392027.2	+	10	1547	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	426						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.G426G(2)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCAAGGACGGCGCCCGGCCGG	0.697000													6	74					0	0	0.001984	0	0
FBN2	2201	broad.mit.edu	37	5	127713567	127713567	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:127713567A>T	ENST00000508053.1	-	19	2701	c.1727T>A	c.(1726-1728)aTt>aAt	p.I576N	FBN2_ENST00000262464.4_Missense_Mutation_p.I576N|FBN2_ENST00000508989.1_Missense_Mutation_p.I543N			P35556	FBN2_HUMAN	fibrillin 2	576	EGF-like 8; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.I576N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACTCATCAATATCTAGGAA	0.348000													11	180					0	0	0.001855	0	0
CACNB2	783	broad.mit.edu	37	10	18795447	18795447	+	Missense_Mutation	SNP	G	G	C	rs149253719	by1000genomes	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr10:18795447G>C	ENST00000396576.2	+	5	977	c.476G>C	c.(475-477)aGt>aCt	p.S159T	CACNB2_ENST00000377315.4_Missense_Mutation_p.S166T|CACNB2_ENST00000324631.7_Missense_Mutation_p.S214T|CACNB2_ENST00000282343.8_Missense_Mutation_p.S186T|CACNB2_ENST00000377319.3_Missense_Mutation_p.S159T|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000352115.6_Missense_Mutation_p.S214T|CACNB2_ENST00000377331.2_Missense_Mutation_p.S186T|CACNB2_ENST00000377329.4_Missense_Mutation_p.S160T	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	214	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.S160T(1)|p.S159T(1)|p.S214T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATAGTACCTAGTTCCAGAAAA	0.373000													9	43					0	0	0.008291	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102508450	102508450	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:102508450C>T	ENST00000360184.4	+	66	12367	c.12203C>T	c.(12202-12204)tCa>tTa	p.S4068L	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4068	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.S4068L(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGATCACTTCAATTGCAATC	0.542000													24	45					0	0	0.004656	0	0
IGHV3-33	28434	broad.mit.edu	37	14	106815880	106815880	+	RNA	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:106815880C>G	ENST00000390615.2	-	0	272																											GCCACCCACTCCAGCCCCTTG	0.542000													42	26					0	0	0.002852	0	0
KIF5A	3798	broad.mit.edu	37	12	57972080	57972080	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:57972080C>A	ENST00000455537.2	+	23	2767	c.2493C>A	c.(2491-2493)tcC>tcA	p.S831S	KIF5A_ENST00000286452.5_Silent_p.S742S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	831					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.S831S(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGAAGATTTCCTTTCTTGAGA	0.483000													49	105					2.74695e-27	5.39341e-27	0.003610	1	0
PHACTR4	65979	broad.mit.edu	37	1	28818172	28818172	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:28818172G>T	ENST00000373839.3	+	12	2150	c.1889G>T	c.(1888-1890)aGg>aTg	p.R630M	PHACTR4_ENST00000373836.3_Missense_Mutation_p.R640M|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	630							actin binding|protein phosphatase inhibitor activity	p.R640M(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGTCAAAGGCCAACTGTC	0.448000													35	82					1.836e-18	3.30891e-18	0.003755	1	0
NUPR1	26471	broad.mit.edu	37	16	28550162	28550162	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:28550162T>G	ENST00000324873.6	-	1	333	c.67A>C	c.(67-69)Agc>Cgc	p.S23R	NUPR1_ENST00000395641.2_Missense_Mutation_p.S23R	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	23					cell growth|induction of apoptosis	nucleus		p.S23R(1)		breast(1)|large_intestine(1)|lung(1)	3						TCATCCAGGCTGGAGTCCTCG	0.627000													18	56					0	0	0.006122	0	0
DLX2	1746	broad.mit.edu	37	2	172966194	172966194	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:172966194G>T	ENST00000234198.4	-	2	942	c.581C>A	c.(580-582)aCt>aAt	p.T194N	DLX2_ENST00000466293.2_Missense_Mutation_p.T194N	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T194N(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCCCACCTGAGTCTGGGTGAG	0.602000													3	10					6.4e-05	8.46904e-05	0.004672	1	0
BOC	91653	broad.mit.edu	37	3	113002297	113002297	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:113002297C>A	ENST00000495514.1	+	16	3175	c.2471C>A	c.(2470-2472)cCa>cAa	p.P824Q	BOC_ENST00000355385.3_Missense_Mutation_p.P824Q|BOC_ENST00000273395.4_Missense_Mutation_p.P825Q			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	824					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.P824Q(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CTGCCACCCCCAACTCTGGCC	0.557000													66	164					1.37693e-34	2.79436e-34	0.003610	1	0
RNASE13	440163	broad.mit.edu	37	14	21502073	21502073	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:21502073G>T	ENST00000382951.3	-	2	512	c.375C>A	c.(373-375)taC>taA	p.Y125*	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	125						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.Y125*(1)		cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GGGTGCTATTGTAGTAGCAGC	0.498000													21	171					1.55795e-14	2.64961e-14	0.001882	1	0
FAM208B	54906	broad.mit.edu	37	10	5788306	5788306	+	Silent	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr10:5788306A>G	ENST00000328090.5	+	15	3547	c.2922A>G	c.(2920-2922)caA>caG	p.Q974Q		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	974								p.Q974Q(1)									CTGTTACTCAAGCCACATTCA	0.463000													6	85					0	0	0.001168	0	0
INTS5	80789	broad.mit.edu	37	11	62416483	62416483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:62416483C>A	ENST00000330574.2	-	2	1121	c.1069G>T	c.(1069-1071)Gga>Tga	p.G357*		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	357					snRNA processing	integral to membrane|integrator complex	protein binding	p.G357*(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						ACAAGCTCTCCAGAGACAGTG	0.602000													25	56					5.35047e-06	7.3209e-06	0.003330	1	0
NLRP2	55655	broad.mit.edu	37	19	55494060	55494060	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:55494060C>A	ENST00000543010.1	+	6	1137	c.994C>A	c.(994-996)Ctg>Atg	p.L332M	NLRP2_ENST00000427260.2_Missense_Mutation_p.L309M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L310M|NLRP2_ENST00000538819.1_Missense_Mutation_p.L308M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L329M|NLRP2_ENST00000537859.1_Missense_Mutation_p.L310M|NLRP2_ENST00000448584.2_Missense_Mutation_p.L332M|NLRP2_ENST00000391721.4_Missense_Mutation_p.L308M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	332	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.L332M(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAAGGCCGCCCTGCTGGTCAC	0.652000													6	27					0.00116845	0.00147352	0.001168	1	0
TBX5	6910	broad.mit.edu	37	12	114793673	114793673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:114793673G>T	ENST00000310346.4	-	9	1887	c.1221C>A	c.(1219-1221)taC>taA	p.Y407*	TBX5_ENST00000405440.2_Nonsense_Mutation_p.Y407*|TBX5_ENST00000349716.5_Nonsense_Mutation_p.Y357*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	407					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.Y407*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TGCAGCTGCTGTAGGAAGGCA	0.647000													18	52					3.32936e-07	4.7436e-07	0.006122	1	0
COX19	90639	broad.mit.edu	37	7	1012907	1012907	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:1012907T>C	ENST00000344111.3	-	2	193	c.104A>G	c.(103-105)gAg>gGg	p.E35G		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	35	CHCH.					cytosol		p.E35G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		CATGAATTTCTCTTTAAAGCT	0.363000													8	64					0	0	0.003080	0	0
RB1	5925	broad.mit.edu	37	13	48947605	48947605	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr13:48947605G>T	ENST00000267163.4	+	12	1330	c.1192G>T	c.(1192-1194)Gaa>Taa	p.E398*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	398	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.E398L(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCAACCTTCAGAAAATCTGAT	0.284000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			5	197					0.000157383	0.000203797	0.003080	1	0
UGT1A7	54577	broad.mit.edu	37	2	234590853	234590853	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:234590853C>T	ENST00000373426.3	+	1	270	c.270C>T	c.(268-270)ttC>ttT	p.F90F	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2												p.F90F(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACCGGGAGTTCATGGTTTTTG	0.433000													55	139					0	0	0.003610	0	0
IDH1	3417	broad.mit.edu	37	2	209103826	209103826	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:209103826C>A	ENST00000415913.1	-	9	1504	c.1123G>T	c.(1123-1125)Gac>Tac	p.D375Y	IDH1_ENST00000446179.1_Missense_Mutation_p.D375Y|IDH1_ENST00000345146.2_Missense_Mutation_p.D375Y			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	375					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.D375Y(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GCAGCCAAGTCCTTGGTCATG	0.423000			Mis		gliobastoma								19	79					1.78486e-19	3.26549e-19	0.007413	1	0
RPS6KA2	6196	broad.mit.edu	37	6	166872949	166872949	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:166872949G>A	ENST00000510118.1	-	14	1478	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R266W|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.R355W|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R266W|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R363W			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	355	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|magnesium ion binding|protein serine/threonine kinase activity	p.R363W(1)|p.R355W(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GTGGGCGTCCGCGCTGTGAAC	0.552000													4	20					0	0	0.000248	0	0
ADORA3	140	broad.mit.edu	37	1	112028429	112028429	+	Silent	SNP	C	C	T	rs138501072		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:112028429C>T	ENST00000369716.4	-	5	1039	c.906G>A	c.(904-906)acG>acA	p.T302T	ADORA3_ENST00000369717.4_Silent_p.T221T	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.T302T(1)|p.T221T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TTCCCAAACCCGTGATCAGTA	0.448000													13	57					0	0	0.004007	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													8	66					0	0	0.008291	0	0
MRGBP	55257	broad.mit.edu	37	20	61430850	61430850	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr20:61430850C>G	ENST00000370487.3	+	5	541	c.470C>G	c.(469-471)tCc>tGc	p.S157C		NM_018270.4	NP_060740.1			MRG/MORF4L binding protein									p.S157C(1)									TCAGAAAAATCCAGCAAAGAC	0.453000													9	170					0	0	0.004482	0	0
MGAM	8972	broad.mit.edu	37	7	141738391	141738391	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:141738391C>A	ENST00000475668.2	+	19	2346	c.2292C>A	c.(2290-2292)ctC>ctA	p.L764L	MGAM_ENST00000549489.2_Silent_p.L764L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	764	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.L764L(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGCCCGGCCTCCTCATCACTC	0.498000													8	22					0.00307968	0.00383372	0.003080	1	0
ANKRD26	22852	broad.mit.edu	37	10	27375513	27375513	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr10:27375513T>G	ENST00000376087.4	-	5	829	c.664A>C	c.(664-666)Aaa>Caa	p.K222Q	ANKRD26_ENST00000436985.2_Missense_Mutation_p.K222Q	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	222						centrosome		p.K222Q(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTTTCTTCTTTATATTCTGAA	0.264000													36	121					0	0	0.006999	0	0
MUC7	4589	broad.mit.edu	37	4	71347156	71347156	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr4:71347156C>A	ENST00000413702.1	+	4	983	c.695C>A	c.(694-696)cCa>cAa	p.P232Q	MUC7_ENST00000304887.5_Missense_Mutation_p.P232Q|MUC7_ENST00000456088.1_Missense_Mutation_p.P232Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	232	Thr-rich.					extracellular region	protein binding	p.P232Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCAGCTCCACCAGAGACCACA	0.587000													66	114					1.63498e-16	2.87162e-16	0.003610	1	0
OR2L3	391192	broad.mit.edu	37	1	248224863	248224863	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:248224863A>C	ENST00000359959.3	+	1	880	c.880A>C	c.(880-882)Aag>Cag	p.K294Q	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K294Q(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTGAGGAACAAGGAGGTGAT	0.498000													27	79					0	0	0.006320	0	0
CD1D	912	broad.mit.edu	37	1	158152851	158152851	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:158152851G>T	ENST00000368171.3	+	5	1290	c.791G>T	c.(790-792)cGa>cTa	p.R264L		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	264	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.R264L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGGTATCTCCGAGCAACCCTG	0.617000													49	95					4.86159e-25	9.43032e-25	0.003610	1	0
SLCO1A2	6579	broad.mit.edu	37	12	21471751	21471751	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:21471751G>C	ENST00000307378.6	-	4	887	c.167C>G	c.(166-168)tCt>tGt	p.S56C	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.S54C|SLCO1A2_ENST00000537524.1_De_novo_Start_InFrame|SLCO1A2_ENST00000473830.1_5'UTR|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.S56C|SLCO1A2_ENST00000458504.1_Intron	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	56					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S56C(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TCCAACTAGAGATGTTGGGAT	0.338000													37	90					0	0	0.006230	0	0
ODF1	4956	broad.mit.edu	37	8	103572936	103572936	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:103572936G>T	ENST00000285402.3	+	2	733	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	193					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	p.G193C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CTATGGGCTCGGCAGCTGTGT	0.562000													21	84					1.2644e-06	1.75491e-06	0.001523	1	0
REST	5978	broad.mit.edu	37	4	57777171	57777171	+	Missense_Mutation	SNP	C	C	G	rs149829250	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr4:57777171C>G	ENST00000309042.7	+	2	681	c.367C>G	c.(367-369)Cct>Gct	p.P123A		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	123					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.P123A(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGAACCTCAGCCTGTATTTGA	0.463000													18	60					0	0	0.008871	0	0
SASS6	163786	broad.mit.edu	37	1	100572478	100572478	+	Silent	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:100572478A>G	ENST00000287482.5	-	12	1538	c.1398T>C	c.(1396-1398)aaT>aaC	p.N466N	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Silent_p.N299N	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	466					centriole replication	centriole		p.N466N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ACTTTTCATTATTTTTTAGAA	0.308000													5	26					0	0	0.001168	0	0
CYC1	1537	broad.mit.edu	37	8	145151255	145151255	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:145151255G>A	ENST00000318911.4	+	4	542	c.469G>A	c.(469-471)Ggc>Agc	p.G157S		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	157	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	p.G157S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTTCAAGACGGCCCCAATGA	0.587000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	283					0	0	0.005524	0	0
NUP155	9631	broad.mit.edu	37	5	37299057	37299057	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:37299057T>C	ENST00000231498.3	-	32	3909	c.3706A>G	c.(3706-3708)Agc>Ggc	p.S1236G	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.S1177G|NUP155_ENST00000513532.1_Missense_Mutation_p.S1172G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1236					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.S1236G(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCGAGGAGCTCAATGTCACA	0.368000													3	46					0	0	0.000602	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550609	8550609	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:8550609G>A	ENST00000348943.3	+	15	1412	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	HNRNPM_ENST00000325495.4_Missense_Mutation_p.E433K	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	433	Poly-Gly.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	p.E433K(1)|p.E433Q(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CGTGGGCTCCGAGATCGAGCG	0.706000													12	131					0	0	0.000978	0	0
LGMN	5641	broad.mit.edu	37	14	93199091	93199091	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:93199091C>A	ENST00000393218.2	-	3	378	c.41G>T	c.(40-42)gGc>gTc	p.G14V	LGMN_ENST00000557434.1_Missense_Mutation_p.G14V|LGMN_ENST00000555699.1_Missense_Mutation_p.G14V|LGMN_ENST00000334869.4_Missense_Mutation_p.G14V	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	14					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	p.G14V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GGCACCAATGCCCAGGGCCAC	0.483000													32	121					1.06801e-11	1.73687e-11	0.001786	1	0
TNMD	64102	broad.mit.edu	37	X	99854659	99854659	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chrX:99854659G>T	ENST00000373031.4	+	7	1116	c.899G>T	c.(898-900)tGt>tTt	p.C300F		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	300						integral to membrane		p.C300F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CGAGTCATCTGTCGTGTCATC	0.507000													13	8					5.50884e-06	7.43231e-06	0.001368	1	0
IGLL5	100423062	broad.mit.edu	37	22	23237608	23237608	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr22:23237608C>T	ENST00000532223.1	+	3	656	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F	IGLL5_ENST00000531372.1_3'UTR|IGLC1_ENST00000390321.2_RNA|IGLL5_ENST00000526893.1_Missense_Mutation_p.L127F			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	127	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular region		p.L127F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CTCTGAGGAGCTCCAAGCCAA	0.617000													11	27					0	0	0.000978	0	0
OR11L1	391189	broad.mit.edu	37	1	248005039	248005039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:248005039G>A	ENST00000355784.2	-	1	215	c.160C>T	c.(160-162)Cga>Tga	p.R54*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R54*(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGTGCAGTCGCAGGCCCTGG	0.537000													6	24					0	0	0.001168	0	0
AFG3L2	10939	broad.mit.edu	37	18	12356752	12356752	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr18:12356752A>G	ENST00000269143.3	-	9	1336	c.1105T>C	c.(1105-1107)Ttc>Ctc	p.F369L		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	369					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.F369L(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ACGGTGATGAAGGGGACATTG	0.512000													3	67					0	0	0.004672	0	0
PMS1	5378	broad.mit.edu	37	2	190738322	190738322	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:190738322A>T	ENST00000441310.2	+	12	2807	c.2574A>T	c.(2572-2574)ttA>ttT	p.L858F	PMS1_ENST00000409823.3_Missense_Mutation_p.L819F|PMS1_ENST00000418224.3_Missense_Mutation_p.L682F|PMS1_ENST00000432292.3_Missense_Mutation_p.L682F|PMS1_ENST00000447232.2_Missense_Mutation_p.L696F	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	858					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.L858F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ATGCTATATTAAACAGAAATG	0.303000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					38	77					0	0	0.005524	0	0
RB1	5925	broad.mit.edu	37	13	48947606	48947606	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr13:48947606A>T	ENST00000267163.4	+	12	1331	c.1193A>T	c.(1192-1194)gAa>gTa	p.E398V		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	398	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.E398L(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAACCTTCAGAAAATCTGATT	0.289000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			5	195					0	0	0.003080	0	0
ABHD2	11057	broad.mit.edu	37	15	89698682	89698682	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr15:89698682A>G	ENST00000352732.5	+	5	975	c.455A>G	c.(454-456)aAa>aGa	p.K152R	ABHD2_ENST00000565973.1_Missense_Mutation_p.K152R|ABHD2_ENST00000355100.3_Missense_Mutation_p.K152R	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	152						integral to membrane	carboxylesterase activity	p.K152R(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TACGCCCAGAAAAATGGCTAT	0.507000													18	113					0	0	0.006122	0	0
KLHDC4	54758	broad.mit.edu	37	16	87743082	87743082	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:87743082C>A	ENST00000270583.5	-	10	1294	c.1236G>T	c.(1234-1236)cgG>cgT	p.R412R	KLHDC4_ENST00000347925.5_Silent_p.R381R|KLHDC4_ENST00000353170.5_Silent_p.R355R|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	412								p.R412R(1)		breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CGTCCTCAGACCGGGGCTGCC	0.682000													7	15					0.000274275	0.000352327	0.004482	1	0
GPR35	2859	broad.mit.edu	37	2	241569993	241569993	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:241569993G>A	ENST00000319838.5	+	6	1566	c.624G>A	c.(622-624)caG>caA	p.Q208Q	GPR35_ENST00000438013.2_Silent_p.Q239Q|GPR35_ENST00000403859.1_Silent_p.Q208Q|GPR35_ENST00000407714.1_Silent_p.Q208Q|GPR35_ENST00000430267.1_Silent_p.Q208Q	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	208						integral to plasma membrane	G-protein coupled receptor activity	p.Q208Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACGTGGGGCAGGCAGAGGCCA	0.687000													21	28					0	0	0.001523	0	0
DNA2	1763	broad.mit.edu	37	10	70202766	70202766	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr10:70202766G>A	ENST00000399180.2	-	9	1580	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	DNA2_ENST00000358410.3_Silent_p.F441F|DNA2_ENST00000399179.2_Silent_p.F441F			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	441					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	p.F527F(1)|p.F441F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ACCAAAGGCTGAAATATTCTA	0.398000													9	24					0	0	0.004482	0	0
FAM19A3	284467	broad.mit.edu	37	1	113269262	113269262	+	Nonstop_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:113269262G>T	ENST00000361886.3	+	5	461	c.402G>T	c.(400-402)taG>taT	p.*134Y	FAM19A3_ENST00000369630.3_Missense_Mutation_p.S157I	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region		p.S157I(1)		lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCACACGATAGCTCTTGGGGG	0.502000													15	43					6.31663e-08	9.38748e-08	0.003163	1	0
KLHL1	57626	broad.mit.edu	37	13	70456453	70456453	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr13:70456453G>A	ENST00000377844.4	-	5	1948	c.1189C>T	c.(1189-1191)Ctt>Ttt	p.L397F	KLHL1_ENST00000545028.1_Missense_Mutation_p.L204F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	397					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.L397F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGGCAAGAAGCATGCTCAGG	0.398000													5	94					0	0	0.001168	0	0
WDR52	55779	broad.mit.edu	37	3	113119471	113119471	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:113119471G>T	ENST00000393845.2	-	12	1461	c.1395C>A	c.(1393-1395)ctC>ctA	p.L465L	WDR52_ENST00000295868.2_Silent_p.L465L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	465								p.L465L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GGAAGGAGAAGAGGCATTCTG	0.408000													7	77					0.00307968	0.00383372	0.003080	1	0
MDH1B	130752	broad.mit.edu	37	2	207621721	207621721	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:207621721A>C	ENST00000374412.3	-	4	589	c.314T>G	c.(313-315)aTg>aGg	p.M105R	MDH1B_ENST00000392214.2_Missense_Mutation_p.M105R|MDH1B_ENST00000449792.1_Missense_Mutation_p.M7R|MDH1B_ENST00000454776.2_Missense_Mutation_p.M105R	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	105					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	p.M105R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AGCAATTACCATCATCAGTTC	0.418000													14	53					0	0	0.004007	0	0
FAM57B	83723	broad.mit.edu	37	16	30041831	30041831	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:30041831C>A	ENST00000380495.4	-	1	749	c.18G>T	c.(16-18)gtG>gtT	p.V6V		NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	6						endoplasmic reticulum|integral to membrane		p.V6V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCCCCCCGGCCACCATCGGGG	0.672000													14	22					7.93312e-07	1.10743e-06	0.002450	1	0
DAB2	1601	broad.mit.edu	37	5	39383196	39383196	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:39383196T>A	ENST00000545653.1	-	9	1332	c.802A>T	c.(802-804)Acc>Tcc	p.T268S	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Missense_Mutation_p.T289S|DAB2_ENST00000509337.1_Missense_Mutation_p.T268S	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	289					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.T289S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGATTAGGGGTGGGAAAGAAG	0.473000													47	160					0	0	0.003610	0	0
COL28A1	340267	broad.mit.edu	37	7	7480482	7480482	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:7480482C>A	ENST00000399429.3	-	21	1801	c.1661G>T	c.(1660-1662)gGc>gTc	p.G554V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	554	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.G554V(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCCTTTCTTGCCTTCGTCACC	0.443000													15	50					4.7546e-09	7.36049e-09	0.004007	1	0
SYCE1	93426	broad.mit.edu	37	10	135367822	135367822	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr10:135367822G>T	ENST00000368517.3	-	13	959	c.821C>A	c.(820-822)cCa>cAa	p.P274Q	SYCE1_ENST00000432597.2_Missense_Mutation_p.P274Q|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	311	Gln-rich.				cell division	central element		p.P274Q(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGGTCTACCTGGTCTGGGAGC	0.468000													25	71					1.5548e-18	2.81262e-18	0.005443	1	0
HMMR	3161	broad.mit.edu	37	5	162896811	162896811	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:162896811G>T	ENST00000416990.2	+	5	590	c.93G>T	c.(91-93)agG>agT	p.R31S	HMMR_ENST00000432118.2_Missense_Mutation_p.R59S|HMMR_ENST00000353866.3_Missense_Mutation_p.R130S|HMMR_ENST00000393915.4_Missense_Mutation_p.R146S|HMMR_ENST00000358715.3_Missense_Mutation_p.R145S			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	145						cell surface|cytoplasm	hyaluronic acid binding	p.R145S(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AATTGACCAGGACTAATGAAC	0.373000													19	22					3.85864e-22	7.28017e-22	0.002780	1	0
UNC79	57578	broad.mit.edu	37	14	94048570	94048570	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:94048570G>C	ENST00000553484.1	+	20	2837	c.2683G>C	c.(2683-2685)Gat>Cat	p.D895H	UNC79_ENST00000555664.1_Missense_Mutation_p.D895H|UNC79_ENST00000256339.4_Missense_Mutation_p.D718H|UNC79_ENST00000393151.2_Missense_Mutation_p.D895H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	895						integral to membrane		p.D718H(1)|p.D895H(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAGCCTGGAGGATAGCCTCCT	0.562000													3	108					0	0	0.004672	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529975	80529975	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:80529975C>A	ENST00000295057.3	-	2	1626	c.970G>T	c.(970-972)Gcc>Tcc	p.A324S	CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.A324S|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	324	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.A324S(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GAGGCTAGGGCACACACGTTG	0.642000										HNSCC(69;0.2)			4	24					1.024e-07	1.51715e-07	0.000602	1	0
ZNF697	90874	broad.mit.edu	37	1	120166700	120166700	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:120166700C>G	ENST00000421812.2	-	3	385	c.266G>C	c.(265-267)gGg>gCg	p.G89A		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G89A(1)|p.G21R(1)		ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		ATCCTCTTCCCCACGGACAGA	0.547000													4	21					0	0	0.000602	0	0
SART1	9092	broad.mit.edu	37	11	65743992	65743992	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:65743992C>G	ENST00000312397.5	+	13	1791	c.1699C>G	c.(1699-1701)Ccc>Gcc	p.P567A		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	567					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		p.P567A(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGGGAGATCCCCACCTACGG	0.697000													8	32					0	0	0.000978	0	0
CSPP1	79848	broad.mit.edu	37	8	68031019	68031019	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:68031019A>G	ENST00000262210.5	+	13	1676	c.1645A>G	c.(1645-1647)Agt>Ggt	p.S549G	CSPP1_ENST00000412460.1_Missense_Mutation_p.S255G	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	584						centrosome|microtubule|spindle		p.S549G(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGCTTATGTTAGTGCTCCTGT	0.308000													11	97					0	0	0.003163	0	0
DCPS	28960	broad.mit.edu	37	11	126215396	126215396	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:126215396T>C	ENST00000263579.4	+	6	1231	c.902T>C	c.(901-903)gTg>gCg	p.V301A	DCPS_ENST00000530860.1_3'UTR	NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	301					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	p.V301A(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		CTGGCTGAGGTGATCGAGAAC	0.652000													19	108					0	0	0.008871	0	0
BRD7	29117	broad.mit.edu	37	16	50388360	50388360	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:50388360T>C	ENST00000394688.3	-	4	581	c.422A>G	c.(421-423)aAt>aGt	p.N141S	BRD7_ENST00000394689.2_Missense_Mutation_p.N141S|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	141					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.N141S(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				CATCAGTTGATTCAAAGCTTC	0.328000													31	328					0	0	0.008361	0	0
PRMT2	3275	broad.mit.edu	37	21	48064292	48064292	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr21:48064292G>T	ENST00000397637.1	+	4	1173	c.219G>T	c.(217-219)gcG>gcT	p.A73A	PRMT2_ENST00000355680.3_Silent_p.A73A|PRMT2_ENST00000440086.1_Silent_p.A73A|PRMT2_ENST00000451211.2_Silent_p.A73A|PRMT2_ENST00000458387.2_Silent_p.A73A|PRMT2_ENST00000397638.2_Silent_p.A73A|PRMT2_ENST00000291705.6_Silent_p.A73A|PRMT2_ENST00000397628.1_Silent_p.A73A|PRMT2_ENST00000334494.4_Silent_p.A73A			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	73	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	p.A73A(2)		NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GTGAGCGTGCGGGCTGCTGTG	0.488000													54	67					9.22156e-22	1.73308e-21	0.003610	1	0
TMEM252	169693	broad.mit.edu	37	9	71152351	71152351	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:71152351G>T	ENST00000377311.3	-	2	389	c.337C>A	c.(337-339)Cct>Act	p.P113T		NM_153237.1	NP_694969.1			transmembrane protein 252									p.P113T(1)									CTCTCTGCAGGACAGCTCTGC	0.527000													15	60					1.99824e-07	2.88966e-07	0.004990	1	0
BAI3	577	broad.mit.edu	37	6	69728293	69728293	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:69728293G>A	ENST00000370598.1	+	13	2830	c.2009G>A	c.(2008-2010)gGg>gAg	p.G670E		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	670					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G670E(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTTATCCAGGGTCAATAGAG	0.303000													7	108					0	0	0.003080	0	0
SPSB2	84727	broad.mit.edu	37	12	6981812	6981812	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:6981812G>T	ENST00000519357.1	-	2	440	c.254C>A	c.(253-255)tCa>tAa	p.S85*	SPSB2_ENST00000523102.1_Nonsense_Mutation_p.S85*|SPSB2_ENST00000524270.1_Nonsense_Mutation_p.S85*			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	85	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding	p.S85*(1)		kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CAGGCCCCTTGAATAGCCCCT	0.662000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	31					1.10513e-12	1.81558e-12	0.002299	1	0
MYT1L	23040	broad.mit.edu	37	2	1893159	1893159	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:1893159G>T	ENST00000399161.2	-	16	3121	c.2374C>A	c.(2374-2376)Cct>Act	p.P792T	MYT1L_ENST00000428368.2_Missense_Mutation_p.P790T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	792					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P792T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCTCCAGAGGGGTCAGGATG	0.622000													25	74					1.64293e-13	2.73633e-13	0.003330	1	0
LPPR1	54886	broad.mit.edu	37	9	104071741	104071741	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:104071741A>G	ENST00000374874.3	+	5	1073	c.634A>G	c.(634-636)Acg>Gcg	p.T212A	LPPR1_ENST00000395056.2_Missense_Mutation_p.T212A	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		212						integral to membrane	catalytic activity	p.T212A(1)									CTTATATGCCACGGTGAGTGT	0.483000													16	52					0	0	0.007413	0	0
OR5K3	403277	broad.mit.edu	37	3	98109910	98109910	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:98109910C>A	ENST00000383695.1	+	1	401	c.401C>A	c.(400-402)aCc>aAc	p.T134N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T134N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CAGTACCACACCATGATGTCC	0.468000													54	138					5.57489e-27	1.09015e-26	0.003610	1	0
FAT4	79633	broad.mit.edu	37	4	126372404	126372404	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr4:126372404G>T	ENST00000394329.3	+	9	10246	c.10233G>T	c.(10231-10233)gtG>gtT	p.V3411V	FAT4_ENST00000335110.5_Silent_p.V1709V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3411	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V3411V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTACAGTGTGCAGATCAGTG	0.463000													14	192					4.36969e-10	6.91987e-10	0.001855	1	0
CLK2	1196	broad.mit.edu	37	1	155237843	155237843	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:155237843T>C	ENST00000368361.4	-	6	944	c.629A>G	c.(628-630)aAc>aGc	p.N210S	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.N208S|CLK2_ENST00000361168.5_Missense_Mutation_p.N209S|CLK2_ENST00000536801.1_Missense_Mutation_p.N210S			P49760	CLK2_HUMAN	CDC-like kinase 2	210	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N210S(1)		endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCTAGCACGTTGATCTCAAG	0.498000								Other conserved DNA damage response genes					85	125					0	0	0.003610	0	0
FAM71E1	112703	broad.mit.edu	37	19	50979147	50979147	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:50979147C>T	ENST00000600100.1	-	2	667	c.303G>A	c.(301-303)caG>caA	p.Q101Q	FAM71E1_ENST00000595790.1_Silent_p.Q101Q			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	101								p.Q101Q(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		ATTCGCCGCTCTGGAGGTAGC	0.627000													11	9					0	0	0.001855	0	0
ZNF202	7753	broad.mit.edu	37	11	123597329	123597329	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:123597329G>A	ENST00000336139.4	-	8	1685	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	ZNF202_ENST00000530393.1_Silent_p.A441A|ZNF202_ENST00000529691.1_Silent_p.A441A			O95125	ZN202_HUMAN	zinc finger protein 202	441					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A441A(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TTTGGTGCCTGGCAAGATGTG	0.468000													47	96					0	0	0.003610	0	0
ANO6	196527	broad.mit.edu	37	12	45781954	45781954	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:45781954T>A	ENST00000320560.8	+	11	1378	c.1176T>A	c.(1174-1176)ttT>ttA	p.F392L	ANO6_ENST00000441606.2_Missense_Mutation_p.F374L|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.F392L|ANO6_ENST00000423947.3_Missense_Mutation_p.F413L|ANO6_ENST00000435642.1_Missense_Mutation_p.F392L	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	392					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.F392L(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTACCTTGTTTTTGGAGTTTT	0.398000													7	136					0	0	0.004482	0	0
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:78790192C>G	ENST00000376767.3	+	14	2559	c.2047C>G	c.(2047-2049)Cga>Gga	p.R683G	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373000													3	12					0	0	0.004672	0	0
UMPS	7372	broad.mit.edu	37	3	124462773	124462773	+	Missense_Mutation	SNP	G	G	A	rs121917891		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:124462773G>A	ENST00000232607.2	+	6	1391	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	UMPS_ENST00000536109.1_Missense_Mutation_p.G337S|UMPS_ENST00000538242.1_Missense_Mutation_p.G251S|UMPS_ENST00000413078.2_Missense_Mutation_p.G154S	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	429	OMPdecase.		G -> R (in ORAC1).		'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	p.G429S(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		AGATAATCTTGGCCAACAGTA	0.398000													28	59					0	0	0.001786	0	0
CADM1	23705	broad.mit.edu	37	11	115049441	115049441	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:115049441C>A	ENST00000542447.2	-	8	1177	c.1049G>T	c.(1048-1050)gGt>gTt	p.G350V	CADM1_ENST00000331581.6_Missense_Mutation_p.G407V|CADM1_ENST00000537058.1_Missense_Mutation_p.G389V|CADM1_ENST00000452722.2_Missense_Mutation_p.G378V|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.G379V	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	378				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.G378V(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CACGACGCCACCGATCACGGC	0.512000													10	131					7.48243e-07	1.04754e-06	0.006214	1	0
USP47	55031	broad.mit.edu	37	11	11976665	11976665	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:11976665G>T	ENST00000339865.5	+	26	4406	c.3643G>T	c.(3643-3645)Gtc>Ttc	p.V1215F	USP47_ENST00000399455.2_Missense_Mutation_p.V1303F|USP47_ENST00000539466.1_Missense_Mutation_p.V85F|USP47_ENST00000305481.6_3'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.V1283F	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1303					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	p.V1215F(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TACCCTGAATGTCTGGCCTCT	0.358000													46	101					2.56662e-36	5.25286e-36	0.003214	1	0
AMBRA1	55626	broad.mit.edu	37	11	46455071	46455071	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:46455071G>A	ENST00000458649.2	-	14	3347	c.2929C>T	c.(2929-2931)Cag>Tag	p.Q977*	AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q917*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q858*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q917*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q948*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q887*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q948*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	977					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		p.Q977*(1)|p.Q887*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTGAAGACCTGGGCCACCATG	0.582000													8	20					0	0	0.003080	0	0
PDE6A	5145	broad.mit.edu	37	5	149240474	149240474	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:149240474G>T	ENST00000255266.5	-	22	2686	c.2567C>A	c.(2566-2568)tCc>tAc	p.S856Y		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	856					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.S856Y(1)|p.S856C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GATGCAGCAGGACTTGGATGT	0.562000													9	24					1.08611e-07	1.58486e-07	0.000978	1	0
CRYGS	1427	broad.mit.edu	37	3	186257351	186257351	+	Silent	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:186257351A>T	ENST00000392499.2	-	3	396	c.57T>A	c.(55-57)cgT>cgA	p.R19R	CRYGS_ENST00000307944.5_Silent_p.R19R	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	19	Beta/gamma crystallin 'Greek key' 1.						structural constituent of eye lens	p.R19R(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		AGTCATAGCGACGGCCTTGAA	0.443000													24	40					0	0	0.003954	0	0
URI1	8725	broad.mit.edu	37	19	30498451	30498451	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:30498451G>C	ENST00000392271.1	+	7	889	c.364G>C	c.(364-366)Gat>Cat	p.D122H	URI1_ENST00000542441.2_Missense_Mutation_p.D198H|URI1_ENST00000312051.6_Missense_Mutation_p.D158H|URI1_ENST00000360605.4_Missense_Mutation_p.D180H|URI1_ENST00000574176.1_3'UTR	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	198					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	p.D198H(1)									TATTGCAAATGATGTGAAATC	0.383000													6	36					0	0	0.001168	0	0
PCDH10	57575	broad.mit.edu	37	4	134071514	134071514	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr4:134071514G>T	ENST00000264360.4	+	1	1045	c.219G>T	c.(217-219)ctG>ctT	p.L73L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	73	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L73L(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAGGGGTGCTGTACGTGAACG	0.542000													7	112					0.00307968	0.00383372	0.003080	1	0
SAMD9	54809	broad.mit.edu	37	7	92730825	92730825	+	Missense_Mutation	SNP	C	C	A	rs149966534		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:92730825C>A	ENST00000379958.2	-	3	4855	c.4586G>T	c.(4585-4587)cGt>cTt	p.R1529L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1529						cytoplasm		p.R1529L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCTTGTAAACGAAGCAAAAG	0.368000													19	60					3.32936e-07	4.7436e-07	0.006122	1	0
WDR54	84058	broad.mit.edu	37	2	74650614	74650614	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:74650614T>G	ENST00000348227.4	+	5	450	c.362T>G	c.(361-363)gTg>gGg	p.V121G	WDR54_ENST00000409791.1_Missense_Mutation_p.V69G|WDR54_ENST00000461531.1_3'UTR	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	121								p.V121G(1)		breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GTACAGGCTGTGTTTGCCCGG	0.587000													23	62					0	0	0.005443	0	0
PGK2	5232	broad.mit.edu	37	6	49753968	49753968	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:49753968C>A	ENST00000304801.3	-	1	1085	c.933G>T	c.(931-933)tgG>tgT	p.W311C		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	311					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.W311C(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCAAACCCATCCAGCCAGGAG	0.453000													111	122					8.62921e-31	1.72228e-30	0.003610	1	0
TUBA3C	7278	broad.mit.edu	37	13	19751729	19751729	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr13:19751729G>T	ENST00000400113.3	-	4	498	c.394C>A	c.(394-396)Ctg>Atg	p.L132M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	132					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.L132M(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AAGCCCTGCAGTCCCGTGCAC	0.582000													15	52					1.49906e-05	1.98914e-05	0.002450	1	0
A2M	2	broad.mit.edu	37	12	9231857	9231857	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:9231857C>A	ENST00000318602.7	-	25	3409	c.3102G>T	c.(3100-3102)agG>agT	p.R1034S	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1034					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.R1034S(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGCCCTGGTTCCTGCCATATC	0.423000													20	61					5.26018e-13	8.70091e-13	0.001882	1	0
ARHGAP11A	9824	broad.mit.edu	37	15	32915737	32915737	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr15:32915737C>A	ENST00000361627.3	+	3	967	c.245C>A	c.(244-246)aCc>aAc	p.T82N	ARHGAP11A_ENST00000565905.1_5'UTR|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.T82N|ARHGAP11A_ENST00000543522.1_5'UTR|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.T82N	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	82	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.T82N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CATATTCATACCGAAGGGCTT	0.378000													5	74					0.000157383	0.000203797	0.003080	1	0
RELN	5649	broad.mit.edu	37	7	103206713	103206713	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:103206713A>T	ENST00000428762.1	-	33	5053	c.4894T>A	c.(4894-4896)Tgt>Agt	p.C1632S	RELN_ENST00000343529.5_Missense_Mutation_p.C1632S|RELN_ENST00000424685.2_Missense_Mutation_p.C1632S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1632					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.C1632S(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATAGAGAGACAGTCAATATCA	0.363000													15	58					0	0	0.006122	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018234	103018234	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:103018234C>T	ENST00000306312.3	-	18	2059	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	SLC26A5_ENST00000339444.6_Missense_Mutation_p.D600N|SLC26A5_ENST00000393727.1_Missense_Mutation_p.D602N|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.D563N|SLC26A5_ENST00000393730.1_Missense_Mutation_p.D568N|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.D33N|SLC26A5_ENST00000432958.2_Missense_Mutation_p.D568N|SLC26A5_ENST00000393723.1_Missense_Mutation_p.D570N	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	600	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.D600N(2)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCCTCTCCATCTACTTCTGCA	0.363000													21	72					0	0	0.002299	0	0
KLHL21	9903	broad.mit.edu	37	1	6655584	6655584	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:6655584C>A	ENST00000377663.3	-	3	1644	c.1461G>T	c.(1459-1461)ccG>ccT	p.P487P	KLHL21_ENST00000467612.1_Silent_p.P120P|KLHL21_ENST00000463043.1_Silent_p.P120P|KLHL21_ENST00000377658.4_Silent_p.P487P			Q9UJP4	KLH21_HUMAN	kelch-like family member 21	487					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule		p.P487P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CGTTCCTCGTCGGGTTGTACA	0.567000													11	33					2.32078e-09	3.61593e-09	0.003163	1	0
PBDC1	51260	broad.mit.edu	37	X	75396788	75396788	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chrX:75396788G>T	ENST00000373358.3	+	5	573	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	PBDC1_ENST00000373357.3_Intron	NM_016500.3	NP_057584.2			polysaccharide biosynthesis domain containing 1									p.D124Y(1)									GCTGCGACTAGATTGTTCTCA	0.423000													29	23					3.90053e-15	6.72841e-15	0.002445	1	0
BCL2A1	597	broad.mit.edu	37	15	80260011	80260011	+	Silent	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr15:80260011A>T	ENST00000335661.6	-	2	493	c.444T>A	c.(442-444)ccT>ccA	p.P148P	BCL2A1_ENST00000267953.3_Intron	NM_001114735.1	NP_001108207.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	0					anti-apoptosis|apoptosis	cytoplasm	protein binding	p.P148P(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						CTACCAGCATAGGTGTGTGAT	0.358000													11	37					0	0	0.001855	0	0
ACAD8	27034	broad.mit.edu	37	11	134131719	134131719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:134131719G>T	ENST00000281182.4	+	9	1133	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	ACAD8_ENST00000374752.4_Nonsense_Mutation_p.E216*|ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000537423.1_Nonsense_Mutation_p.E266*	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	343					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	p.E343*(1)|p.E343K(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		TCTGCAGGAGGAGAGGAAGGA	0.567000													16	31					2.62699e-14	4.42103e-14	0.003163	1	0
UIMC1	51720	broad.mit.edu	37	5	176332314	176332314	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:176332314T>A	ENST00000377219.2	-	15	2298	c.2132A>T	c.(2131-2133)aAa>aTa	p.K711I	UIMC1_ENST00000506128.1_Missense_Mutation_p.K544I|UIMC1_ENST00000511320.1_Missense_Mutation_p.K710I|UIMC1_ENST00000377227.4_Missense_Mutation_p.K710I	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	710					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	p.K710I(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGCCAGCTTTGGTCCGTGT	0.448000													9	95					0	0	0.001368	0	0
F13A1	2162	broad.mit.edu	37	6	6196057	6196057	+	Silent	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:6196057T>C	ENST00000264870.3	-	10	1543	c.1278A>G	c.(1276-1278)caA>caG	p.Q426Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	426					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.Q426Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GTGCATCAAATTGGAAGCAGA	0.493000													4	76					0	0	0.000602	0	0
MSL2	55167	broad.mit.edu	37	3	135870109	135870109	+	Missense_Mutation	SNP	G	G	T	rs138536154	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:135870109G>T	ENST00000309993.2	-	2	2346	c.1614C>A	c.(1612-1614)aaC>aaA	p.N538K	MSL2_ENST00000434835.2_Missense_Mutation_p.N464K	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	538					histone H4-K16 acetylation	MSL complex	zinc ion binding	p.N538K(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGTACTAGCGTTACGCACAG	0.483000													7	79					8.12818e-05	0.000106973	0.001984	1	0
DSC3	1825	broad.mit.edu	37	18	28574418	28574418	+	Splice_Site	SNP	A	A	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr18:28574418A>C	ENST00000434452.1	-	16	2691		c.e16+1		DSC3_ENST00000360428.4_Intron	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3						homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			atttttatttaCCTTTTATGT	0.254000													7	35					0	0	0.004007	0	0
RAD23B	5887	broad.mit.edu	37	9	110068802	110068802	+	Missense_Mutation	SNP	C	C	A	rs111972101		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:110068802C>A	ENST00000358015.3	+	4	722	c.371C>A	c.(370-372)gCa>gAa	p.A124E	RAD23B_ENST00000416373.2_Missense_Mutation_p.A52E	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	124					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	p.A124E(1)		breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TCCACACCTGCATCCATCACT	0.567000								Direct reversal of damage;Nucleotide excision repair (NER)					11	91					5.50884e-06	7.43231e-06	0.001368	1	0
LRRC32	2615	broad.mit.edu	37	11	76371671	76371671	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:76371671C>G	ENST00000407242.2	-	3	1208	c.966G>C	c.(964-966)ttG>ttC	p.L322F	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.L322F|LRRC32_ENST00000404995.1_Missense_Mutation_p.L322F	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	322						integral to plasma membrane		p.L322F(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CATTGTAGCTCAAATCCAGAT	0.597000													22	45					0	0	0.002299	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502877	140502877	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:140502877C>A	ENST00000194152.1	+	1	1297	c.1297C>A	c.(1297-1299)Cag>Aag	p.Q433K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		433	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.Q433K(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGAAAACCCAGCAGAACAT	0.582000													33	123					1.02151e-06	1.42187e-06	0.002836	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57867885	57867885	+	Silent	SNP	G	G	T	rs61758883	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:57867885G>T	ENST00000393797.2	-	19	2320	c.2128C>A	c.(2128-2130)Cgg>Agg	p.R710R	ARHGAP9_ENST00000424809.2_Silent_p.R620R|ARHGAP9_ENST00000430041.2_Silent_p.R436R|ARHGAP9_ENST00000550288.1_Silent_p.R699R|ARHGAP9_ENST00000356411.2_Silent_p.R639R|ARHGAP9_ENST00000393791.3_Silent_p.R620R			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	639	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.R639R(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGCAGCTCCCGGAGAAAAAGC	0.572000													5	42					1.23904e-05	1.65319e-05	0.000602	1	0
IGSF8	93185	broad.mit.edu	37	1	160063849	160063849	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:160063849G>T	ENST00000368086.1	-	3	771	c.555C>A	c.(553-555)ggC>ggA	p.G185G	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Silent_p.G185G			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	185	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.G185G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCGCCAGGCAGCCCAGTGCCA	0.672000													5	75					0.000602214	0.000767466	0.000602	1	0
DNASE2	1777	broad.mit.edu	37	19	12986926	12986926	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:12986926G>A	ENST00000222219.3	-	6	1053	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	DNASE2_ENST00000538460.1_Missense_Mutation_p.R266W	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	321					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	p.R321W(1)		breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CCCCCACCCCGTTGCTCCTCT	0.607000													13	71					0	0	0.001368	0	0
FREM1	158326	broad.mit.edu	37	9	14846066	14846066	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:14846066A>T	ENST00000380881.4	-	9	2103	c.1288T>A	c.(1288-1290)Tct>Act	p.S430T	FREM1_ENST00000380880.3_Missense_Mutation_p.S429T|FREM1_ENST00000422223.2_Missense_Mutation_p.S429T			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	429					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.S430T(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGGCTCGAGACTGCCCCTCA	0.488000													6	11					0	0	0.001168	0	0
ASXL3	80816	broad.mit.edu	37	18	31324042	31324042	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr18:31324042C>A	ENST00000269197.5	+	12	4230	c.4230C>A	c.(4228-4230)caC>caA	p.H1410Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.H1410Q(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGGTTGCACACCCGACCGTCG	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	158					5.7616e-29	1.14051e-28	0.003610	1	0
CCDC108	255101	broad.mit.edu	37	2	219890792	219890792	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:219890792G>A	ENST00000341552.5	-	14	2384	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F	CCDC108_ENST00000453220.1_Silent_p.F767F|CCDC108_ENST00000441968.1_Silent_p.F767F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	767						integral to membrane	structural molecule activity	p.F767F(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAAGCCAGCGAAATAGCTGT	0.597000													5	59					0	0	0.000602	0	0
ABCB9	23457	broad.mit.edu	37	12	123419912	123419912	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:123419912G>A	ENST00000542678.1	-	10	4648	c.1810C>T	c.(1810-1812)Ctg>Ttg	p.L604L	ABCB9_ENST00000442028.2_Silent_p.L604L|ABCB9_ENST00000280560.8_Silent_p.L604L|ABCB9_ENST00000392439.3_Silent_p.L604L|ABCB9_ENST00000442833.2_Silent_p.L604L|ABCB9_ENST00000540285.1_Silent_p.L541L|ABCB9_ENST00000346530.5_Silent_p.L561L|ABCB9_ENST00000344275.7_Silent_p.L604L			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	604	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	p.L604L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ACAGTGGGCAGGCCGTAGGAG	0.617000													4	63					0	0	0.000602	0	0
OR7G2	390882	broad.mit.edu	37	19	9213076	9213076	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:9213076G>T	ENST00000305456.2	-	1	906	c.907C>A	c.(907-909)Cct>Act	p.P303T		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P303T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						ACCATTTGAGGGAACACAGAA	0.458000													24	58					7.88262e-20	1.44765e-19	0.003330	1	0
OTOGL	283310	broad.mit.edu	37	12	80661044	80661044	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:80661044G>A	ENST00000458043.2	+	21	2381	c.2375G>A	c.(2374-2376)cGt>cAt	p.R792H	OTOGL_ENST00000547103.1_Missense_Mutation_p.R792H	NM_173591.3	NP_775862.3			otogelin-like									p.R792H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTCCACTGCCGTTGTCATTAT	0.403000													5	11					0	0	0.001168	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140732045	140732045	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:140732045A>T	ENST00000523390.1	+	1	2218	c.2218A>T	c.(2218-2220)Agc>Tgc	p.S740C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1												p.S740C(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCAACCACAGCGAGGGGAC	0.562000													27	131					0	0	0.006320	0	0
IL31	386653	broad.mit.edu	37	12	122657105	122657105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:122657105G>A	ENST00000377035.1	-	3	375	c.349C>T	c.(349-351)Caa>Taa	p.Q117*		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	117						extracellular space	cytokine activity	p.Q117*(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGTGCATCTTGAAATATGAGT	0.433000													18	116					0	0	0.007413	0	0
GPR108	56927	broad.mit.edu	37	19	6731116	6731116	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:6731116C>T	ENST00000264080.7	-	17	1467	c.1441G>A	c.(1441-1443)Gtg>Atg	p.V481M	GPR108_ENST00000430424.4_Missense_Mutation_p.V239M|GPR108_ENST00000598626.1_Intron	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	481						integral to membrane		p.V481M(1)		breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GAGCCCTCCACCAAGAGCTGG	0.701000													6	39					0	0	0.001984	0	0
BPTF	2186	broad.mit.edu	37	17	65871782	65871782	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr17:65871782G>T	ENST00000321892.4	+	5	2036	c.1975G>T	c.(1975-1977)Ggg>Tgg	p.G659W	BPTF_ENST00000306378.6_Intron|BPTF_ENST00000335221.5_Missense_Mutation_p.G659W|BPTF_ENST00000424123.3_Missense_Mutation_p.G520W			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	659	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.G659W(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGCCCTGTGGGGTGTCTCTC	0.522000													21	46					4.96729e-08	7.42787e-08	0.008871	1	0
BCAR1	9564	broad.mit.edu	37	16	75269174	75269174	+	Silent	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:75269174A>T	ENST00000546196.1	-	5	3188	c.1536T>A	c.(1534-1536)ctT>ctA	p.L512L	BCAR1_ENST00000162330.5_Silent_p.L541L|BCAR1_ENST00000393422.2_Silent_p.L559L|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Silent_p.L587L|BCAR1_ENST00000542031.2_Silent_p.L539L|BCAR1_ENST00000538440.2_Silent_p.L541L|BCAR1_ENST00000535626.2_Silent_p.L393L|BCAR1_ENST00000420641.3_Silent_p.L559L|BCAR1_ENST00000393420.6_Silent_p.L559L			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	541	Ser-rich.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	p.L559L(1)|p.L587L(1)|p.L541L(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCTGCCGGCTAAGCTTGGCAT	0.662000													14	33					0	0	0.003163	0	0
ZNF530	348327	broad.mit.edu	37	19	58117956	58117956	+	Missense_Mutation	SNP	G	G	A	rs35182752		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:58117956G>A	ENST00000332854.6	+	3	1283	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E355K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGTGCAGTGAATGTGGAAA	0.463000													6	116					0	0	0.001984	0	0
MUC17	140453	broad.mit.edu	37	7	100683794	100683794	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:100683794G>T	ENST00000306151.4	+	3	9161	c.9097G>T	c.(9097-9099)Ggt>Tgt	p.G3033C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3033	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.G3033C(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTGCTGAAGGTACCGGCAT	0.522000													13	573					1.05317e-09	1.65156e-09	0.002450	1	0
KLHDC10	23008	broad.mit.edu	37	7	129765721	129765721	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:129765721T>A	ENST00000335420.5	+	7	1015	c.881T>A	c.(880-882)cTt>cAt	p.L294H		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	294								p.L294H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						GCATACAACCTTGAAACGAAT	0.274000													12	48					0	0	0.002450	0	0
AATK	9625	broad.mit.edu	37	17	79094822	79094822	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr17:79094822C>G	ENST00000326724.4	-	11	2938	c.2914G>C	c.(2914-2916)Ggc>Cgc	p.G972R	AATK_ENST00000417379.1_Missense_Mutation_p.G869R	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	972						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G972R(2)		endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGCCCGGGGCCCTCACCCTCT	0.622000													5	16					0	0	0.001168	0	0
CLDN4	1364	broad.mit.edu	37	7	73245707	73245707	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:73245707C>T	ENST00000435050.1	+	2	2856	c.176C>T	c.(175-177)aCc>aTc	p.T59I	CLDN4_ENST00000431918.1_Missense_Mutation_p.T59I|CLDN4_ENST00000340958.2_Missense_Mutation_p.T59I			O14493	CLD4_HUMAN	claudin 4	59					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	p.T59I(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GTGCAGAGCACCGGCCAGATG	0.642000													10	47					0	0	0.000978	0	0
OR2M5	127059	broad.mit.edu	37	1	248308490	248308490	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:248308490T>C	ENST00000366476.1	+	1	41	c.41T>C	c.(40-42)cTc>cCc	p.L14P		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L14P(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GACTTCATCCTCCTGGGAATC	0.438000													9	449					0	0	0.008291	0	0
APBA1	320	broad.mit.edu	37	9	72130971	72130971	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:72130971T>C	ENST00000265381.4	-	2	1378	c.1156A>G	c.(1156-1158)Agc>Ggc	p.S386G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	386	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.S386G(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CTGGTGGGGCTAATGTCCTGG	0.622000													3	136					0	0	0.000248	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99969246	99969246	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr10:99969246A>G	ENST00000298999.3	+	5	1678	c.1375A>G	c.(1375-1377)Aca>Gca	p.T459A	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.T459A|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like									p.T459A(1)									TACAGAGTCAACAGGAAAGTT	0.378000													8	70					0	0	0.004482	0	0
CEBPD	1052	broad.mit.edu	37	8	48650524	48650524	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:48650524G>A	ENST00000408965.3	-	1	1124	c.159C>T	c.(157-159)taC>taT	p.Y53Y		NM_005195.3	NP_005186.2	P49716	CEBPD_HUMAN	CCAAT/enhancer binding protein (C/EBP), delta	53					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y53Y(1)		lung(1)	1		all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914)				TCTCGTCGTCGTACATGGCGG	0.726000													4	61					0	0	0.000602	0	0
DFNB59	494513	broad.mit.edu	37	2	179320856	179320856	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:179320856G>T	ENST00000409117.3	+	4	883	c.527G>T	c.(526-528)gGa>gTa	p.G176V	DFNB59_ENST00000375129.4_Missense_Mutation_p.G176V|DFNB59_ENST00000605419.1_3'UTR	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	176					sensory perception of sound			p.G176V(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GTGCATGCTGGAATTCGAGGG	0.453000													12	26					1.08611e-07	1.58486e-07	0.000978	1	0
N4BP2	55728	broad.mit.edu	37	4	40104287	40104287	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr4:40104287C>T	ENST00000261435.6	+	4	1238	c.822C>T	c.(820-822)tgC>tgT	p.C274C		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	274						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	p.C274C(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AATCTGAGTGCGTTGAGGCTC	0.433000													19	92					0	0	0.007413	0	0
TTC30A	92104	broad.mit.edu	37	2	178483345	178483345	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:178483345C>T	ENST00000355689.4	-	1	349	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	29					cell projection organization	cilium	binding	p.E29K(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TGCACCGCCTCGGCGTAGCGG	0.677000													5	21					0	0	0.000602	0	0
ASB17	127247	broad.mit.edu	37	1	76387904	76387904	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:76387904A>G	ENST00000284142.6	-	2	681	c.542T>C	c.(541-543)aTt>aCt	p.I181T		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	181					intracellular signal transduction			p.I181T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TGTTAAGACAATGTTGATAGG	0.358000													15	48					0	0	0.002450	0	0
MSH6	2956	broad.mit.edu	37	2	48033436	48033436	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:48033436C>G	ENST00000234420.4	+	8	3892	c.3740C>G	c.(3739-3741)aCt>aGt	p.T1247S	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.T1117S|MSH6_ENST00000538136.1_Missense_Mutation_p.T945S	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1247					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.T1247S(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTATTTTCAACTCACTACCAT	0.353000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	84					0	0	0.003080	0	0
TWIST1	7291	broad.mit.edu	37	7	19156565	19156565	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:19156565G>A	ENST00000242261.5	-	1	730	c.380C>T	c.(379-381)gCg>gTg	p.A127V		NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	127	Helix-loop-helix motif.				aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.A127V(1)		lung(2)|upper_aerodigestive_tract(1)	3						CGCGGCGAACGCCTCGTTCAG	0.657000													4	25					0	0	0.000602	0	0
KLK2	3817	broad.mit.edu	37	19	51379887	51379887	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:51379887G>T	ENST00000325321.3	+	3	591	c.366G>T	c.(364-366)atG>atT	p.M122I	KLK2_ENST00000391810.2_Missense_Mutation_p.M20I|KLK2_ENST00000358049.4_Missense_Mutation_p.M122I			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	122	Peptidase S1.				proteolysis		serine-type endopeptidase activity	p.M122I(2)	KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		ATGACCTCATGCTGCTCCGCC	0.587000			T	ETV4	prostate								24	34					1.64293e-13	2.73633e-13	0.003330	1	0
TRPM3	80036	broad.mit.edu	37	9	73399097	73399097	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:73399097G>C	ENST00000377110.2	-	7	1315	c.1072C>G	c.(1072-1074)Cca>Gca	p.P358A	TRPM3_ENST00000358082.3_Missense_Mutation_p.P230A|TRPM3_ENST00000396285.1_Missense_Mutation_p.P205A|TRPM3_ENST00000396280.5_Missense_Mutation_p.P205A|TRPM3_ENST00000377105.1_Missense_Mutation_p.P205A|TRPM3_ENST00000357533.2_Missense_Mutation_p.P360A|TRPM3_ENST00000377101.1_Missense_Mutation_p.P205A|TRPM3_ENST00000396283.1_Missense_Mutation_p.P230A|TRPM3_ENST00000396292.4_Missense_Mutation_p.P230A|TRPM3_ENST00000408909.2_Missense_Mutation_p.P205A|TRPM3_ENST00000423814.3_Missense_Mutation_p.P385A|TRPM3_ENST00000361823.5_Missense_Mutation_p.P205A|TRPM3_ENST00000360823.2_Missense_Mutation_p.P230A|TRPM3_ENST00000377111.2_Missense_Mutation_p.P358A|TRPM3_ENST00000377106.1_Missense_Mutation_p.P230A	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	383						integral to membrane	calcium channel activity	p.P230A(1)|p.P358A(1)|p.P360A(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACAACCACTGGCACGGGAGGG	0.542000													20	74					0	0	0.008871	0	0
ROBO3	64221	broad.mit.edu	37	11	124740965	124740965	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:124740965C>A	ENST00000397801.1	+	7	1281	c.1089C>A	c.(1087-1089)agC>agA	p.S363R	ROBO3_ENST00000538940.1_Missense_Mutation_p.S341R	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	363	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity	p.S363R(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTGGAGAGAGCGTGGCTTTCC	0.602000													22	46					1.22574e-08	1.86173e-08	0.002299	1	0
LMBRD1	55788	broad.mit.edu	37	6	70490434	70490434	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:70490434C>G	ENST00000370577.3	-	3	488	c.259G>C	c.(259-261)Gct>Cct	p.A87P	LMBRD1_ENST00000370570.1_Missense_Mutation_p.A14P	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	87					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	p.A87S(1)|p.A87P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CTGACATTAGCATTAGCCCAG	0.338000													38	32					0	0	0.008740	0	0
TNRC6B	23112	broad.mit.edu	37	22	40661419	40661419	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr22:40661419C>T	ENST00000454349.2	+	5	1396	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Silent_p.P395P	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	395					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						AGGGAATGCCCTTTGGAATGG	0.478000													12	38					0	0	0.000978	0	0
OLFML1	283298	broad.mit.edu	37	11	7530834	7530834	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:7530834C>A	ENST00000329293.3	+	3	1018	c.624C>A	c.(622-624)atC>atA	p.I208I	OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Silent_p.I208I|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	208	Olfactomedin-like.					extracellular region		p.I208I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGAAGCAAATCCTAACACTTT	0.403000													24	36					3.7963e-18	6.81641e-18	0.003330	1	0
GBAS	2631	broad.mit.edu	37	7	56049250	56049250	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:56049250G>T	ENST00000322090.3	+	4	392	c.363G>T	c.(361-363)caG>caT	p.Q121H	GBAS_ENST00000446778.1_Missense_Mutation_p.R106M	NM_001483.2	NP_001474.1	O75323	NIPS2_HUMAN	glioblastoma amplified sequence	121						integral to plasma membrane|membrane fraction|mitochondrion	protein binding	p.Q121H(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGGCGAGCAGGACCAAGCTG	0.398000													43	98					8.69298e-16	1.51578e-15	0.006999	1	0
TECRL	253017	broad.mit.edu	37	4	65147240	65147240	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr4:65147240G>T	ENST00000381210.3	-	10	980	c.870C>A	c.(868-870)ccC>ccA	p.P290P	TECRL_ENST00000507440.1_Silent_p.P290P	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	290					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.P290P(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCCATGTGAAGGGGTTATAAT	0.328000													18	46					1.15919e-05	1.55524e-05	0.008871	1	0
DLGAP4	22839	broad.mit.edu	37	20	35060507	35060507	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr20:35060507C>T	ENST00000373913.3	+	3	867	c.387C>T	c.(385-387)gcC>gcT	p.A129A	DLGAP4_ENST00000373907.2_Silent_p.A129A|DLGAP4_ENST00000401952.2_Silent_p.A129A|DLGAP4_ENST00000339266.5_Silent_p.A129A			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	129					cell-cell signaling	membrane	protein binding	p.A129A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GTGGCGAGGCCAAGGCCCGTG	0.642000													25	232					0	0	0.003330	0	0
ZNF418	147686	broad.mit.edu	37	19	58439157	58439157	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:58439157T>A	ENST00000396147.1	-	4	683	c.392A>T	c.(391-393)tAc>tTc	p.Y131F	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.Y46F|ZNF418_ENST00000425570.3_Missense_Mutation_p.Y152F|ZNF418_ENST00000595830.1_Missense_Mutation_p.Y131F	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y131F(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CTCTCCAAGGTACTGATTCTG	0.453000													17	163					0	0	0.004990	0	0
PCSK1	5122	broad.mit.edu	37	5	95764992	95764992	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:95764992G>C	ENST00000311106.3	-	2	447	c.210C>G	c.(208-210)ttC>ttG	p.F70L	PCSK1_ENST00000508626.1_Missense_Mutation_p.F23L|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	70					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.F70L(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTTATGTTTGAATAAGTAGT	0.328000													5	103					0	0	0.000602	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19687463	19687463	+	Splice_Site	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr21:19687463C>A	ENST00000284885.3	-	17	2065	c.2032_splice	c.e17+1	p.V678_splice		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	678	LDL-receptor class A 2.|SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.V678L(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TAAGACATACCACAATCTGCT	0.398000													10	83					7.48243e-07	1.04754e-06	0.006214	1	0
ZNF442	79973	broad.mit.edu	37	19	12461717	12461717	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:12461717C>A	ENST00000242804.4	-	6	1264	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	ZNF442_ENST00000438182.1_Nonsense_Mutation_p.E159*	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E228*(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TGAGTTCTTTCATGCATACGA	0.393000													37	117					2.20474e-14	3.73645e-14	0.003755	1	0
ALG11	440138	broad.mit.edu	37	13	52598305	52598305	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr13:52598305T>G	ENST00000521508.1	+	3	444	c.439T>G	c.(439-441)Ttc>Gtc	p.F147V	ALG11_ENST00000523764.1_Intron|ALG11_ENST00000519151.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase									p.F147V(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		GTATCCTCACTTCACACTGCT	0.403000													7	100					0	0	0.003080	0	0
THEM5	284486	broad.mit.edu	37	1	151820280	151820280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:151820280G>A	ENST00000368817.5	-	5	765	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384.1	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	212							hydrolase activity	p.Q212*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TAAAGCTTCTGGTCCTCAATC	0.567000													27	59					0	0	0.003610	0	0
HKR1	284459	broad.mit.edu	37	19	37854368	37854368	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:37854368G>T	ENST00000591471.1	+	9	2493	c.852G>T	c.(850-852)gaG>gaT	p.E284D	HKR1_ENST00000324411.4_Missense_Mutation_p.E557D|HKR1_ENST00000392153.3_Missense_Mutation_p.E538D|HKR1_ENST00000541583.2_Missense_Mutation_p.E496D|HKR1_ENST00000589392.1_Missense_Mutation_p.E539D|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Missense_Mutation_p.E284D			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	557					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E557D(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGCAGGGAGTGTGGCAGAA	0.502000													21	34					1.50039e-11	2.4076e-11	0.001882	1	0
MDGA2	161357	broad.mit.edu	37	14	47351411	47351411	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:47351411C>A	ENST00000426342.1	-	11	2104	c.1358G>T	c.(1357-1359)cGc>cTc	p.R453L	MDGA2_ENST00000439988.2_Missense_Mutation_p.R682L|MDGA2_ENST00000357362.3_Missense_Mutation_p.R453L|MDGA2_ENST00000399232.2_Missense_Mutation_p.R751L	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	682	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.R453L(2)|p.R751L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTCCCACCAGCGCTGCTGTCC	0.323000													11	49					0.000151284	0.000197488	0.001855	1	0
ABCC9	10060	broad.mit.edu	37	12	22068791	22068791	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:22068791C>G	ENST00000261200.4	-	5	626	c.627G>C	c.(625-627)caG>caC	p.Q209H	ABCC9_ENST00000345162.2_Missense_Mutation_p.Q209H|ABCC9_ENST00000261201.4_Missense_Mutation_p.Q209H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	209					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.Q209H(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTCCCAGATCCTGGAGGTCTT	0.363000													28	57					0	0	0.007291	0	0
DCDC1	341019	broad.mit.edu	37	11	31329334	31329334	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:31329334C>G	ENST00000597505.1	-	2	285	c.286G>C	c.(286-288)Gat>Cat	p.D96H	RP1-296L11.1_ENST00000528872.1_RNA|DCDC1_ENST00000452803.1_Missense_Mutation_p.D96H			P59894	DCDC1_HUMAN	doublecortin domain containing 1	96					intracellular signal transduction			p.D96H(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTGGAGCAATCTTGAAGTCCT	0.388000													5	279					0	0	0.001984	0	0
CDH12	1010	broad.mit.edu	37	5	21975358	21975358	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:21975358G>A	ENST00000382254.1	-	6	1454	c.368C>T	c.(367-369)cCt>cTt	p.P123L	CDH12_ENST00000522262.1_Missense_Mutation_p.P123L|CDH12_ENST00000504376.2_Missense_Mutation_p.P123L	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	123	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P123L(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGTGTAGAAAGGTTTCTCTTC	0.443000										HNSCC(59;0.17)			4	175					0	0	0.000248	0	0
PCSK5	5125	broad.mit.edu	37	9	78686767	78686767	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:78686767G>C	ENST00000545128.1	+	7	1385	c.847G>C	c.(847-849)Gga>Cga	p.G283R	PCSK5_ENST00000376752.4_Missense_Mutation_p.G283R|PCSK5_ENST00000376767.3_Missense_Mutation_p.G283R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	283	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.G283R(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GACTGTGGACGGACCAGCCCC	0.527000													47	199					0	0	0.003610	0	0
PTPRK	5796	broad.mit.edu	37	6	128294253	128294253	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:128294253C>T	ENST00000368227.3	-	30	4600	c.4234G>A	c.(4234-4236)Gaa>Aaa	p.E1412K	PTPRK_ENST00000368226.4_Missense_Mutation_p.E1395K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E1417K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E1413K|PTPRK_ENST00000368215.3_Missense_Mutation_p.E1394K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E1427K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E1401K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1394	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.E1395K(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTCACCATTTCAACAACGATG	0.468000													30	167					0	0	0.006320	0	0
ZNF776	284309	broad.mit.edu	37	19	58262174	58262174	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:58262174G>A	ENST00000317178.5	+	2	318	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	ZNF776_ENST00000431353.1_Missense_Mutation_p.V19M	NM_173632.3	NP_775903.3			zinc finger protein 776									p.V19M(1)		cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		CTTTGAAGATGTGGCTGTGAA	0.488000													10	139					0	0	0.001368	0	0
PRPF4B	8899	broad.mit.edu	37	6	4032758	4032758	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:4032758G>T	ENST00000337659.6	+	2	1107	c.1007G>T	c.(1006-1008)gGg>gTg	p.G336V	PRPF4B_ENST00000538861.1_Missense_Mutation_p.G322V	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	336	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	p.G336V(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GCTTCATCTGGGAAAGAAAAT	0.408000													69	59					1.43987e-31	2.89773e-31	0.003610	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766034	77766034	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:77766034G>T	ENST00000521891.2	+	10	7325	c.6877G>T	c.(6877-6879)Gat>Tat	p.D2293Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2248Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2267Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2248Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2248						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D2277Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAAACAAAAGATAATGAAAA	0.408000										HNSCC(33;0.089)			31	54					8.58068e-18	1.53499e-17	0.007291	1	0
GNPDA1	10007	broad.mit.edu	37	5	141387389	141387389	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:141387389C>A	ENST00000508177.1	-	2	959	c.201G>T	c.(199-201)aaG>aaT	p.K67N	GNPDA1_ENST00000542860.1_Missense_Mutation_p.K67N|GNPDA1_ENST00000458112.2_Intron|GNPDA1_ENST00000311337.6_Missense_Mutation_p.K67N|GNPDA1_ENST00000500692.2_Missense_Mutation_p.K67N|GNPDA1_ENST00000503794.1_Missense_Mutation_p.K67N|GNPDA1_ENST00000513454.1_Missense_Mutation_p.K67N			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	67					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	p.K67N(1)		central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGAAGGTCTTCACATATT	0.478000													64	202					2.03652e-46	4.20359e-46	0.003610	1	0
PLCL1	5334	broad.mit.edu	37	2	198950297	198950297	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:198950297C>G	ENST00000428675.1	+	2	2454	c.2056C>G	c.(2056-2058)Ctt>Gtt	p.L686V	PLCL1_ENST00000437704.2_Missense_Mutation_p.L588V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	686	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.L588V(1)|p.L686V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGGCTGGTTTCTTCAAAACGG	0.453000													5	140					0	0	0.000602	0	0
MYH7B	57644	broad.mit.edu	37	20	33578063	33578063	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr20:33578063G>C	ENST00000262873.7	+	20	2145	c.2053G>C	c.(2053-2055)Gag>Cag	p.E685Q		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	643	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.E685Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGGGTGAAAGAGAAGCGTAA	0.597000													5	252					0	0	0.001984	0	0
CHFR	55743	broad.mit.edu	37	12	133438086	133438086	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:133438086C>A	ENST00000266880.7	-	7	817	c.754G>T	c.(754-756)Gat>Tat	p.D252Y	CHFR_ENST00000315585.7_Missense_Mutation_p.D211Y|CHFR_ENST00000450056.2_Missense_Mutation_p.D240Y|CHFR_ENST00000443047.2_Missense_Mutation_p.D160Y|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.D252Y			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	252					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.D211Y(1)|p.D252Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGCTCCAAATCCTCCTGATCC	0.567000													41	105					9.39024e-22	1.75115e-21	0.002222	1	0
ESRRB	2103	broad.mit.edu	37	14	76965136	76965136	+	Missense_Mutation	SNP	G	G	A	rs141650196	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:76965136G>A	ENST00000261532.7	+	8	1436	c.1364G>A	c.(1363-1365)cGa>cAa	p.R455Q	ESRRB_ENST00000509242.1_Intron|ESRRB_ENST00000380887.2_Intron|RP11-187O7.3_ENST00000554926.1_lincRNA			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R455Q(1)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCCCTCCACCGAGCCACCAAG	0.627000													8	32					0	0	0.004482	0	0
MYO16	23026	broad.mit.edu	37	13	109699269	109699269	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr13:109699269G>A	ENST00000356711.2	+	24	2862	c.2736G>A	c.(2734-2736)atG>atA	p.M912I	MYO16_ENST00000251041.5_Missense_Mutation_p.M912I|MYO16_ENST00000457511.2_Missense_Mutation_p.M424I|MYO16_ENST00000357550.2_Missense_Mutation_p.M912I	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	912	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.M912I(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCTAGGTAATGTATGATGTTG	0.318000													13	113					0	0	0.002450	0	0
PPP2R3C	55012	broad.mit.edu	37	14	35554835	35554835	+	Silent	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:35554835T>G	ENST00000261475.5	-	13	1676	c.1323A>C	c.(1321-1323)gcA>gcC	p.A441A		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	441						centrosome|nucleus	calcium ion binding	p.A441A(1)		central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CACTGTCATTTGCAACAAGAG	0.383000													19	73					0	0	0.001882	0	0
EGFLAM	133584	broad.mit.edu	37	5	38458490	38458490	+	Missense_Mutation	SNP	C	C	A	rs139285515	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:38458490C>A	ENST00000322350.5	+	20	3111	c.2765C>A	c.(2764-2766)gCc>gAc	p.A922D	EGFLAM_ENST00000354891.3_Missense_Mutation_p.A930D|EGFLAM_ENST00000514476.1_Missense_Mutation_p.A65D|EGFLAM_ENST00000506135.1_Missense_Mutation_p.A65D|EGFLAM_ENST00000397210.3_Missense_Mutation_p.A65D|EGFLAM_ENST00000336740.6_Missense_Mutation_p.A688D|EGFLAM_ENST00000397202.2_Missense_Mutation_p.A288D	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	930	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse		p.A930D(1)|p.A922D(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CGAGTTAAGGCCGTTAGGTGA	0.562000													18	66					1.15919e-05	1.55524e-05	0.008871	1	0
NBAS	51594	broad.mit.edu	37	2	15496520	15496520	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:15496520G>T	ENST00000281513.5	-	33	3863	c.3838C>A	c.(3838-3840)Cgg>Agg	p.R1280R	NBAS_ENST00000441750.1_Silent_p.R1160R	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1280								p.R1280R(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACCTGTCCCCGCCTTTCTTCT	0.453000													18	81					2.94398e-08	4.42973e-08	0.007413	1	0
MUC16	94025	broad.mit.edu	37	19	9048993	9048993	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:9048993G>C	ENST00000397910.4	-	5	32841	c.32638C>G	c.(32638-32640)Cct>Gct	p.P10880A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10882	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P6513A(1)|p.P10880A(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						GTGACCAAAGGGGTCACTACT	0.493000													27	114					0	0	0.004656	0	0
LPHN3	23284	broad.mit.edu	37	4	62778453	62778453	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr4:62778453G>A	ENST00000512091.1	+	12	2633	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	LPHN3_ENST00000504896.1_Missense_Mutation_p.R629H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R697H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R697H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R629H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R697H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R629H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R697H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R697H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R629H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R697H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R629H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R629H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R697H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R629H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	623					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R629H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAAAGAGAGCGCTCTTGCAGA	0.363000													23	92					0	0	0.002299	0	0
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:97869931A>T	ENST00000420699.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289000													4	26					0	0	0.001168	0	0
PKP1	5317	broad.mit.edu	37	1	201293709	201293709	+	Splice_Site	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:201293709G>T	ENST00000263946.3	+	11	2148	c.1897_splice	c.e11+1	p.G633_splice	PKP1_ENST00000367324.3_Splice_Site_p.G612_splice|PKP1_ENST00000352845.3_Splice_Site_p.G633_splice	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	633					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis	p.G633W(1)|p.G612W(1)		NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAGAGTGATGGGTAAGGTCCC	0.572000													11	21					4.68919e-08	7.03378e-08	0.008291	1	0
UGGT2	55757	broad.mit.edu	37	13	96601613	96601613	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr13:96601613G>A	ENST00000376747.3	-	13	1501	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	477					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	p.S477S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGCGCCTTATGGAAGGTACAC	0.318000													21	35					0	0	0.008871	0	0
TRPV6	55503	broad.mit.edu	37	7	142575519	142575519	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:142575519C>A	ENST00000359396.3	-	3	479	c.234G>T	c.(232-234)atG>atT	p.M78I	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	78					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.M78I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGTTTCCCCCATGGCTCCTG	0.572000													32	98					1.61788e-16	2.85195e-16	0.002445	1	0
OSMR	9180	broad.mit.edu	37	5	38883971	38883971	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:38883971A>T	ENST00000274276.3	+	5	863	c.461A>T	c.(460-462)aAa>aTa	p.K154I	OSMR_ENST00000502536.1_Missense_Mutation_p.K154I	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	154					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.K154I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GTTTTCCCTAAAGATAAGCTG	0.348000													33	120					0	0	0.004289	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5200305	5200305	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:5200305G>A	ENST00000274181.7	+	9	1512	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M458I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	458	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.M458I(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCAACATCATGTCCCCTACAT	0.473000													9	50					0	0	0.004482	0	0
MYLK	4638	broad.mit.edu	37	3	123458825	123458825	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:123458825G>A	ENST00000360772.3	-	7	775	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	MYLK_ENST00000359169.1_Nonsense_Mutation_p.Q133*|MYLK_ENST00000360304.3_Nonsense_Mutation_p.Q133*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.Q133*|MYLK_ENST00000475616.1_Nonsense_Mutation_p.Q133*			Q15746	MYLK_HUMAN	myosin light chain kinase	133			Q -> H.		aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.Q133*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACAACAGGCTGACCAAGCTGC	0.463000													6	241					0	0	0.001168	0	0
DMD	1756	broad.mit.edu	37	X	32663166	32663166	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chrX:32663166A>C	ENST00000357033.4	-	10	1270	c.1064T>G	c.(1063-1065)cTt>cGt	p.L355R	DMD_ENST00000378677.2_Missense_Mutation_p.L351R|DMD_ENST00000288447.4_Missense_Mutation_p.L347R	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	355					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.L355R(1)|p.L350R(1)|p.L351R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCAGAAAGAAGCCACGATAA	0.408000													13	95					0	0	0.001368	0	0
LPHN2	23266	broad.mit.edu	37	1	82456564	82456564	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:82456564A>T	ENST00000370728.1	+	25	4760	c.4115A>T	c.(4114-4116)tAt>tTt	p.Y1372F	LPHN2_ENST00000271029.4_Missense_Mutation_p.Y1344F|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y1374F|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y1316F|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370721.1_Missense_Mutation_p.Y1297F|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y1329F|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y1387F|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y1374F|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y1387F|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y1316F|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y1344F|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y1329F			O95490	LPHN2_HUMAN	latrophilin 2	1372					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.Y1387F(1)|p.Y1316F(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTCTCTTTATACAAGCATG	0.517000													7	91					0	0	0.001984	0	0
ORAI1	84876	broad.mit.edu	37	12	122079355	122079355	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:122079355G>A	ENST00000330079.7	+	2	911	c.718G>A	c.(718-720)Gcc>Acc	p.A240T		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	238					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.A240T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		AGCTGCCATCGCCTCGACCAC	0.642000													9	62					0	0	0.004482	0	0
OBSCN	84033	broad.mit.edu	37	1	228557766	228557766	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:228557766C>T	ENST00000570156.2	+	102	23036	c.22962C>T	c.(22960-22962)ttC>ttT	p.F7654F	OBSCN_ENST00000422127.1_Silent_p.F6697F|OBSCN_ENST00000366707.4_Silent_p.F4331F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6697					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.F7409F(1)|p.F7279F(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAAAGACTTCATCAAGGCTA	0.682000													5	77					0	0	0.001168	0	0
NFE2L1	4779	broad.mit.edu	37	17	46128597	46128597	+	Silent	SNP	C	C	T	rs141933946	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr17:46128597C>T	ENST00000362042.3	+	2	733	c.117C>T	c.(115-117)ctC>ctT	p.L39L	NFE2L1_ENST00000585291.1_Silent_p.L39L|NFE2L1_ENST00000361665.3_Silent_p.L39L|NFE2L1_ENST00000357480.5_Silent_p.L39L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	39					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.L39L(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCCCCCACTCCGGGAGATCA	0.522000													38	109					0	0	0.006230	0	0
PRRC2C	23215	broad.mit.edu	37	1	171504670	171504670	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:171504670G>T	ENST00000367742.3	+	13	2219	c.1977G>T	c.(1975-1977)ccG>ccT	p.P659P	PRRC2C_ENST00000426496.2_Silent_p.P657P|PRRC2C_ENST00000392078.3_Silent_p.P659P|PRRC2C_ENST00000338920.4_Silent_p.P657P			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	657							protein C-terminus binding	p.P659P(2)									AACCTCGGCCGGCTGTATTAT	0.443000													61	189					2.81305e-35	5.73292e-35	0.003610	1	0
CEP192	55125	broad.mit.edu	37	18	13087217	13087217	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr18:13087217G>C	ENST00000506447.1	+	31	5898	c.5818G>C	c.(5818-5820)Gat>Cat	p.D1940H	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.D1465H|CEP192_ENST00000325971.8_Missense_Mutation_p.D1344H	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1535								p.D1940H(1)|p.D1344H(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGTTTTGCTGGATCCTAAAGT	0.343000													3	72					0	0	0.004672	0	0
ENPP7	339221	broad.mit.edu	37	17	77709206	77709206	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr17:77709206G>A	ENST00000328313.5	+	3	985	c.764G>A	c.(763-765)cGg>cAg	p.R255Q		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	255					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.R255Q(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTGGACAAACGGGCTGGCGAC	0.597000													24	57					0	0	0.008361	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58183597	58183597	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:58183597C>A	ENST00000483681.1	-	8	1236	c.655G>T	c.(655-657)Gac>Tac	p.D219Y	DNASE1L3_ENST00000394549.2_Missense_Mutation_p.D219Y|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D219Y|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D189Y			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	219					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	p.D219Y(1)		breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCCTCTTGGTCCCCGATCAGC	0.572000													23	51					6.44725e-10	1.01765e-09	0.002299	1	0
PASD1	139135	broad.mit.edu	37	X	150828215	150828215	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chrX:150828215T>G	ENST00000370357.4	+	10	993	c.748T>G	c.(748-750)Tat>Gat	p.Y250D		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	250						nucleus	signal transducer activity	p.Y250D(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGAGCAGTATGGACCACA	0.393000													5	64					0	0	0.000602	0	0
TRIM10	10107	broad.mit.edu	37	6	30121946	30121946	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:30121946C>A	ENST00000449742.2	-	7	1321	c.1246G>T	c.(1246-1248)Ggc>Tgc	p.G416C	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	416	B30.2/SPRY.					cytoplasm	zinc ion binding	p.G12C(1)|p.G416C(1)		ovary(1)	1						GGGAAGGAGCCCAGAGCCGAG	0.662000													22	19					1.33986e-20	2.48905e-20	0.004656	1	0
NUP188	23511	broad.mit.edu	37	9	131743636	131743636	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:131743636C>T	ENST00000372577.2	+	15	1504	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	495					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.R495W(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AACTCTTTGGCGGAGACAAAC	0.403000													5	166					0	0	0.000602	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766282	77766282	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:77766282C>A	ENST00000521891.2	+	10	7573	c.7125C>A	c.(7123-7125)aaC>aaA	p.N2375K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.N2330K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N2349K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N2330K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2330	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N2359K(1)|p.N2359N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCTAAAAACGCTGCTGCCC	0.507000										HNSCC(33;0.089)			85	196					1.8615e-32	3.76194e-32	0.003610	1	0
PUS7	54517	broad.mit.edu	37	7	105108805	105108805	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:105108805C>T	ENST00000356362.2	-	12	1718	c.1504G>A	c.(1504-1506)Ggg>Agg	p.G502R	PUS7_ENST00000469408.1_Missense_Mutation_p.G502R	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	502	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.G502R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						ACGAGGTCCCCTGGAACAGGT	0.408000													52	183					0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	30934761	30934761	+	Missense_Mutation	SNP	G	G	T	rs139989586		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:30934761G>T	ENST00000355537.3	+	2	439	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G98W(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAGCCTCAACGGGAGGGTGGA	0.652000													4	18					0.000602214	0.000767466	0.000602	1	0
DGKK	139189	broad.mit.edu	37	X	50112015	50112015	+	RNA	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chrX:50112015T>C	ENST00000376025.2	-	0	3798							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTGCCATAAATTGCCTTCAGA	0.433000													3	31					0	0	0.000248	0	0
KCNC2	3747	broad.mit.edu	37	12	75444758	75444758	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:75444758C>A	ENST00000549446.1	-	3	1707	c.1027G>T	c.(1027-1029)Gtg>Ttg	p.V343L	KCNC2_ENST00000548513.1_Missense_Mutation_p.V343L|KCNC2_ENST00000393288.2_Missense_Mutation_p.V343L|KCNC2_ENST00000550433.1_Missense_Mutation_p.V343L|KCNC2_ENST00000350228.2_Missense_Mutation_p.V343L|KCNC2_ENST00000298972.1_Missense_Mutation_p.V343L|KCNC2_ENST00000540018.1_Missense_Mutation_p.V343L|KCNC2_ENST00000341669.3_Missense_Mutation_p.V343L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	343					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V343L(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AAGCCAAGCACATCTTTAGCA	0.458000													16	53					1.01871e-10	1.61855e-10	0.008871	1	0
SAP130	79595	broad.mit.edu	37	2	128712558	128712558	+	Splice_Site	SNP	A	A	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:128712558A>C	ENST00000357702.5	-	16	2632		c.e16+1		SAP130_ENST00000259234.6_Splice_Site|SAP130_ENST00000259235.3_Splice_Site	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa						histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	p.?(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGACGGACTTACCAGAAACTG	0.488000													12	72					0	0	0.002450	0	0
ADAM28	10863	broad.mit.edu	37	8	24184143	24184143	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:24184143G>A	ENST00000265769.4	+	10	1077	c.967G>A	c.(967-969)Gtt>Att	p.V323I	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.V90I|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.V323I|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.V70I	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	323	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V323I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTTGGCGTTGTTCAGGTCTG	0.343000													101	95					0	0	0.003610	0	0
NXF1	10482	broad.mit.edu	37	11	62568674	62568674	+	Splice_Site	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:62568674C>A	ENST00000531709.2	-	9	912		c.e9-1		NXF1_ENST00000531131.1_Splice_Site|NXF1_ENST00000294172.2_Splice_Site|NXF1_ENST00000532297.1_Splice_Site|NXF1_ENST00000439713.2_Splice_Site	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1						gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGACAATAGCTGTGAGGAGA	0.493000													13	44					0.000151284	0.000197488	0.001855	1	0
FBN2	2201	broad.mit.edu	37	5	127713551	127713551	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:127713551C>G	ENST00000508053.1	-	19	2717	c.1743G>C	c.(1741-1743)caG>caC	p.Q581H	FBN2_ENST00000262464.4_Missense_Mutation_p.Q581H|FBN2_ENST00000508989.1_Missense_Mutation_p.Q548H			P35556	FBN2_HUMAN	fibrillin 2	581	EGF-like 8; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.Q581H(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAACCCCATTCTGGATGCACT	0.358000													15	203					0	0	0.003163	0	0
ASTN1	460	broad.mit.edu	37	1	176845701	176845701	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:176845701G>A	ENST00000367654.2	-	21	3472	c.3459C>T	c.(3457-3459)tgC>tgT	p.C1153C	ASTN1_ENST00000367657.3_Silent_p.C1145C|ASTN1_ENST00000424564.2_Silent_p.C1145C|ASTN1_ENST00000361833.2_Silent_p.C1145C			O14525	ASTN1_HUMAN	astrotactin 1	1153					cell migration|neuron cell-cell adhesion	integral to membrane		p.C1145C(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCACCACGGGGCATGGGGTCT	0.577000													25	64					0	0	0.005443	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362429	105362429	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr10:105362429C>G	ENST00000369774.4	-	15	2822	c.2546G>C	c.(2545-2547)aGc>aCc	p.S849T	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S684T|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S716T|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S821T|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	849	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	p.S821T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTGGTAGGCGCTGCATGTCAT	0.612000													11	65					0	0	0.000978	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768813	51768813	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:51768813C>A	ENST00000316401.7	+	3	595	c.214C>A	c.(214-216)Cta>Ata	p.L72I	SIGLECL1_ENST00000593968.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000597824.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1									p.L72I(1)									CACCATCAGCCTAACTGAAGA	0.557000													13	70					5.50884e-06	7.43231e-06	0.001368	1	0
WNK1	65125	broad.mit.edu	37	12	977030	977030	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:977030A>G	ENST00000574564.1	+	1	71	c.35A>G	c.(34-36)cAg>cGg	p.Q12R	WNK1_ENST00000537687.1_Splice_Site|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Splice_Site|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000340908.4_Intron			Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2162					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATGTTGATACAGCCTCAGTCC	0.413000													14	30					0	0	0.002450	0	0
CXorf22	170063	broad.mit.edu	37	X	35974306	35974306	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chrX:35974306G>T	ENST00000297866.5	+	8	1469	c.1403G>T	c.(1402-1404)gGt>gTt	p.G468V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	468								p.G468V(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ACTGGAGGGGGTATGGTGGTA	0.358000													15	8					6.31663e-08	9.38748e-08	0.003163	1	0
SCRIB	23513	broad.mit.edu	37	8	144876106	144876106	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:144876106C>T	ENST00000356994.2	-	28	3879	c.3873G>A	c.(3871-3873)aaG>aaA	p.K1291K	SCRIB_ENST00000377533.3_Silent_p.K1210K|SCRIB_ENST00000320476.3_Silent_p.K1291K|SCRIB_ENST00000546337.1_5'UTR	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1291					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	p.K1291K(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ATTCAGCCATCTTCCCTCCAG	0.662000													7	80					0	0	0.003080	0	0
LRP1B	53353	broad.mit.edu	37	2	142238044	142238044	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:142238044G>T	ENST00000389484.3	-	3	1235	c.264C>A	c.(262-264)aaC>aaA	p.N88K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	88	LDL-receptor class A 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.N88K(1)		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)		GAACACATTTGTTGGTACCAA	0.433000										TSP Lung(27;0.18)			5	56					1.23904e-05	1.65319e-05	0.000602	1	0
MIB1	57534	broad.mit.edu	37	18	19345792	19345792	+	Nonsense_Mutation	SNP	C	C	T	rs151095403		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr18:19345792C>T	ENST00000261537.6	+	2	553	c.289C>T	c.(289-291)Cga>Tga	p.R97*	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	97					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	p.R97*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CATTGGCATTCGATGGAAGTG	0.393000													12	61					0	0	0.001368	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735712	140735712	+	Nonsense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:140735712T>A	ENST00000571252.1	+	1	945	c.945T>A	c.(943-945)taT>taA	p.Y315*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGATTCTATGACATAGATG	0.438000													7	19					0	0	0.001984	0	0
TRAF3	7187	broad.mit.edu	37	14	103371649	103371649	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:103371649C>T	ENST00000560371.1	+	11	1452	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V	TRAF3_ENST00000351691.5_Missense_Mutation_p.A387V|TRAF3_ENST00000539721.1_Missense_Mutation_p.A329V|TRAF3_ENST00000392745.2_Missense_Mutation_p.A412V|TRAF3_ENST00000347662.4_Missense_Mutation_p.A387V	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	412					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.A412V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		CTGGAGACCGCCAGCTACAAT	0.612000													22	50					0	0	0.001523	0	0
ZBTB3	79842	broad.mit.edu	37	11	62519947	62519947	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:62519947A>T	ENST00000394807.3	-	2	1465	c.1340T>A	c.(1339-1341)cTg>cAg	p.L447Q		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L447Q(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TGGCTCATGCAGGGATGCGGG	0.552000													21	54					0	0	0.002780	0	0
SORCS2	57537	broad.mit.edu	37	4	7728606	7728606	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr4:7728606G>C	ENST00000507866.2	+	21	2954	c.2845G>C	c.(2845-2847)Gac>Cac	p.D949H	SORCS2_ENST00000329016.9_Missense_Mutation_p.D777H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	949						integral to membrane	neuropeptide receptor activity	p.D799H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGTGCTGCAGGACTCCAGGGT	0.632000													21	34					0	0	0.008871	0	0
KCTD13	253980	broad.mit.edu	37	16	29934554	29934554	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:29934554T>G	ENST00000568000.1	-	2	1372	c.371A>C	c.(370-372)tAc>tCc	p.Y124S	KCTD13_ENST00000561540.1_Missense_Mutation_p.Y124S	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	124					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	p.Y124S(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CTGCACCAGGTAGTAGCGTGC	0.607000													9	31					0	0	0.008291	0	0
SH2D5	400745	broad.mit.edu	37	1	21050589	21050589	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:21050589C>T	ENST00000375031.1	-	6	1158	c.534G>A	c.(532-534)tcG>tcA	p.S178S	SH2D5_ENST00000444387.2_Silent_p.S262S|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	178								p.S178S(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTCCCGAGCCGACAGCTGCA	0.667000													6	28					0	0	0.001984	0	0
FCER2	2208	broad.mit.edu	37	19	7754258	7754258	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:7754258G>A	ENST00000346664.5	-	11	999	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	FCER2_ENST00000597921.1_Missense_Mutation_p.R263W|FCER2_ENST00000360067.4_Missense_Mutation_p.R262W	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	263	C-type lectin.				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding	p.R263W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCGGAGCCCCGCATCATCACG	0.687000													5	14					0	0	0.000602	0	0
CELF4	56853	broad.mit.edu	37	18	34850743	34850743	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr18:34850743G>T	ENST00000420428.2	-	8	1482	c.1087C>A	c.(1087-1089)Cac>Aac	p.H363N	CELF4_ENST00000591287.1_Missense_Mutation_p.H362N|CELF4_ENST00000603232.1_Missense_Mutation_p.H362N|CELF4_ENST00000412753.1_Missense_Mutation_p.H362N|CELF4_ENST00000588597.1_Missense_Mutation_p.H352N|CELF4_ENST00000601019.1_Missense_Mutation_p.H361N|CELF4_ENST00000334919.5_Missense_Mutation_p.H353N|CELF4_ENST00000361795.5_Missense_Mutation_p.H361N|CELF4_ENST00000591282.1_Missense_Mutation_p.H363N	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	363					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.H363N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GGGTAGGGGTGGATGCCATTG	0.557000													22	72					1.9806e-07	2.87276e-07	0.002299	1	0
EDN3	1908	broad.mit.edu	37	20	57876513	57876513	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr20:57876513C>T	ENST00000311585.7	+	2	471	c.101C>T	c.(100-102)tCc>tTc	p.S34F	EDN3_ENST00000371025.3_Missense_Mutation_p.S34F|EDN3_ENST00000371028.2_Missense_Mutation_p.S34F|EDN3_ENST00000337938.2_Missense_Mutation_p.S34F|EDN3_ENST00000395654.3_Missense_Mutation_p.S34F	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	34					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.S34F(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CGCGGCGTGTCCCAGGCCCCC	0.657000													78	31					0	0	0.003610	0	0
TIAM1	7074	broad.mit.edu	37	21	32559330	32559330	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr21:32559330T>A	ENST00000286827.3	-	15	3120	c.2649A>T	c.(2647-2649)ttA>ttT	p.L883F	TIAM1_ENST00000541036.1_Missense_Mutation_p.L823F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	883	PDZ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.L883F(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTTGGAAGCTAAACCGGTTT	0.438000													109	176					0	0	0.003610	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547132	37547132	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr20:37547132G>T	ENST00000299824.1	+	11	1716	c.1527G>T	c.(1525-1527)acG>acT	p.T509T	PPP1R16B_ENST00000373331.2_Silent_p.T467T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	509					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	p.T509T(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGGCCAGGACGGGCGAGAGTA	0.622000													22	21					5.26018e-13	8.70091e-13	0.001882	1	0
OR52E2	119678	broad.mit.edu	37	11	5080209	5080209	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:5080209G>C	ENST00000321522.2	-	1	648	c.649C>G	c.(649-651)Ctt>Gtt	p.L217V		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L217V(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACATAAGAAAGGGCAATGACT	0.408000													4	75					0	0	0.000602	0	0
FYCO1	79443	broad.mit.edu	37	3	46014653	46014653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:46014653C>A	ENST00000296137.2	-	6	671	c.466G>T	c.(466-468)Gag>Tag	p.E156*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E156*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	156	RUN.				transport	integral to membrane	metal ion binding|protein binding	p.E156*(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCAGTCAGCTCATAGAGTTGG	0.478000													45	56					3.7052e-28	7.30454e-28	0.003214	1	0
HNRNPUL1	11100	broad.mit.edu	37	19	41782090	41782090	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:41782090G>T	ENST00000392006.3	+	5	846	c.673G>T	c.(673-675)Gcc>Tcc	p.A225S	HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.A225S|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.A125S|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.A182S|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.A125S|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.A136S|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.A125S|HNRNPUL1_ENST00000594207.1_3'UTR	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	225	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	p.A225S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTTCAAGGTGGCCCGAGATCG	0.502000													38	95					2.87052e-16	5.02341e-16	0.005524	1	0
SPIDR	23514	broad.mit.edu	37	8	48309124	48309124	+	Silent	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:48309124T>A	ENST00000297423.4	+	6	1098	c.714T>A	c.(712-714)ccT>ccA	p.P238P	SPIDR_ENST00000541342.1_Silent_p.P168P|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Silent_p.P178P	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair									p.P238P(1)									TGCATACACCTCAGAAACCCA	0.373000													11	474					0	0	0.001855	0	0
IDH1	3417	broad.mit.edu	37	2	209104696	209104696	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:209104696C>A	ENST00000415913.1	-	8	1263	c.882G>T	c.(880-882)gtG>gtT	p.V294V	IDH1_ENST00000446179.1_Silent_p.V294V|IDH1_ENST00000345146.2_Silent_p.V294V			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	294					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.V294V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GACAAACCAGCACGCTGGTCA	0.542000			Mis		gliobastoma								25	61					5.61819e-17	9.97641e-17	0.005443	1	0
GIMAP1	170575	broad.mit.edu	37	7	150417162	150417162	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:150417162C>A	ENST00000307194.5	+	3	210	c.70C>A	c.(70-72)Cag>Aag	p.Q24K		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1									p.Q24K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGTCCCGGCAGGAGTCCAC	0.532000													82	219					5.10314e-47	1.05786e-46	0.003610	1	0
STAG3	10734	broad.mit.edu	37	7	99809101	99809101	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:99809101C>A	ENST00000426455.1	+	31	3861	c.3454C>A	c.(3454-3456)Cca>Aca	p.P1152T	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.P1152T|STAG3_ENST00000394018.2_Missense_Mutation_p.P1094T|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1152					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.P1152T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTCTTGGGTCCACAATATTT	0.507000													33	121					9.80977e-26	1.91053e-25	0.004289	1	0
CPA2	1358	broad.mit.edu	37	7	129916550	129916550	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:129916550C>A	ENST00000222481.4	+	7	723	c.668C>A	c.(667-669)cCt>cAt	p.P223H		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	223					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	p.P221H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GTCACAAACCCTGATGGATAC	0.423000													30	93					5.60225e-13	9.23511e-13	0.001786	1	0
CASS4	57091	broad.mit.edu	37	20	55027049	55027049	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr20:55027049C>A	ENST00000371336.3	+	5	1018	c.817C>A	c.(817-819)Ccc>Acc	p.P273T	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.P273T	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	273					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.P273N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCACGCTCTCCCCAGTTCCAG	0.517000													37	176					1.47197e-15	2.54825e-15	0.007835	1	0
ABCA13	154664	broad.mit.edu	37	7	48314884	48314884	+	Nonsense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:48314884C>G	ENST00000435803.1	+	17	5645	c.5621C>G	c.(5620-5622)tCa>tGa	p.S1874*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1874					transport	integral to membrane	ATP binding|ATPase activity	p.S1819*(1)|p.S1874*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCACCATGTTCAAATGAAAGC	0.423000													9	69					0	0	0.006214	0	0
TRPM6	140803	broad.mit.edu	37	9	77353458	77353458	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:77353458C>A	ENST00000451710.3	-	35	5890	c.5653G>T	c.(5653-5655)Ggg>Tgg	p.G1885W	TRPM6_ENST00000360774.1_Missense_Mutation_p.G1881W|TRPM6_ENST00000376872.3_Missense_Mutation_p.G836W|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1876W|TRPM6_ENST00000376871.3_Missense_Mutation_p.G718W|TRPM6_ENST00000376864.4_Missense_Mutation_p.G1885W|TRPM6_ENST00000449912.2_Missense_Mutation_p.G1876W			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1881	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G1881W(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CGGAACTCCCCTGTCATATAC	0.468000													11	64					2.27111e-07	3.25503e-07	0.001368	1	0
A3GALT2	127550	broad.mit.edu	37	1	33778171	33778171	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:33778171G>T	ENST00000442999.3	-	3	127	c.128C>A	c.(127-129)cCc>cAc	p.P43H	RP11-415J8.3_ENST00000457957.2_RNA|RP11-415J8.3_ENST00000588828.1_RNA	NM_001080438.1	NP_001073907.1			alpha 1,3-galactosyltransferase 2									p.P43H(1)					Myeloproliferative disorder(586;0.0393)				GACGCCCATGGGGATGAGGGC	0.627000													5	77					8.12818e-05	0.000106973	0.001984	1	0
SLC45A1	50651	broad.mit.edu	37	1	8390292	8390292	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:8390292G>A	ENST00000471889.1	+	5	1124	c.739G>A	c.(739-741)Gtg>Atg	p.V247M	SLC45A1_ENST00000377479.2_Missense_Mutation_p.V281M|SLC45A1_ENST00000289877.8_Missense_Mutation_p.V247M			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	247					carbohydrate transport	integral to membrane	symporter activity	p.V247M(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTTTGGATACGTGGTCGGCGG	0.607000													5	75					0	0	0.000602	0	0
CLCN1	1180	broad.mit.edu	37	7	143043748	143043748	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:143043748C>A	ENST00000343257.2	+	19	2448	c.2361C>A	c.(2359-2361)acC>acA	p.T787T		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	787					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.T787T(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGAAAACAACCCAGGTGAGAG	0.547000													26	93					1.32003e-05	1.7564e-05	0.005443	1	0
FCGBP	8857	broad.mit.edu	37	19	40368642	40368642	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:40368642C>A	ENST00000221347.6	-	28	12713	c.12706G>T	c.(12706-12708)Gct>Tct	p.A4236S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4236	VWFD 10.					extracellular region	protein binding	p.A4236S(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATGGAGGGAGCCAGTGTGCCA	0.642000													15	203					1.50039e-11	2.4076e-11	0.001882	1	0
EMR3	84658	broad.mit.edu	37	19	14743801	14743801	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:14743801C>G	ENST00000253673.5	-	13	1675	c.1575G>C	c.(1573-1575)ttG>ttC	p.L525F	EMR3_ENST00000599900.1_Missense_Mutation_p.L310F|EMR3_ENST00000443157.2_Missense_Mutation_p.L399F|EMR3_ENST00000344373.4_Missense_Mutation_p.L473F	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	525					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L525F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TCCAAAAGACCAAGATAAACA	0.398000													12	37					0	0	0.002450	0	0
DNAH3	55567	broad.mit.edu	37	16	20996905	20996905	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:20996905C>T	ENST00000261383.3	-	48	7158	c.7159G>A	c.(7159-7161)Gtg>Atg	p.V2387M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2387					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V2387M(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCATGACCACAGTCAGCTGT	0.448000													8	142					0	0	0.003080	0	0
ABI3BP	25890	broad.mit.edu	37	3	100604424	100604424	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:100604424C>A	ENST00000471714.1	-	6	782	c.673G>T	c.(673-675)Gta>Tta	p.V225L	ABI3BP_ENST00000495063.1_Missense_Mutation_p.V225L|ABI3BP_ENST00000284322.5_Missense_Mutation_p.V225L			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	225						extracellular space		p.V225L(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTCCCATTTACTTTTTTACCT	0.303000													6	8					0.00198382	0.00249527	0.001984	1	0
ZNF644	84146	broad.mit.edu	37	1	91403192	91403192	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:91403192T>A	ENST00000370440.1	-	4	3755	c.3538A>T	c.(3538-3540)Atg>Ttg	p.M1180L	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.M1180L|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M1180L(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCTTCTCCCATCCTTTTATTT	0.353000													19	95					0	0	0.007413	0	0
INTS2	57508	broad.mit.edu	37	17	59967149	59967149	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr17:59967149A>G	ENST00000444766.3	-	15	2081	c.2006T>C	c.(2005-2007)tTa>tCa	p.L669S	INTS2_ENST00000251334.6_Missense_Mutation_p.L661S	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	669					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.L669S(1)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CAACTTACCTAAAGTCTTCGT	0.368000													7	11					0	0	0.001984	0	0
CASS4	57091	broad.mit.edu	37	20	55027050	55027050	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr20:55027050C>A	ENST00000371336.3	+	5	1019	c.818C>A	c.(817-819)cCc>cAc	p.P273H	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.P273H	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	273					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.P273N(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CACGCTCTCCCCAGTTCCAGC	0.517000													37	178					1.47197e-15	2.54825e-15	0.007835	1	0
TMEM184B	25829	broad.mit.edu	37	22	38620938	38620938	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr22:38620938T>A	ENST00000361906.3	-	8	1044	c.836A>T	c.(835-837)cAc>cTc	p.H279L	TMEM184B_ENST00000361684.4_Missense_Mutation_p.H279L	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	279						integral to membrane		p.H279L(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GCGGGCCGAGTGGATTTTGGG	0.632000													5	14					0	0	0.000602	0	0
OTOA	146183	broad.mit.edu	37	16	21698947	21698947	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:21698947C>G	ENST00000388958.3	+	7	614	c.613C>G	c.(613-615)Cgc>Ggc	p.R205G	OTOA_ENST00000286149.4_Missense_Mutation_p.R205G|OTOA_ENST00000388956.4_Missense_Mutation_p.R126G	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	205					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.R205G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCGGGACCTGCGCGAGGATGC	0.542000													7	17					0	0	0.001984	0	0
OR11H12	440153	broad.mit.edu	37	14	19378063	19378063	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:19378063C>A	ENST00000550708.1	+	1	542	c.470C>A	c.(469-471)gCc>gAc	p.A157D		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A157D(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCTCTGTGCCAAACTGGTC	0.468000													38	670					2.12129e-23	4.082e-23	0.003610	1	0
BEND6	221336	broad.mit.edu	37	6	56857338	56857338	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:56857338T>A	ENST00000370748.3	+	3	718	c.283T>A	c.(283-285)Ttg>Atg	p.L95M	BEND6_ENST00000370745.1_Missense_Mutation_p.L95M|BEND6_ENST00000370750.2_Missense_Mutation_p.L95M|BEND6_ENST00000370746.3_Missense_Mutation_p.L95M			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	95								p.L95M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TCGACAGTCTTTGGTCATGCT	0.353000													20	243					0	0	0.002299	0	0
FER1L6	654463	broad.mit.edu	37	8	124992922	124992922	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:124992922G>T	ENST00000522917.1	+	11	1487	c.1281G>T	c.(1279-1281)aaG>aaT	p.K427N	FER1L6_ENST00000399018.1_Missense_Mutation_p.K427N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	427						integral to membrane		p.K427N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGCCTTCCAAGGACAAAGACT	0.458000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	200					2.80697e-09	4.35938e-09	0.000978	1	0
AQP12B	653437	broad.mit.edu	37	2	241622061	241622061	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:241622061C>A	ENST00000407834.3	-	1	256	c.194G>T	c.(193-195)gGg>gTg	p.G65V		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	53						integral to membrane	transporter activity	p.G65V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CCCAAAGTCCCCAGCCCAGGG	0.701000													20	32					1.33834e-09	2.09196e-09	0.007413	1	0
VPS41	27072	broad.mit.edu	37	7	38783118	38783118	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:38783118G>A	ENST00000310301.4	-	24	2060	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	VPS41_ENST00000395969.2_Missense_Mutation_p.A644V	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	669					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	p.A669V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CATCTTCAGGGCACTTCGGCT	0.368000													4	103					0	0	0.000602	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030054	95030054	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:95030054C>A	ENST00000557004.1	+	2	656	c.235C>A	c.(235-237)Ccg>Acg	p.P79T	SERPINA4_ENST00000298841.5_Missense_Mutation_p.P79T|SERPINA4_ENST00000555095.1_Missense_Mutation_p.P79T|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	79					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.P79T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTTTTTCTCCCCGCTGAGCAT	0.612000													40	71					2.59497e-14	4.38241e-14	0.007835	1	0
WBP11P1	441818	broad.mit.edu	37	18	30091910	30091910	+	RNA	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr18:30091910A>G	ENST00000567636.1	+	0	285					NR_003558.1																						GAACAGAAGAACAAAAAACAG	0.423000													22	56					0	0	0.001882	0	0
ATL1	51062	broad.mit.edu	37	14	51058328	51058328	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:51058328G>A	ENST00000441560.2	+	5	974	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	ATL1_ENST00000358385.6_Missense_Mutation_p.A165T|ATL1_ENST00000357032.3_Missense_Mutation_p.A165T|ATL1_ENST00000354525.4_Missense_Mutation_p.A165T	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	165					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	p.A165T(1)		central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CACAGTATTTGCCCTTAGCAC	0.353000													20	61					0	0	0.001523	0	0
ZNF586	54807	broad.mit.edu	37	19	58287980	58287980	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:58287980C>A	ENST00000396154.2	+	2	279	c.106C>A	c.(106-108)Cag>Aag	p.Q36K	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000391702.3_5'UTR|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q36K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAATGAGGCTCAGAGATGCCT	0.468000													47	220					4.64027e-19	8.45754e-19	0.003610	1	0
UBE2Q1	55585	broad.mit.edu	37	1	154530853	154530853	+	Silent	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:154530853G>A	ENST00000292211.4	-	1	256	c.177C>T	c.(175-177)ttC>ttT	p.F59F	UBE2Q1_ENST00000497453.1_Intron	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	59							ATP binding|protein binding|ubiquitin-protein ligase activity	p.F59F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGCAATGCGGAAGCGCTCGT	0.781000													3	6					0	0	0.004672	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18905849	18905849	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:18905849G>A	ENST00000380548.4	+	27	5260	c.4921G>A	c.(4921-4923)Ggc>Agc	p.G1641S	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.G342S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1641						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.G1641S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACACGGGATGGCATCACCTT	0.527000													9	16					0	0	0.008291	0	0
ARF5	381	broad.mit.edu	37	7	127231284	127231284	+	Silent	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:127231284C>T	ENST00000000233.5	+	6	628	c.474C>T	c.(472-474)acC>acT	p.T158T	GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	158					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	p.T158T(1)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TCCAGGCCACCTGTGCCACCC	0.572000													13	25					0	0	0.002450	0	0
GABRA1	2554	broad.mit.edu	37	5	161317997	161317997	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:161317997T>A	ENST00000428797.2	+	9	1152	c.797T>A	c.(796-798)aTt>aAt	p.I266N	GABRA1_ENST00000444819.1_Missense_Mutation_p.I266N|GABRA1_ENST00000420560.1_Missense_Mutation_p.I266N|GABRA1_ENST00000023897.6_Missense_Mutation_p.I266N|GABRA1_ENST00000393943.4_Missense_Mutation_p.I266N|GABRA1_ENST00000437025.2_Missense_Mutation_p.I266N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	266					gamma-aminobutyric acid signaling pathway|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	p.I266N(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ATGACAGTGATTCTCTCACAA	0.413000													5	113					0	0	0.000602	0	0
MS4A14	84689	broad.mit.edu	37	11	60184410	60184410	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:60184410C>A	ENST00000300187.6	+	5	2246	c.1969C>A	c.(1969-1971)Cac>Aac	p.H657N	MS4A14_ENST00000395005.2_Missense_Mutation_p.H640N|MS4A14_ENST00000531787.1_Missense_Mutation_p.H545N|MS4A14_ENST00000531783.1_Missense_Mutation_p.H690N	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	657	Gln-rich.					integral to membrane	receptor activity	p.H657N(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTGGCAATTCCACAAAGGCAA	0.453000													34	85					1.62565e-12	2.66165e-12	0.002445	1	0
TTN	7273	broad.mit.edu	37	2	179592313	179592313	+	Splice_Site	SNP	T	T	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:179592313T>A	ENST00000589042.1	-	68	20216	c.19993_splice	c.e68+1	p.T6664_splice	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.T6347_splice|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site_p.T5420_splice|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6347	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T5420T(1)		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)			TTTGCACACCTGTCACAAGCA	0.378000													17	227					0	0	0.007413	0	0
NXF1	10482	broad.mit.edu	37	11	62571288	62571288	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:62571288G>A	ENST00000531709.2	-	2	304	c.191C>T	c.(190-192)gCc>gTc	p.A64V	NXF1_ENST00000531131.1_Intron|NXF1_ENST00000294172.2_Missense_Mutation_p.A64V|NXF1_ENST00000532297.1_Missense_Mutation_p.A64V|NXF1_ENST00000439713.2_Missense_Mutation_p.A64V	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	64	Interaction with THOC4.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	p.A64V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCATCCTGGGCATCACTCAT	0.483000													16	153					0	0	0.007413	0	0
NUP214	8021	broad.mit.edu	37	9	134073549	134073549	+	Silent	SNP	T	T	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr9:134073549T>C	ENST00000359428.5	+	29	4812	c.4668T>C	c.(4666-4668)tcT>tcC	p.S1556S	NUP214_ENST00000411637.2_Silent_p.S1546S|NUP214_ENST00000451030.1_Silent_p.S1557S|NUP214_ENST00000483497.2_Silent_p.S382S			P35658	NU214_HUMAN	nucleoporin 214kDa	1556	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.S1556S(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTGCAGCATCTAGTACTAGTC	0.562000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								3	88					0	0	0.004672	0	0
RBM10	8241	broad.mit.edu	37	X	47028898	47028898	+	Splice_Site	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chrX:47028898G>T	ENST00000377604.3	+	3	943		c.e3+1		RBM10_ENST00000329236.7_Splice_Site|RBM10_ENST00000345781.6_Splice_Site|RBM10_ENST00000468791.1_Splice_Site	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10						mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GAGTGCGGAGGTGAGGAGGGG	0.642000													4	4					2.56e-06	3.52274e-06	0.000248	1	0
TIGD4	201798	broad.mit.edu	37	4	153691222	153691222	+	Missense_Mutation	SNP	G	G	A	rs149761550	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr4:153691222G>A	ENST00000304337.2	-	2	1755	c.935C>T	c.(934-936)tCt>tTt	p.S312F		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	312	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.S312F(1)|p.S312Y(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ACATTTGGAAGATAAACATGA	0.348000													49	81					0	0	0.003610	0	0
CDKAL1	54901	broad.mit.edu	37	6	21065370	21065370	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:21065370G>C	ENST00000274695.4	+	12	1314	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q	CDKAL1_ENST00000378610.1_Missense_Mutation_p.E383Q|CDKAL1_ENST00000378624.4_Missense_Mutation_p.E313Q	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	383					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	p.E383Q(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			ACTTGTTGAAGAGTACAAATT	0.373000													26	71					0	0	0.005443	0	0
KRT6B	3854	broad.mit.edu	37	12	52843583	52843583	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:52843583G>C	ENST00000252252.3	-	4	918	c.871C>G	c.(871-873)Ctt>Gtt	p.L291V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	291	Coil 1B.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.L291V(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCATCTGTAAGAGTGTCTGCC	0.498000													6	148					0	0	0.001984	0	0
BCL6	604	broad.mit.edu	37	3	187447128	187447128	+	Silent	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:187447128G>T	ENST00000406870.2	-	5	1431	c.1065C>A	c.(1063-1065)atC>atA	p.I355I	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Silent_p.I355I|BCL6_ENST00000232014.4_Silent_p.I355I|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	355					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I355I(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AAGCCTGGAGGATGCAGGCAT	0.572000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								27	208					7.41945e-09	1.13047e-08	0.005443	1	0
SCN11A	11280	broad.mit.edu	37	3	38991610	38991610	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:38991610C>A	ENST00000450244.1	-	1	442	c.244G>T	c.(244-246)Gac>Tac	p.D82Y	SCN11A_ENST00000302328.3_Missense_Mutation_p.D82Y|SCN11A_ENST00000456224.3_Missense_Mutation_p.D82Y|SCN11A_ENST00000444237.2_Missense_Mutation_p.D82Y			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	82					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D82Y(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TAGAATGGGTCCAAGTCTTCC	0.552000													29	79					5.61819e-17	9.97641e-17	0.005443	1	0
NPY4R	5540	broad.mit.edu	37	10	47087519	47087519	+	Missense_Mutation	SNP	C	C	A	rs151042454	byFrequency	TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr10:47087519C>A	ENST00000374312.1	+	3	1155	c.736C>A	c.(736-738)Cgc>Agc	p.R246S	NPY4R_ENST00000395716.1_Missense_Mutation_p.R246S	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4									p.R246S(1)									GAGGCAGGGGCGCGTGTTTCA	0.592000													12	70					0.00010058	0.000132011	0.001368	1	0
PSG4	5672	broad.mit.edu	37	19	43698709	43698709	+	Silent	SNP	G	G	C	rs146368793		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:43698709G>C	ENST00000405312.3	-	5	1263	c.1026C>G	c.(1024-1026)acC>acG	p.T342T	PSG4_ENST00000433626.2_Silent_p.T249T|PSG4_ENST00000244295.9_Silent_p.T249T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	342	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region		p.T249T(1)|p.T342T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AACGGTAATAGGTGAATGAAG	0.488000													79	209					0	0	0.003610	0	0
KANK2	25959	broad.mit.edu	37	19	11303645	11303645	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr19:11303645C>A	ENST00000432929.2	-	4	1471	c.1111G>T	c.(1111-1113)Ggt>Tgt	p.G371C	KANK2_ENST00000355150.5_Missense_Mutation_p.G371C|KANK2_ENST00000589894.1_Missense_Mutation_p.G371C|KANK2_ENST00000589359.1_Missense_Mutation_p.G371C|KANK2_ENST00000586659.1_Missense_Mutation_p.G371C	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	371								p.G371C(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAGGCCTACCAGGCATTGCC	0.667000													17	42					5.3912e-06	7.33507e-06	0.006122	1	0
TARBP2	6895	broad.mit.edu	37	12	53899014	53899014	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:53899014G>A	ENST00000266987.2	+	7	1192	c.709G>A	c.(709-711)Gag>Aag	p.E237K	TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000394357.2_Missense_Mutation_p.E216K|TARBP2_ENST00000456234.2_Missense_Mutation_p.E216K	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	237	Sufficient for interaction with DICER1.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	p.E237K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GGATGGCAATGAGGTGGAGCC	0.602000													6	86					0	0	0.001984	0	0
PRDM10	56980	broad.mit.edu	37	11	129784679	129784679	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:129784679G>T	ENST00000358825.5	-	18	3004	c.2773C>A	c.(2773-2775)Cag>Aag	p.Q925K	PRDM10_ENST00000526082.1_Missense_Mutation_p.Q839K|PRDM10_ENST00000360871.3_Missense_Mutation_p.Q921K|PRDM10_ENST00000304538.6_Missense_Mutation_p.Q835K|PRDM10_ENST00000528746.1_Missense_Mutation_p.Q895K|PRDM10_ENST00000423662.2_Missense_Mutation_p.Q839K	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	925	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q921K(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGGATGTACTGAATTCTCTGG	0.562000													78	123					4.75426e-39	9.77151e-39	0.003610	1	0
RGS4	5999	broad.mit.edu	37	1	163039313	163039313	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:163039313G>C	ENST00000421743.2	+	2	490	c.330G>C	c.(328-330)ttG>ttC	p.L110F	RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_Missense_Mutation_p.L13F|RGS4_ENST00000531057.1_Missense_Mutation_p.L13F|RGS4_ENST00000527809.1_Intron|RGS4_ENST00000367909.6_Missense_Mutation_p.L13F	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	13	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.L110F(1)|p.L13F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CTTCTTGCTTGAGGAGGTAAG	0.428000											OREG0013952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	62					0	0	0.000602	0	0
RP1L1	94137	broad.mit.edu	37	8	10465877	10465877	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:10465877C>A	ENST00000382483.3	-	4	5954	c.5731G>T	c.(5731-5733)Gca>Tca	p.A1911S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1911					intracellular signal transduction			p.A1911S(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCTTTTCTGCCTCCGGGGCT	0.597000													8	268					0.000157383	0.000203797	0.003080	1	0
NLRP3	114548	broad.mit.edu	37	1	247592928	247592928	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:247592928T>G	ENST00000366497.2	+	5	2978	c.2198T>G	c.(2197-2199)cTc>cGc	p.L733R	NLRP3_ENST00000391828.3_Missense_Mutation_p.L733R|NLRP3_ENST00000366496.2_Missense_Mutation_p.L733R|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000336119.3_Missense_Mutation_p.L733R	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	790					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L733R(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGCCGGGGCCTCTTTTCAGTT	0.478000													4	186					0	0	0.000248	0	0
KRT35	3886	broad.mit.edu	37	17	39633867	39633867	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr17:39633867G>A	ENST00000246639.2	-	6	1165	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	KRT35_ENST00000393989.1_Missense_Mutation_p.R375W			Q92764	KRT35_HUMAN	keratin 35	375	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	p.R375W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TGGTTCTGCCGCTCCAGGTCA	0.652000													7	97					0	0	0.001984	0	0
ACTR1B	10120	broad.mit.edu	37	2	98277062	98277062	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:98277062C>A	ENST00000289228.5	-	3	377	c.161G>T	c.(160-162)gGg>gTg	p.G54V		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	54						centrosome|dynactin complex	ATP binding|protein binding	p.G54V(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GAAGAGGTCCCCCTCCAGGGC	0.607000													24	85					3.17567e-06	4.35752e-06	0.008361	1	0
TBC1D10A	83874	broad.mit.edu	37	22	30688782	30688782	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr22:30688782C>A	ENST00000215790.7	-	9	1273	c.1109G>T	c.(1108-1110)cGg>cTg	p.R370L	RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R377L|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R282L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	370						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.R370L(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTGCCAGCGCCGCAGCTGAAT	0.647000													3	22					0.004672	0.00577129	0.004672	1	0
ACSL6	23305	broad.mit.edu	37	5	131324551	131324551	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:131324551A>G	ENST00000379264.2	-	6	707	c.599T>C	c.(598-600)gTc>gCc	p.V200A	ACSL6_ENST00000431707.1_Missense_Mutation_p.V140A|ACSL6_ENST00000379249.3_Missense_Mutation_p.V175A|ACSL6_ENST00000379240.1_Missense_Mutation_p.V175A|ACSL6_ENST00000543479.1_Missense_Mutation_p.V175A|ACSL6_ENST00000296869.4_Missense_Mutation_p.V200A|ACSL6_ENST00000379255.1_Missense_Mutation_p.V140A|ACSL6_ENST00000379244.1_Missense_Mutation_p.V175A|ACSL6_ENST00000379272.2_Missense_Mutation_p.V175A|ACSL6_ENST00000357096.1_Missense_Mutation_p.V140A|ACSL6_ENST00000379246.1_Missense_Mutation_p.V186A|ACSL6_ENST00000544770.1_Missense_Mutation_p.V84A	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	175					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.V200A(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAGAGCGGGACCACCACCAT	0.597000													4	151					0	0	0.001168	0	0
PDE1C	5137	broad.mit.edu	37	7	31917643	31917643	+	Silent	SNP	A	A	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:31917643A>G	ENST00000396184.3	-	6	636	c.432T>C	c.(430-432)taT>taC	p.Y144Y	PDE1C_ENST00000396193.1_Silent_p.Y204Y|PDE1C_ENST00000321453.7_Silent_p.Y144Y|PDE1C_ENST00000396182.2_Silent_p.Y144Y|PDE1C_ENST00000396191.1_Silent_p.Y144Y	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	144					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.Y144Y(2)|p.Y204Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ATGTCCGTCTATACATTCTGA	0.348000													26	28					0	0	0.006320	0	0
PRR14	78994	broad.mit.edu	37	16	30667570	30667570	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:30667570G>A	ENST00000542965.2	+	11	2152	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	PRR14_ENST00000300835.4_Missense_Mutation_p.E566K			Q9BWN1	PRR14_HUMAN	proline rich 14	566								p.E566K(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCGGCTGGAGGAGCTAGATGC	0.642000													6	72					0	0	0.001168	0	0
DOPEY2	9980	broad.mit.edu	37	21	37623551	37623551	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr21:37623551G>C	ENST00000399151.3	+	22	5175	c.5090G>C	c.(5089-5091)aGa>aCa	p.R1697T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1697					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.R1697T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTGTGGAGCAGAAAGAAAGCC	0.418000													25	79					0	0	0.006320	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			15	16					8.60227e-14	1.44267e-13	0.004007	1	0
PLCL1	5334	broad.mit.edu	37	2	198949108	198949108	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:198949108G>T	ENST00000428675.1	+	2	1265	c.867G>T	c.(865-867)aaG>aaT	p.K289N	PLCL1_ENST00000437704.2_Missense_Mutation_p.K191N	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	289					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.K289N(1)|p.K191N(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAATCCAGAAGAGCAAGGAAA	0.403000													8	129					5.4927e-09	8.42214e-09	0.004482	1	0
TENM1	10178	broad.mit.edu	37	X	123787580	123787580	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chrX:123787580C>A	ENST00000422452.2	-	7	1285	c.1222G>T	c.(1222-1224)Gtc>Ttc	p.V408F	TENM1_ENST00000371130.3_Missense_Mutation_p.V408F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.V410F(1)									GTCTGCATGACCTGTGCACCA	0.398000													4	89					0.00116845	0.00147352	0.001168	1	0
GLCCI1	113263	broad.mit.edu	37	7	8110750	8110750	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:8110750A>T	ENST00000223145.5	+	6	1723	c.1166A>T	c.(1165-1167)gAt>gTt	p.D389V		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	389								p.D389V(1)		endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TTGCTCTATGATCGTGATAAA	0.443000													19	88					0	0	0.008871	0	0
ASTN1	460	broad.mit.edu	37	1	176927584	176927584	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:176927584G>T	ENST00000367654.2	-	10	1670	c.1657C>A	c.(1657-1659)Ccc>Acc	p.P553T	ASTN1_ENST00000367657.3_Missense_Mutation_p.P545T|ASTN1_ENST00000424564.2_Missense_Mutation_p.P545T|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.P545T			O14525	ASTN1_HUMAN	astrotactin 1	553					cell migration|neuron cell-cell adhesion	integral to membrane		p.P545T(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGCTGAGGGGCAACCACATG	0.557000													9	28					5.4927e-09	8.42214e-09	0.004482	1	0
HEATR1	55127	broad.mit.edu	37	1	236761272	236761272	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:236761272C>A	ENST00000366582.3	-	5	623	c.509G>T	c.(508-510)gGa>gTa	p.G170V	HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.G170V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	170					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.G170V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TAACGGCACTCCAGATTGCTG	0.378000													26	54					1.04121e-07	1.53794e-07	0.005443	1	0
HAS2	3037	broad.mit.edu	37	8	122641478	122641478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:122641478G>A	ENST00000303924.4	-	2	640	c.103C>T	c.(103-105)Cag>Tag	p.Q35*		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	35						integral to plasma membrane	hyaluronan synthase activity	p.Q35*(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGATAAACTGGTAGCCAACA	0.418000													8	149					0	0	0.003080	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554464	140554464	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:140554464C>A	ENST00000231137.3	+	1	2222	c.2048C>A	c.(2047-2049)tCg>tAg	p.S683*		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		683					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S683*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGCCAACTCGCTCACCGTC	0.706000													39	80					2.05212e-20	3.7831e-20	0.005524	1	0
CLDN20	49861	broad.mit.edu	37	6	155597138	155597138	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:155597138C>G	ENST00000367165.3	+	2	665	c.285C>G	c.(283-285)atC>atG	p.I95M	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	95					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.I95M(1)		endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		CTTTGGGGATCTGCACTTCCA	0.542000													3	75					0	0	0.004672	0	0
SHISA2	387914	broad.mit.edu	37	13	26620766	26620766	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr13:26620766G>A	ENST00000319420.3	-	2	828	c.773C>T	c.(772-774)cCc>cTc	p.P258L		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	258					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		p.P258L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						AGCTGTCATGGGCACAGAGTC	0.572000													20	52					0	0	0.008871	0	0
T	6862	broad.mit.edu	37	6	166571970	166571970	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:166571970C>T	ENST00000296946.2	-	9	1609	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	T_ENST00000366871.3_Missense_Mutation_p.A323T	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	381					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.A381T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTGTAGTGCGCGGGGGAGCCC	0.711000									Chordoma, Familial Clustering of				4	53					0	0	0.000248	0	0
CSF2RB	1439	broad.mit.edu	37	22	37333578	37333578	+	Silent	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr22:37333578C>A	ENST00000262825.5	+	14	1963	c.1746C>A	c.(1744-1746)gcC>gcA	p.A582A	CSF2RB_ENST00000403662.3_Silent_p.A576A|CSF2RB_ENST00000536485.1_Silent_p.A523A|CSF2RB_ENST00000406230.1_Silent_p.A582A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	576					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.A576A(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CGCCTGCCGCCTCCCACACAC	0.657000													5	22					0.00448238	0.00555126	0.004482	1	0
TRPC4	7223	broad.mit.edu	37	13	38320115	38320115	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr13:38320115G>T	ENST00000379705.3	-	3	1713	c.856C>A	c.(856-858)Ctt>Att	p.L286I	TRPC4_ENST00000358477.2_Missense_Mutation_p.L286I|TRPC4_ENST00000426868.2_Missense_Mutation_p.L286I|TRPC4_ENST00000447043.1_Missense_Mutation_p.L286I|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.L286I|TRPC4_ENST00000379673.2_Missense_Mutation_p.L286I|TRPC4_ENST00000355779.2_Missense_Mutation_p.L286I|TRPC4_ENST00000338947.5_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	286	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.L286I(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGTCTTGCAAGATCATTTCCA	0.388000													10	203					0.000673444	0.000855983	0.008291	1	0
LRRK1	79705	broad.mit.edu	37	15	101464888	101464888	+	Silent	SNP	G	G	C			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr15:101464888G>C	ENST00000388948.3	+	2	410	c.51G>C	c.(49-51)ccG>ccC	p.P17P	LRRK1_ENST00000532029.2_Silent_p.P17P|LRRK1_ENST00000284395.5_5'UTR	NM_024652.3	NP_078928.3	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	17					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P17P(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGTGGGGCCGGAGGAGTCAG	0.592000													12	29					0	0	0.002450	0	0
TPH1	7166	broad.mit.edu	37	11	18047172	18047172	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:18047172C>A	ENST00000250018.2	-	7	1442	c.880G>T	c.(880-882)Ggc>Tgc	p.G294C	TPH1_ENST00000341556.2_Missense_Mutation_p.G294C	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	294					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.G294C(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GAAGCCAAGCCAATTTCTTGG	0.453000													42	83					3.43241e-23	6.52699e-23	0.002222	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576531	158576532	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:158576531_158576532insTT	ENST00000361284.1	+	1	303_304	c.303_304insTT	c.(301-306)attcttfs	p.L102fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGCCCAGATGTTCTTTTCTGC	0.554													8	362	---	---	---	---					
LAD1	3898	broad.mit.edu	37	1	201355939	201355939	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr1:201355939delA	ENST00000391967.2	-	3	851	c.550delT	c.(550-552)ccfs	p.S184fs	LAD1_ENST00000367313.3_Frame_Shift_Del_p.S198fs	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	184						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TTTGGCATGGAGGACTTCTCC	0.562													57	135	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89103870	89103871	+	RNA	INS	-	-	T	rs140201706		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:89103870_89103871insT	ENST00000393525.3	+	0	4344_4345																											tctaaatGTAATTTTTTTTAAT	0.272													14	19	---	---	---	---					
MAP2	4133	broad.mit.edu	37	2	210560407	210560408	+	Frame_Shift_Ins	INS	-	-	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr2:210560407_210560408insT	ENST00000360351.4	+	7	4019_4020	c.3513_3514insT	c.(3511-3516)gtaaatfs	p.N1172fs	MAP2_ENST00000447185.1_Frame_Shift_Ins_p.N1168fs|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1172					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AATTGTCAGTGGAAATACCTTG	0.441													26	63	---	---	---	---					
LPHN3	23284	broad.mit.edu	37	4	62453151	62453152	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr4:62453151_62453152delTC	ENST00000512091.1	+	4	1009_1010	c.262_263delTC	c.(262-264)tfs	p.S88fs	LPHN3_ENST00000514591.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000507164.1_Frame_Shift_Del_p.S156fs|LPHN3_ENST00000506746.1_Frame_Shift_Del_p.S156fs|LPHN3_ENST00000506700.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000511324.1_Frame_Shift_Del_p.S156fs|LPHN3_ENST00000514996.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000508693.1_Frame_Shift_Del_p.S156fs|LPHN3_ENST00000514157.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000509896.1_Frame_Shift_Del_p.S156fs|LPHN3_ENST00000504896.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000508946.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000545650.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000506720.1_Frame_Shift_Del_p.S156fs|LPHN3_ENST00000507625.1_Frame_Shift_Del_p.S156fs			Q9HAR2	LPHN3_HUMAN	latrophilin 3	88	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TAAGATTATGTCTCAAAGGTAT	0.361													8	25	---	---	---	---					
TGFBI	7045	broad.mit.edu	37	5	135379758	135379758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:135379758delA	ENST00000442011.2	+	3	406	c.245delA	c.(244-246)tcfs	p.Y82fs	TGFBI_ENST00000305126.8_Frame_Shift_Del_p.Y82fs|TGFBI_ENST00000504185.1_3'UTR	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	82	EMI.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCATCAGCTACGAGTGCTGT	0.537													39	160	---	---	---	---					
PCDHGA2	56113	broad.mit.edu	37	5	140720800	140720801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr5:140720800_140720801insA	ENST00000394576.2	+	1	2262_2263	c.2262_2263insA	c.(2260-2265)tcacgafs	p.R755fs	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCTATTCCCACGAGGTCTC	0.599													48	104	---	---	---	---					
MYO6	4646	broad.mit.edu	37	6	76572390	76572390	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr6:76572390delC	ENST00000369981.3	+	16	1903	c.1624delC	c.(1624-1626)acfs	p.H542fs	MYO6_ENST00000369985.4_Frame_Shift_Del_p.H542fs|MYO6_ENST00000369977.3_Frame_Shift_Del_p.H542fs|MYO6_ENST00000369975.1_Frame_Shift_Del_p.H542fs			Q9UM54	MYO6_HUMAN	myosin VI	542	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAGTGATCAACACTTTACATC	0.373													9	70	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1																						GGTCATGTAAGTTTTTTTTTTT	0.401													2	4	---	---	---	---					
SND1	27044	broad.mit.edu	37	7	127732042	127732046	+	Splice_Site	DEL	CAGCT	CAGCT	-	rs113048090		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:127732042_127732046delCAGCT	ENST00000354725.3	+	24	2861_2863	c.2667_splice	c.e24-1	p.S889_splice		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	889					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTTTTTCTTACAGCTGAACCTGTGG	0.571													18	284	---	---	---	---					
PTN	5764	broad.mit.edu	37	7	136936041	136936041	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr7:136936041delG	ENST00000348225.2	-	4	814	c.387delC	c.(385-387)gcfs	p.A129fs	PTN_ENST00000393083.2_Frame_Shift_Del_p.A129fs	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	129					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TCTGGCATTCGGCATTGTGCA	0.507													65	303	---	---	---	---					
PXDNL	137902	broad.mit.edu	37	8	52370103	52370103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:52370103delC	ENST00000356297.4	-	9	1037	c.937delG	c.(937-939)aafs	p.E313fs	PXDNL_ENST00000543296.1_Frame_Shift_Del_p.E313fs	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	313	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTCTTGGCTTCCCCAGCGGAA	0.428													47	152	---	---	---	---					
LINC00535	642924	broad.mit.edu	37	8	94658310	94658310	+	RNA	DEL	G	G	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr8:94658310delG	ENST00000501400.1	-	0	948					NR_033858.1																						ATACACACCAGGGAGAAGGGT	0.507													9	23	---	---	---	---					
ANKRD20A1	84210	broad.mit.edu	37	9	67934791	67934794	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr9:67934791_67934794delAAAG	ENST00000377477.2	+	4	673_676	c.561_564delAAAG	c.(559-564)aafs	p.KK187fs		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						TTTTATTGAAAAAGAAAGCAAGTT	0.309													2	4	---	---	---	---					
NLRP10	338322	broad.mit.edu	37	11	7981515	7981515	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:7981515delA	ENST00000328600.2	-	2	1805	c.1644delT	c.(1642-1644)ttfs	p.F548fs		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	548							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTGTTCTTTAAAATGCTTCA	0.393													26	106	---	---	---	---					
ARAP1	116985	broad.mit.edu	37	11	72422487	72422487	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:72422487delA	ENST00000359373.5	-	8	1931	c.1080delT	c.(1078-1080)ttfs	p.F360fs	ARAP1_ENST00000455638.2_Frame_Shift_Del_p.F360fs|ARAP1_ENST00000334211.8_Frame_Shift_Del_p.F115fs|ARAP1_ENST00000393605.3_Frame_Shift_Del_p.F120fs|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.F360fs|ARAP1_ENST00000429686.1_Frame_Shift_Del_p.F115fs|ARAP1_ENST00000426523.1_Frame_Shift_Del_p.F115fs			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	360	PH 1.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGTTACTGTCAAAGTATCGCA	0.567													37	106	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118380757	118380758	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr11:118380757_118380758insA	ENST00000534358.1	+	30	11018_11019	c.10995_10996insA	c.(10993-10998)gaaaaafs	p.EK3665fs	KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.EK3662fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.EK3624fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GCATTACTGAGAAAAAACCCAA	0.396													40	85	---	---	---	---					
MYO1H	283446	broad.mit.edu	37	12	109845649	109845649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr12:109845649delG	ENST00000310903.5	+	10	1144	c.1038delG	c.(1036-1038)atfs	p.M346fs	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Frame_Shift_Del_p.M346fs			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GAGATGCAATGGCAAAGGCTG	0.443													33	88	---	---	---	---					
POSTN	10631	broad.mit.edu	37	13	38148759	38148759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e202283d-04a1-4fbc-9e8e-8b5abae14385	g.chr13:38148759delG	ENST00000379747.4	-	17	2156	c.2039delC	c.(2038-2040)cafs	p.P680fs	POSTN_ENST00000379742.4_Intron|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000379743.4_Intron|POSTN_ENST00000379749.4_Frame_Shift_Del_p.P680fs	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	680					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTTAATTTTTGGTTCCACAAC	0.269													10	28	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576531	158576532	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:158576531_158576532insTT	ENST00000361284.1	+	1	303_304	c.303_304insTT	c.(301-306)attcttfs	p.L102fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGCCCAGATGTTCTTTTCTGC	0.554													8	362	---	---	---	---					
LAD1	3898	broad.mit.edu	37	1	201355939	201355939	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr1:201355939delA	ENST00000391967.2	-	3	851	c.550delT	c.(550-552)ccfs	p.S184fs	LAD1_ENST00000367313.3_Frame_Shift_Del_p.S198fs	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	184						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TTTGGCATGGAGGACTTCTCC	0.562													57	135	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89103870	89103871	+	RNA	INS	-	-	T	rs140201706		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:89103870_89103871insT	ENST00000393525.3	+	0	4344_4345																											tctaaatGTAATTTTTTTTAAT	0.272													14	19	---	---	---	---					
GLS	2744	broad.mit.edu	37	2	191745926	191745926	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:191745926delG	ENST00000320717.3	+	1	374	c.116delG	c.(115-117)cafs	p.R39fs	GLS_ENST00000338435.4_Frame_Shift_Del_p.R39fs|AC005540.3_ENST00000413911.1_RNA	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	39					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CGGCGTCCCCGAggcggggga	0.826													2	4	---	---	---	---					
MAP2	4133	broad.mit.edu	37	2	210560407	210560408	+	Frame_Shift_Ins	INS	-	-	T			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr2:210560407_210560408insT	ENST00000360351.4	+	7	4019_4020	c.3513_3514insT	c.(3511-3516)gtaaatfs	p.N1172fs	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Frame_Shift_Ins_p.N1168fs	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1172					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AATTGTCAGTGGAAATACCTTG	0.441													26	63	---	---	---	---					
FLJ46066	401103	broad.mit.edu	37	3	182178994	182178995	+	RNA	INS	-	-	T	rs75574269		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr3:182178994_182178995insT	ENST00000496220.1	-	0	251					NR_040105.1																						ttactctacacttttttttttt	0.431													2	4	---	---	---	---					
LPHN3	23284	broad.mit.edu	37	4	62453151	62453152	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr4:62453151_62453152delTC	ENST00000512091.1	+	4	1009_1010	c.262_263delTC	c.(262-264)tfs	p.S88fs	LPHN3_ENST00000514996.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000545650.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000508693.1_Frame_Shift_Del_p.S156fs|LPHN3_ENST00000506700.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000514591.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000504896.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000514157.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000507164.1_Frame_Shift_Del_p.S156fs|LPHN3_ENST00000506746.1_Frame_Shift_Del_p.S156fs|LPHN3_ENST00000506720.1_Frame_Shift_Del_p.S156fs|LPHN3_ENST00000507625.1_Frame_Shift_Del_p.S156fs|LPHN3_ENST00000508946.1_Frame_Shift_Del_p.S88fs|LPHN3_ENST00000511324.1_Frame_Shift_Del_p.S156fs|LPHN3_ENST00000509896.1_Frame_Shift_Del_p.S156fs			Q9HAR2	LPHN3_HUMAN	latrophilin 3	88	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TAAGATTATGTCTCAAAGGTAT	0.361													8	25	---	---	---	---					
TGFBI	7045	broad.mit.edu	37	5	135379758	135379758	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:135379758delA	ENST00000442011.2	+	3	406	c.245delA	c.(244-246)tcfs	p.Y82fs	TGFBI_ENST00000504185.1_3'UTR|TGFBI_ENST00000305126.8_Frame_Shift_Del_p.Y82fs	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	82	EMI.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCATCAGCTACGAGTGCTGT	0.537													39	160	---	---	---	---					
PCDHGA2	56113	broad.mit.edu	37	5	140720800	140720801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr5:140720800_140720801insA	ENST00000394576.2	+	1	2262_2263	c.2262_2263insA	c.(2260-2265)tcacgafs	p.R755fs	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCTATTCCCACGAGGTCTC	0.599													48	104	---	---	---	---					
MYO6	4646	broad.mit.edu	37	6	76572390	76572390	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr6:76572390delC	ENST00000369981.3	+	16	1903	c.1624delC	c.(1624-1626)acfs	p.H542fs	MYO6_ENST00000369985.4_Frame_Shift_Del_p.H542fs|MYO6_ENST00000369975.1_Frame_Shift_Del_p.H542fs|MYO6_ENST00000369977.3_Frame_Shift_Del_p.H542fs			Q9UM54	MYO6_HUMAN	myosin VI	542	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAGTGATCAACACTTTACATC	0.373													9	70	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1																						GGTCATGTAAGTTTTTTTTTTT	0.401													2	4	---	---	---	---					
SND1	27044	broad.mit.edu	37	7	127732042	127732046	+	Splice_Site	DEL	CAGCT	CAGCT	-	rs113048090		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:127732042_127732046delCAGCT	ENST00000354725.3	+	24	2861_2863	c.2667_splice	c.e24-1	p.S889_splice		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	889					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTTTTTCTTACAGCTGAACCTGTGG	0.571													18	284	---	---	---	---					
PTN	5764	broad.mit.edu	37	7	136936041	136936041	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr7:136936041delG	ENST00000348225.2	-	4	814	c.387delC	c.(385-387)gcfs	p.A129fs	PTN_ENST00000393083.2_Frame_Shift_Del_p.A129fs	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	129					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TCTGGCATTCGGCATTGTGCA	0.507													65	303	---	---	---	---					
PXDNL	137902	broad.mit.edu	37	8	52370103	52370103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:52370103delC	ENST00000356297.4	-	9	1037	c.937delG	c.(937-939)aafs	p.E313fs	PXDNL_ENST00000543296.1_Frame_Shift_Del_p.E313fs	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	313	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTCTTGGCTTCCCCAGCGGAA	0.428													47	152	---	---	---	---					
LINC00535	642924	broad.mit.edu	37	8	94658310	94658310	+	RNA	DEL	G	G	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr8:94658310delG	ENST00000501400.1	-	0	948					NR_033858.1																						ATACACACCAGGGAGAAGGGT	0.507													9	23	---	---	---	---					
NLRP10	338322	broad.mit.edu	37	11	7981515	7981515	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:7981515delA	ENST00000328600.2	-	2	1805	c.1644delT	c.(1642-1644)ttfs	p.F548fs		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	548							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTGTTCTTTAAAATGCTTCA	0.393													26	106	---	---	---	---					
ARAP1	116985	broad.mit.edu	37	11	72422487	72422487	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:72422487delA	ENST00000359373.5	-	8	1931	c.1080delT	c.(1078-1080)ttfs	p.F360fs	ARAP1_ENST00000429686.1_Frame_Shift_Del_p.F115fs|ARAP1_ENST00000426523.1_Frame_Shift_Del_p.F115fs|ARAP1_ENST00000334211.8_Frame_Shift_Del_p.F115fs|ARAP1_ENST00000393605.3_Frame_Shift_Del_p.F120fs|ARAP1_ENST00000455638.2_Frame_Shift_Del_p.F360fs|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.F360fs			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	360	PH 1.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGTTACTGTCAAAGTATCGCA	0.567													37	106	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118380757	118380758	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr11:118380757_118380758insA	ENST00000534358.1	+	30	11018_11019	c.10995_10996insA	c.(10993-10998)gaaaaafs	p.EK3665fs	KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.EK3662fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.EK3624fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GCATTACTGAGAAAAAACCCAA	0.396													40	85	---	---	---	---					
LOC100507377	100507377	broad.mit.edu	37	12	74669120	74669120	+	RNA	DEL	T	T	-	rs35644413		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:74669120delT	ENST00000515416.2	-	0	464				RP11-274M17.3_ENST00000552046.1_RNA																							TTTTTTGGGGTTTTTTTTTTT	0.308													8	4	---	---	---	---					
RP11-114H23.1	0	broad.mit.edu	37	12	76082490	76082491	+	RNA	INS	-	-	T	rs141632958		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:76082490_76082491insT	ENST00000552856.1	-	0	401																											cattctTTTTCTTTTTTTTTTT	0.361													5	3	---	---	---	---					
MYO1H	283446	broad.mit.edu	37	12	109845649	109845649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr12:109845649delG	ENST00000310903.5	+	10	1144	c.1038delG	c.(1036-1038)atfs	p.M346fs	MYO1H_ENST00000431443.2_Frame_Shift_Del_p.M346fs|MYO1H_ENST00000542883.1_3'UTR			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GAGATGCAATGGCAAAGGCTG	0.443													33	88	---	---	---	---					
POSTN	10631	broad.mit.edu	37	13	38148759	38148759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr13:38148759delG	ENST00000379747.4	-	17	2156	c.2039delC	c.(2038-2040)cafs	p.P680fs	POSTN_ENST00000379749.4_Frame_Shift_Del_p.P680fs|POSTN_ENST00000379743.4_Intron|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000541481.1_Intron	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	680					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTTAATTTTTGGTTCCACAAC	0.269													10	28	---	---	---	---					
COL4A1	1282	broad.mit.edu	37	13	110864792	110864792	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr13:110864792delG	ENST00000375820.4	-	6	480	c.359delC	c.(358-360)cafs	p.P120fs	COL4A1_ENST00000543140.1_Frame_Shift_Del_p.P120fs	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	120					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.P120Q(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGAATACCTGGGGGGCCTGG	0.453													58	235	---	---	---	---					
SRP54-AS1	100506157	broad.mit.edu	37	14	35390295	35390296	+	RNA	INS	-	-	TT	rs113610910		TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr14:35390295_35390296insTT	ENST00000556355.1	-	0	524																											CACATATTGCAttttttttttt	0.436													3	3	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32095553	32095553	+	RNA	DEL	G	G	-			TCGA-91-6828-01A-11D-1855-08	TCGA-91-6828-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99f819f2-4340-4303-8ff0-fdb03ef0151a	e2fc8ce5-8f29-40bb-ac8c-d3eada97c1af	g.chr16:32095553delG	ENST00000566806.1	-	0	499																											CTGGGGCCCCGAGGGAGATGT	0.642													2	4	---	---	---	---					
