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
NXPH2	11249	broad.mit.edu	37	2	139428724	139428724	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:139428724C>A	ENST00000272641.3	-	2	669	c.563G>T	c.(562-564)cGc>cTc	p.R188L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	188	V (Cys-rich).				neuropeptide signaling pathway	extracellular region		p.R188H(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ATACTCAATGCGACAATTGAA	0.478000													7	42					8.12818e-05	8.63807e-05	1	1	0
SCRIB	23513	broad.mit.edu	37	8	144887128	144887128	+	Silent	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr8:144887128C>A	ENST00000356994.2	-	20	2733	c.2727G>T	c.(2725-2727)ctG>ctT	p.L909L	SCRIB_ENST00000377533.3_Silent_p.L828L|SCRIB_ENST00000320476.3_Silent_p.L909L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	909	Interaction with ARHGEF7.|PDZ 2.				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			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)			CGCCAACCTGCAGTGTGCCCG	0.731000													6	10					3.59834e-05	3.85249e-05	1	1	0
BRCA1	672	broad.mit.edu	37	17	41244550	41244550	+	Missense_Mutation	SNP	C	C	G	rs80357124		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:41244550C>G	ENST00000309486.4	-	9	3137	c.2110G>C	c.(2110-2112)Gag>Cag	p.E704Q	BRCA1_ENST00000354071.3_Missense_Mutation_p.E1000Q|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E953Q|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E1000Q|BRCA1_ENST00000346315.3_Missense_Mutation_p.E1000Q|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.E1000Q|BRCA1_ENST00000586385.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1000					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.E1000Q(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AAGTTTTCCTCTAGCAGATTT	0.343000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			8	155					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129945750	129945750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:129945750C>A	ENST00000222482.4	+	6	609	c.581C>A	c.(580-582)aCg>aAg	p.T194K	CPA4_ENST00000445470.2_Missense_Mutation_p.T161K|CPA4_ENST00000493259.1_Missense_Mutation_p.T90K	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	194					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.T194K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GCAATCTGGACGGCAAGGAAG	0.632000													20	111					6.33239e-15	7.76054e-15	1	1	0
ZNF354C	30832	broad.mit.edu	37	5	178506452	178506452	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr5:178506452G>A	ENST00000315475.6	+	5	1325	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R340K(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TTCAACTGTAGAGCAAAACTT	0.428000													22	349					0	0	1	0	0
LINC01420	550643	broad.mit.edu	37	X	56763924	56763924	+	RNA	SNP	T	T	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:56763924T>A	ENST00000374922.4	+	0	468					NR_015367.2																						TTAACCCCAGTTTATTGAATC	0.403000													7	60					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60584215	60584215	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr20:60584215C>T	ENST00000252996.3	-	5	1776	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	593	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.V593L(1)|p.V593M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CATTTCTTCACGTTTTCCATA	0.343000													9	46					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1565068	1565068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:1565068C>T	ENST00000378712.1	+	17	2561	c.2236C>T	c.(2236-2238)Caa>Taa	p.Q746*	MIB2_ENST00000504599.1_Silent_p.S885S|MIB2_ENST00000378708.1_Silent_p.S835S|MIB2_ENST00000378710.3_Silent_p.S893S|MIB2_ENST00000520777.1_Silent_p.S982S|MIB2_ENST00000518681.1_Silent_p.S921S|MIB2_ENST00000357210.4_Silent_p.S929S|MIB2_ENST00000360522.4_Silent_p.S894S|MIB2_ENST00000505820.2_Silent_p.S986S|MIB2_ENST00000355826.5_Silent_p.S972S	NM_001170689.1	NP_001164160.1	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	867					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGTCGTCAGCAAGAAACTGC	0.692000													7	45					0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546597	2546597	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:2546597G>A	ENST00000567020.1	+	2	588	c.448G>A	c.(448-450)Gag>Aag	p.E150K	RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.E150K|TBC1D24_ENST00000293970.5_Missense_Mutation_p.E150K|TBC1D24_ENST00000434757.2_Missense_Mutation_p.E150K	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	150	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CGACGAGGCCGAGTGCTTCGA	0.647000													3	63					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31515172	31515172	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr5:31515172C>T	ENST00000511367.2	-	7	1457	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	DROSHA_ENST00000344624.3_Missense_Mutation_p.E405K|DROSHA_ENST00000442743.1_Missense_Mutation_p.E368K|DROSHA_ENST00000513349.1_Missense_Mutation_p.E368K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	405					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.E405K(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGAAGTTCTTCTTCTTCCTCC	0.463000													12	146					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21014237	21014237	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:21014237C>T	ENST00000247986.2	-	8	1892	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	KIF17_ENST00000490034.1_Intron|KIF17_ENST00000400463.3_Missense_Mutation_p.E528K|KIF17_ENST00000375044.1_Missense_Mutation_p.E428K			Q9P2E2	KIF17_HUMAN	kinesin family member 17	528					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.E528K(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-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;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTGGAGGGTTCCACCTTGGGC	0.562000													22	141					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47308566	47308566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:47308566G>T	ENST00000377065.4	-	5	1242	c.603C>A	c.(601-603)aaC>aaA	p.N201K	ZNF41_ENST00000397050.2_Missense_Mutation_p.N211K|ZNF41_ENST00000313116.7_Missense_Mutation_p.N201K	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	243						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N201K(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GATTATGTGAGTTTAAAGTAT	0.328000													17	195					1.02788e-11	1.21324e-11	1	1	0
PPM1D	8493	broad.mit.edu	37	17	58725387	58725387	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:58725387C>G	ENST00000305921.3	+	4	1193	c.961C>G	c.(961-963)Cca>Gca	p.P321A		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	321	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.P321A(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GAATATGATTCCACCACAAGA	0.408000													24	102					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76779523	76779523	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:76779523G>A	ENST00000328299.3	+	2	200	c.52G>A	c.(52-54)Gcg>Acg	p.A18T		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	18					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.A18T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTTCATAGCAGCGTTCCTTTT	0.403000													19	128					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74524978	74524978	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:74524978C>A	ENST00000422840.2	-	8	1369	c.1370G>T	c.(1369-1371)cGa>cTa	p.R457L	GLG1_ENST00000447066.2_Missense_Mutation_p.R446L|GLG1_ENST00000205061.5_Missense_Mutation_p.R457L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	457						Golgi membrane|integral to membrane	receptor binding	p.R457L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCGCCCTTTTCGATGTAATCC	0.507000													28	133					1.75199e-13	2.12899e-13	1	1	0
MED1	5469	broad.mit.edu	37	17	37566052	37566052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:37566052G>A	ENST00000300651.6	-	17	2645	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	808	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R808*(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAAGAATCTCGAAGAGGGGTG	0.443000										HNSCC(31;0.082)			42	110					0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83984321	83984321	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr4:83984321G>C	ENST00000509093.1	+	7	1586	c.808G>C	c.(808-810)Gat>Cat	p.D270H	COPS4_ENST00000264389.2_Missense_Mutation_p.D270H|COPS4_ENST00000511653.1_Missense_Mutation_p.D270H|COPS4_ENST00000503682.1_Missense_Mutation_p.D270H	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	270	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding	p.D270H(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AATGTATCTAGATAGGATCAT	0.438000													10	72					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349436	103349436	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:103349436G>A	ENST00000357421.4	-	2	685	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	169					transport	integral to membrane|mitochondrial inner membrane		p.R169W(1)									AGTGACAGCCGCCCCCAAAGC	0.532000													34	227					0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9396492	9396492	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr18:9396492G>A	ENST00000262120.5	+	4	629	c.438G>A	c.(436-438)caG>caA	p.Q146Q	TWSG1_ENST00000581641.1_Silent_p.Q146Q	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	146										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CACACCACCAGAATGTGTCTG	0.443000													7	121					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95258704	95258704	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:95258704G>T	ENST00000344604.5	-	10	2142	c.1993C>A	c.(1993-1995)Ctt>Att	p.L665I	ECM2_ENST00000444490.2_Intron|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	665					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCAAGATGAAGATGTTCCAGA	0.333000													8	92					0.00448238	0.00457775	1	1	0
TTC25	83538	broad.mit.edu	37	17	40093098	40093098	+	RNA	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:40093098C>G	ENST00000591658.1	+	0	611							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding	p.L181L(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AGGCCTCGCTCAAGAGTGAGA	0.507000													26	179					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113105796	113105796	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:113105796G>A	ENST00000316851.7	+	13	1705	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.E578K|NCAM1_ENST00000533760.1_Missense_Mutation_p.E451K	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	579	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCTGAAGCCCGAAACAACGTA	0.547000													4	9					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422991	26422991	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr22:26422991T>A	ENST00000335473.7	+	43	7301	c.7051T>A	c.(7051-7053)Tgc>Agc	p.C2351S	MYO18B_ENST00000536101.1_Missense_Mutation_p.C2351S|MYO18B_ENST00000407587.2_Missense_Mutation_p.C2352S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2351						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.C2352S(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATTCAGTTCCTGCGAGTCCCT	0.562000													13	173					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904699	12904699	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:12904699G>T	ENST00000380659.3	+	3	1211	c.1072G>T	c.(1072-1074)Gca>Tca	p.A358S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	358					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.A358S(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GGTCTATCGTGCATCTATGAA	0.388000													25	150					8.24728e-16	1.01941e-15	1	1	0
NAT8	9027	broad.mit.edu	37	2	73868350	73868350	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:73868350G>A	ENST00000272425.3	-	2	555	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	136	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AGCTGCAACCGCTTCTCCCTC	0.582000													4	126					0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72545802	72545802	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr15:72545802G>A	ENST00000569795.1	-	16	1922	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	PARP6_ENST00000260376.7_Missense_Mutation_p.P412L|PARP6_ENST00000287196.9_Missense_Mutation_p.P412L|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	412	PARP catalytic.						NAD+ ADP-ribosyltransferase activity	p.P412>?(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ATGGGCCAGGGGATCCAACTT	0.488000													5	62					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59361700	59361700	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:59361700A>C	ENST00000263847.1	-	8	1819	c.1340T>G	c.(1339-1341)cTt>cGt	p.L447R		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	447	Sterol binding (By similarity).				lipid transport	Golgi membrane	oxysterol binding	p.L447R(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AAGGCGCTGAAGCATGGACAA	0.393000													13	80					0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062484	66062484	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:66062484G>A	ENST00000327259.4	+	2	911	c.767G>A	c.(766-768)cGc>cAc	p.R256H		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	256						integral to membrane		p.R256H(1)		central_nervous_system(1)|kidney(4)|lung(6)	11						CTGGAGGCGCGCGAGGGCATG	0.692000													6	30					0	0	1	0	0
PHKG2	5261	broad.mit.edu	37	16	30768316	30768316	+	Silent	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:30768316C>A	ENST00000563588.1	+	10	1358	c.1119C>A	c.(1117-1119)ctC>ctA	p.L373L	PHKG2_ENST00000328273.7_Silent_p.L377L|PHKG2_ENST00000424889.3_Intron	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	373					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	p.L373L(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			GGGCGGCTCTCTTTCAGCACC	0.612000													26	168					1.66031e-10	1.9281e-10	1	1	0
NIPBL	25836	broad.mit.edu	37	5	36985803	36985803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr5:36985803C>T	ENST00000282516.8	+	10	3020	c.2521C>T	c.(2521-2523)Cga>Tga	p.R841*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R841*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	841					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.R841*(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTCTAGGGTTCGAAGACCAGA	0.403000													9	107					0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45559743	45559743	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:45559743G>A	ENST00000544944.2	+	5	1107	c.415G>A	c.(415-417)Gat>Aat	p.D139N	CLASRP_ENST00000221455.3_Missense_Mutation_p.D139N|CLASRP_ENST00000391953.4_Missense_Mutation_p.D77N			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	139					mRNA processing|RNA splicing	nucleus		p.D139N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GATCTACATTGATGAGTTGTA	0.572000													12	115					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80629227	80629227	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr6:80629227C>T	ENST00000369816.4	-	5	879	c.579G>A	c.(577-579)gtG>gtA	p.V193V		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	193					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	p.V193V(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AGTACATAATCACATGGATAA	0.363000													8	73					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913582	77913582	+	Silent	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:77913582T>C	ENST00000321110.1	-	2	631	c.336A>G	c.(334-336)ccA>ccG	p.P112P		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	112	Pro-rich.						nucleic acid binding|zinc ion binding	p.P112P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CCAGGGACTCTGGGGCTGCTG	0.642000													3	45					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47569697	47569697	+	Silent	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:47569697C>A	ENST00000253048.5	-	15	3865	c.3828G>T	c.(3826-3828)ccG>ccT	p.P1276P	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1276							nucleic acid binding|zinc ion binding	p.P1276P(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCGCGGGCCGGACTGTTCC	0.637000													4	12					0.00909568	0.00922379	1	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C	rs142536398	by1000genomes	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:43587730A>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTATTGATTCATTTTATTCAT	0.343000													4	101					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14150265	14150265	+	Splice_Site	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:14150265C>A	ENST00000380959.3	-	5	1159		c.e5-1		NFIB_ENST00000397581.2_Splice_Site|NFIB_ENST00000397579.2_Splice_Site|NFIB_ENST00000397575.3_Splice_Site|NFIB_ENST00000543693.1_Splice_Site|NFIB_ENST00000380934.4_Splice_Site|NFIB_ENST00000380924.1_Splice_Site|NFIB_ENST00000380953.1_Splice_Site	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B						anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GTTATGGGCGCTGAGGAATAA	0.438000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								27	326					1.5548e-18	1.93845e-18	1	1	0
FUT3	2525	broad.mit.edu	37	19	5844225	5844225	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:5844225T>C	ENST00000303225.6	-	3	1260	c.626A>G	c.(625-627)tAc>tGc	p.Y209C	FUT3_ENST00000458379.2_Missense_Mutation_p.Y209C|FUT3_ENST00000589620.1_Missense_Mutation_p.Y209C|FUT3_ENST00000589918.1_Missense_Mutation_p.Y209C	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	209					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	p.Y209C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCTCTGGTAGTAGCGCACCCT	0.657000													13	124					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924124	227924124	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:227924124C>T	ENST00000396625.3	-	28	2587	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	COL4A4_ENST00000329662.7_Missense_Mutation_p.E794K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	794	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.E794K(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTCATACCTTCAGCCCCTGGA	0.517000													25	254					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49042348	49042348	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:49042348G>T	ENST00000343546.4	+	6	1310	c.942G>T	c.(940-942)ctG>ctT	p.L314L	P4HTM_ENST00000383729.4_Silent_p.L314L	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	314	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L314L(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GCGAGCCGCTGCAGGTTGTTC	0.637000													12	100					1.56452e-12	1.87743e-12	1	1	0
CNTN5	53942	broad.mit.edu	37	11	100169956	100169956	+	Silent	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:100169956T>C	ENST00000524871.1	+	20	2738	c.2448T>C	c.(2446-2448)aaT>aaC	p.N816N	CNTN5_ENST00000528682.1_Silent_p.N816N|CNTN5_ENST00000279463.3_Silent_p.N816N|CNTN5_ENST00000527185.1_Silent_p.N816N|CNTN5_ENST00000418526.2_Silent_p.N742N|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	816	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCAGACCCAATGGAACACGTG	0.398000													7	23					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486227	37486227	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr10:37486227C>G	ENST00000374660.1	+	34	2921	c.2822C>G	c.(2821-2823)tCt>tGt	p.S941C	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S822C|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S822C			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	996						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S822F(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGAAGCCATCTGCCTTCGAG	0.328000													7	275					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83640502	83640502	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:83640502G>A	ENST00000265362.3	-	8	1236	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	SEMA3A_ENST00000436949.1_Silent_p.L308L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	308	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.L308L(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTCTTACGCAGTTCATCAAAA	0.383000													14	99					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34514476	34514476	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:34514476C>G	ENST00000242317.4	+	17	1825	c.1654C>G	c.(1654-1656)Cac>Gac	p.H552D		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	552					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	p.H552D(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GAACCCATACCACACCAAGGT	0.572000									Kartagener syndrome				11	163					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164725726	164725726	+	Missense_Mutation	SNP	C	C	T	rs145734588	byFrequency	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:164725726C>T	ENST00000264382.3	-	36	4302	c.4240G>A	c.(4240-4242)Gaa>Aaa	p.E1414K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1414	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.E1414K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAATTTAGTTCGTCATTTCTG	0.264000										HNSCC(35;0.089)			10	100					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577081	7577081	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:7577081T>C	ENST00000420246.2	-	8	989	c.857A>G	c.(856-858)gAa>gGa	p.E286G	TP53_ENST00000445888.2_Missense_Mutation_p.E286G|TP53_ENST00000269305.4_Missense_Mutation_p.E286G|TP53_ENST00000359597.4_Missense_Mutation_p.E286G|TP53_ENST00000455263.2_Missense_Mutation_p.E286G|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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 by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGATTCTCTTCCTCTGTGCG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	62					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191367	152191367	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:152191367G>T	ENST00000368801.2	-	3	2813	c.2738C>A	c.(2737-2739)tCc>tAc	p.S913Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	913					keratinization		calcium ion binding|protein binding	p.S913Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCGACCGGAGCCAGACCC	0.637000													47	334					5.13769e-22	6.46137e-22	1	1	0
SLC26A9	115019	broad.mit.edu	37	1	205890767	205890767	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:205890767G>C	ENST00000367135.3	-	17	2095	c.1982C>G	c.(1981-1983)aCc>aGc	p.T661S	SLC26A9_ENST00000367134.2_Missense_Mutation_p.T661S|SLC26A9_ENST00000340781.4_Missense_Mutation_p.T661S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	661	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.T661S(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGTGTGGAAGGTGACGAAGGG	0.647000													6	20					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85576586	85576586	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:85576586C>T	ENST00000295802.4	-	5	1030	c.918G>A	c.(916-918)gtG>gtA	p.V306V	RETSAT_ENST00000457495.2_Silent_p.V245V|RETSAT_ENST00000263854.6_Silent_p.V306V	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	306					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.V306V(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CCCGCTGAATCACAGGGATGG	0.592000													16	107					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607000													7	75					1	1	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40702915	40702915	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr12:40702915G>T	ENST00000298910.7	+	30	4255	c.4197G>T	c.(4195-4197)gaG>gaT	p.E1399D		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1399	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.E1399D(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAGGTCGTGAGGAATTCTATA	0.368000													12	90					7.93312e-07	8.78746e-07	1	1	0
WDR59	79726	broad.mit.edu	37	16	74920199	74920199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:74920199G>A	ENST00000262144.6	-	24	2645	c.2515C>T	c.(2515-2517)Cga>Tga	p.R839*		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	839								p.R839*(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TCGCGTTCTCGCTCACGGGGA	0.547000													34	161					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40723661	40723661	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:40723661G>C	ENST00000309930.5	+	13	1141	c.1117G>C	c.(1117-1119)Gtc>Ctc	p.V373L	C7orf10_ENST00000335693.4_Intron|C7orf10_ENST00000401647.2_Intron	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	370							transferase activity	p.V373L(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						atagaacgctgtctctggctt	0.468000													8	65					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154940731	154940731	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:154940731G>A	ENST00000448116.2	-	5	973	c.753C>T	c.(751-753)atC>atT	p.I251I	SHC1_ENST00000368453.4_Silent_p.I141I|SHC1_ENST00000368445.5_Silent_p.I251I|SHC1_ENST00000368449.4_Silent_p.I22I|SHC1_ENST00000606391.1_Silent_p.I52I|SHC1_ENST00000368450.1_Silent_p.I141I	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	251	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.I141I(1)|p.I251I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTTGGCGATGATCTGAGAAT	0.567000													21	313					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149116	52149116	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:52149116G>T	ENST00000360844.6	-	3	660	c.619C>A	c.(619-621)Cat>Aat	p.H207N	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	207	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.H207N(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTGGTGCCATGGTCCTCGGGC	0.632000													10	65					1.58986e-06	1.75433e-06	1	1	0
PIH1D3	139212	broad.mit.edu	37	X	106466059	106466059	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:106466059C>T	ENST00000535523.1	+	6	754	c.417C>T	c.(415-417)tgC>tgT	p.C139C	PIH1D3_ENST00000372453.3_Silent_p.C139C|PIH1D3_ENST00000336387.4_Silent_p.C139C	NM_001169154.1	NP_001162625.1			PIH1 domain containing 3									p.C139C(1)									CAGGTTGTTGCAGTGAACTAG	0.358000													13	123					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203560	56203560	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr18:56203560C>G	ENST00000361673.3	-	5	4072	c.3859G>C	c.(3859-3861)Gaa>Caa	p.E1287Q	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1287							ATP binding|protein serine/threonine kinase activity	p.E1287Q(1)|p.E648Q(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGGGCCAATTCAGGCACAACA	0.507000													7	179					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84383358	84383358	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:84383358C>A	ENST00000260505.8	-	14	1893	c.1516G>T	c.(1516-1518)Gat>Tat	p.D506Y	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	506					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.D506Y(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCCAGAAGATCCAAAATATCT	0.328000													8	55					1.12685e-05	1.22005e-05	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7614359	7614359	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr10:7614359G>T	ENST00000397145.2	-	12	2140	c.2035C>A	c.(2035-2037)Cgt>Agt	p.R679S	ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000256861.6_Intron|ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Intron	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	679					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGAAGCCACGAACTGAAAAA	0.363000													16	34					2.62699e-14	3.20582e-14	1	1	0
MOGS	7841	broad.mit.edu	37	2	74690085	74690085	+	Silent	SNP	T	T	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:74690085T>G	ENST00000233616.4	-	4	993	c.831A>C	c.(829-831)gtA>gtC	p.V277V	MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.V171V|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	277					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	p.V277V(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCGACTCTTTACCATCTCTG	0.537000													38	245					0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	27003956	27003956	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr22:27003956C>T	ENST00000215939.2	-	4	459	c.329G>A	c.(328-330)cGc>cAc	p.R110H		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	110	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens	p.R110H(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CATCTCCCCGCGGAAGTTGGA	0.567000													7	110					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34575410	34575410	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr20:34575410C>G	ENST00000373973.3	+	7	983	c.810C>G	c.(808-810)atC>atG	p.I270M	CNBD2_ENST00000349339.1_Missense_Mutation_p.I270M|CNBD2_ENST00000538900.1_Missense_Mutation_p.I270M					cyclic nucleotide binding domain containing 2																		GGCAGCTGATCTCAAAAGATT	0.498000													3	50					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234358641	234358641	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:234358641G>C	ENST00000264057.2	+	16	1914	c.1902G>C	c.(1900-1902)caG>caC	p.Q634H	DGKD_ENST00000409813.3_Missense_Mutation_p.Q590H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	634					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	p.Q634H(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCGATGAGCAGAATGCCCAGA	0.632000													13	67					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36705386	36705386	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:36705386G>A	ENST00000264659.7	-	16	3247	c.3023C>T	c.(3022-3024)cCt>cTt	p.P1008L	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1042L	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	880					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CCGGCGGGGAGGGGGCGGTGG	0.657000													4	42					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618739	52618739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:52618739G>A	ENST00000600228.1	-	4	1939	c.1678C>T	c.(1678-1680)Caa>Taa	p.Q560*	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q560*(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CGTGAACATTGACTGAAGACC	0.438000													16	118					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													3	109					0	0	1	0	0
PALM2	114299	broad.mit.edu	37	9	112705636	112705636	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:112705636G>C	ENST00000448454.2	+	8	1173	c.1173G>C	c.(1171-1173)gaG>gaC	p.E391D	AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000374531.2_Missense_Mutation_p.E357D|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.E389D|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.E355D					paralemmin 2									p.E357D(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GGAAGGAAGAGAGCCTAGCTA	0.557000													6	136					0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70732859	70732859	+	Splice_Site	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:70732859C>G	ENST00000542342.2	-	7	711		c.e7-1		SLC39A11_ENST00000255559.3_Splice_Site	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.?(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCGAGACCCTCTGAAATAGAT	0.483000													21	168					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16459784	16459784	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:16459784C>T	ENST00000358432.5	-	11	2098	c.1944G>A	c.(1942-1944)ctG>ctA	p.L648L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	648	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGCCGGCTTTCAGCGTCTTGA	0.607000													12	138					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95258713	95258713	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:95258713G>C	ENST00000344604.5	-	10	2133	c.1984C>G	c.(1984-1986)Ctg>Gtg	p.L662V	ECM2_ENST00000444490.2_Intron|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	662					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AGATGTTCCAGATTTGAGTCA	0.328000													9	92					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58080588	58080588	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:58080588G>T	ENST00000357272.4	+	5	978	c.813G>T	c.(811-813)gtG>gtT	p.V271V	FLNB_ENST00000490882.1_Silent_p.V271V|FLNB_ENST00000429972.2_Silent_p.V271V|FLNB_ENST00000419752.2_Silent_p.V102V|FLNB_ENST00000358537.3_Silent_p.V271V|FLNB_ENST00000348383.5_Silent_p.V271V|FLNB_ENST00000295956.4_Silent_p.V271V|FLNB_ENST00000493452.1_Silent_p.V102V			O75369	FLNB_HUMAN	filamin B, beta	271					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.V271V(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAAACATGGTGAAGCAGCCAG	0.537000													38	313					1.07121e-22	1.35907e-22	1	1	0
RNF180	285671	broad.mit.edu	37	5	63509899	63509899	+	Missense_Mutation	SNP	A	A	T	rs142108516		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr5:63509899A>T	ENST00000389100.4	+	4	818	c.746A>T	c.(745-747)cAt>cTt	p.H249L	RNF180_ENST00000296615.6_Missense_Mutation_p.H249L|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	249						integral to membrane|nuclear envelope	zinc ion binding	p.H249L(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TATGAAATACATAGTAAGACT	0.358000													23	149					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24843425	24843425	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr6:24843425C>G	ENST00000259698.4	-	14	1760	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	FAM65B_ENST00000538035.1_Missense_Mutation_p.E508Q|FAM65B_ENST00000540914.1_Missense_Mutation_p.E479Q|FAM65B_ENST00000378023.4_Missense_Mutation_p.E479Q|FAM65B_ENST00000510784.2_Missense_Mutation_p.E513Q	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	529					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.E479Q(1)|p.E529Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AACAGGTGCTCAGCCCCAGCA	0.572000													21	116					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7079078	7079078	+	Splice_Site	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:7079078C>A	ENST00000299481.4	+	7	2808	c.2462_splice	c.e7+1	p.S821_splice		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	821					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.S821Y(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAGAGACTGTCGTGAGTGTTT	0.398000													12	110					1.08611e-07	1.22187e-07	1	1	0
RCC2	55920	broad.mit.edu	37	1	17755624	17755624	+	Silent	SNP	T	T	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:17755624T>A	ENST00000375436.4	-	3	544	c.357A>T	c.(355-357)cgA>cgT	p.R119R	RCC2_ENST00000375433.3_Silent_p.R119R	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	119					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		p.R119R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GCACTTCTTTTCGACCAATCA	0.443000													9	75					0	0	1	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59946062	59946062	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr14:59946062C>T	ENST00000247194.4	-	2	629	c.516G>A	c.(514-516)atG>atA	p.M172I	RP11-701B16.2_ENST00000554253.1_RNA|L3HYPDH_ENST00000487285.1_Start_Codon_SNP_p.M1I	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		GAACATCCACCATGAGATCTA	0.318000													6	77					0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13035487	13035487	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:13035487G>A	ENST00000588025.1	-	11	1421	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	FARSA_ENST00000314606.4_Silent_p.L387L|FARSA_ENST00000423140.2_Silent_p.L356L			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	387					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	p.L387L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GAACGCCCATGAGGTGGCCCA	0.637000													17	77					0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106694260	106694260	+	Silent	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:106694260C>A	ENST00000409944.1	+	5	448	c.217C>A	c.(217-219)Cga>Aga	p.R73R	C2orf40_ENST00000238044.3_Silent_p.R109R			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	109						extracellular region|transport vesicle		p.R109R(1)		lung(7)|urinary_tract(1)	8						TAACAGAGATCGAAATGGACA	0.453000													18	114					3.32936e-07	3.71649e-07	1	1	0
GBP6	163351	broad.mit.edu	37	1	89846103	89846103	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:89846103C>T	ENST00000370456.4	+	6	877	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	GBP6_ENST00000535065.1_Nonsense_Mutation_p.Q132*	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	262							GTP binding|GTPase activity	p.Q262*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TCCCAAATTCCAGGAACAAAC	0.438000													15	56					0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607089	131607089	+	Silent	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr5:131607089C>A	ENST00000253754.3	+	5	664	c.600C>A	c.(598-600)ccC>ccA	p.P200P	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Silent_p.P200P	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	200							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCCGAGCCCGTGGCCGCGG	0.701000													6	42					0.217242	0.219529	1	1	0
DPPA5	340168	broad.mit.edu	37	6	74063075	74063075	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr6:74063075T>C	ENST00000370370.3	-	3	388	c.319A>G	c.(319-321)Aat>Gat	p.N107D		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	107					multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						TCGAGGGCATTCATGGCTTCG	0.527000													7	148					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348000													4	133					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580730	140580730	+	Silent	SNP	C	C	T	rs114264306	byFrequency	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr5:140580730C>T	ENST00000354757.3	+	1	1383	c.1383C>T	c.(1381-1383)cgC>cgT	p.R461R	PCDHB11_ENST00000536699.1_Silent_p.R96R	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		461	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.R461R(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTCCGCGAGAACAACA	0.592000													48	380					0	0	1	0	0
ZNF763	284390	broad.mit.edu	37	19	12087895	12087895	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:12087895G>T	ENST00000343949.5	+	2	210	c.55G>T	c.(55-57)Gag>Tag	p.E19*	ZNF763_ENST00000592625.1_Nonsense_Mutation_p.E16*|ZNF763_ENST00000538752.1_Nonsense_Mutation_p.E36*|ZNF763_ENST00000358987.3_Nonsense_Mutation_p.E16*|ZNF763_ENST00000591944.1_Nonsense_Mutation_p.E85*|ZNF763_ENST00000590798.1_Nonsense_Mutation_p.E36*|ZNF763_ENST00000545530.1_Intron	NM_001012753.1	NP_001012771.1			zinc finger protein 763									p.E18*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CTTCACCCAGGAGGAGTGGGC	0.507000													21	200					6.21321e-17	7.71295e-17	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43944770	43944770	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr12:43944770C>A	ENST00000389420.3	-	2	394	c.395G>T	c.(394-396)cGc>cTc	p.R132L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R132L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	132						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GACCTGGCCGCGGTAGAAGCA	0.652000													9	27					5.68852e-11	6.65974e-11	1	1	0
NPHP4	261734	broad.mit.edu	37	1	6029307	6029307	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:6029307G>A	ENST00000378156.4	-	4	557	c.292C>T	c.(292-294)Cac>Tac	p.H98Y	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	98					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGATGTGTGAAAATACAAG	0.562000													4	17					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139865753	139865753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:139865753C>T	ENST00000370532.2	-	1	970	c.779G>A	c.(778-780)tGg>tAg	p.W260*		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	260								p.W260*(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CTAGATCTTCCAGTCAATCAG	0.413000													24	185					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5138691	5138691	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr10:5138691G>C	ENST00000380554.3	+	2	826	c.174G>C	c.(172-174)gaG>gaC	p.E58D	AKR1C3_ENST00000605149.1_Missense_Mutation_p.E35D|AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000439082.2_5'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	58					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.E58D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ACAATAATGAGGAGCAGGTTG	0.438000													32	123					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763598	113763598	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:113763598C>T	ENST00000259211.6	+	2	469	c.58C>T	c.(58-60)Cat>Tat	p.H20Y		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	20					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.H20Y(1)		large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GGATATCAATCATCGGGTGTG	0.473000													12	131					0	0	1	0	0
SCML1	6322	broad.mit.edu	37	X	17762333	17762333	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:17762333C>G	ENST00000380043.3	+	2	355	c.27C>G	c.(25-27)atC>atG	p.I9M	SCML1_ENST00000398080.1_Intron|SCML1_ENST00000380045.3_Intron|SCML1_ENST00000380041.3_Missense_Mutation_p.I9M	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	9					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.I9M(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CCAGTGAAATCGATGTGGTTT	0.328000													16	121					0	0	1	0	0
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632000													5	23					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151884816	151884816	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:151884816A>C	ENST00000355193.2	-	32	4995	c.4777T>G	c.(4777-4779)Tct>Gct	p.S1593A	KMT2C_ENST00000262189.6_Missense_Mutation_p.S1593A					lysine (K)-specific methyltransferase 2C									p.S1593A(2)									TCAGGATAAGAGGATTGTGCA	0.388000													18	133					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58145430	58145430	+	Missense_Mutation	SNP	C	C	A	rs104894340		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr12:58145430C>A	ENST00000257904.6	-	2	436	c.71G>T	c.(70-72)cGt>cTt	p.R24L	CDK4_ENST00000312990.6_Missense_Mutation_p.R24L|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	24	Protein kinase.		R -> C (in CMM3; somatic and familial; generates a dominant oncogene resistant to inhibition by p16(INK4a); dbSNP:rs11547328).|R -> H (in CMM3).		cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.R24L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GTGGGGATCACGGGCCTTGTA	0.557000			Mis			melanoma			Hereditary Melanoma				9	96					1.76689e-08	2.00341e-08	1	1	0
POLG2	11232	broad.mit.edu	37	17	62492601	62492601	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:62492601C>T	ENST00000539111.2	-	1	553	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	162					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	p.L162L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GTTCCTTACTCAGCTCTTTGT	0.473000													24	204					0	0	1	0	0
PPM1J	333926	broad.mit.edu	37	1	113253122	113253122	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:113253122C>G	ENST00000464951.1	-	10	2120	c.712G>C	c.(712-714)Gac>Cac	p.D238H	PPM1J_ENST00000309276.6_Missense_Mutation_p.D444H|RP11-426L16.10_ENST00000471038.2_5'UTR|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G125A|PPM1J_ENST00000359994.4_Missense_Mutation_p.D238H			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	444	PP2C-like.							p.D444H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	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)		AGCACCCTGTCCACAGTGGCA	0.547000													15	105					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854698	88854698	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr6:88854698C>G	ENST00000537554.1	-	2	3858	c.296G>C	c.(295-297)gGg>gCg	p.G99A	CNR1_ENST00000369501.2_Missense_Mutation_p.G99A|CNR1_ENST00000468898.1_Missense_Mutation_p.G66A|CNR1_ENST00000549890.1_Missense_Mutation_p.G99A|CNR1_ENST00000369499.2_Missense_Mutation_p.G99A|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.G99A|CNR1_ENST00000428600.2_Missense_Mutation_p.G99A|CNR1_ENST00000549716.1_Missense_Mutation_p.G38A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	99					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.G99A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAAGTTCTCCCCACACTGGAT	0.532000													4	73					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196664163	196664163	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:196664163T>C	ENST00000312428.6	-	55	10310	c.10210A>G	c.(10210-10212)Aga>Gga	p.R3404G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3404	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R3404G(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CGTCCCAATCTGTTGATTATA	0.393000													12	133					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10442604	10442604	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:10442604C>T	ENST00000245503.5	-	14	1718	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	MYH2_ENST00000397183.2_Missense_Mutation_p.R445H|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.R445H	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	445	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R445H(3)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGGTTGATGCGGGCAACCAT	0.473000													4	240					0	0	1	0	0
MLANA	2315	broad.mit.edu	37	9	5892506	5892506	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:5892506G>T	ENST00000381477.3	+	2	192	c.32G>T	c.(31-33)gGt>gTt	p.G11V	MLANA_ENST00000381476.1_Missense_Mutation_p.G11V|MLANA_ENST00000381471.1_Missense_Mutation_p.G11V	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A	11						endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network	protein binding	p.G11V(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		TTCATCTATGGTTACCCCAAG	0.517000													10	69					2.27111e-07	2.54506e-07	1	1	0
OR4A5	81318	broad.mit.edu	37	11	51412143	51412143	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:51412143A>T	ENST00000319760.6	-	1	305	c.253T>A	c.(253-255)Tgt>Agt	p.C85S		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C85S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TTTTTATCACAGAATAAGCCT	0.438000													10	88					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375010	113375010	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:113375010G>C	ENST00000316407.4	-	7	5929	c.5519C>G	c.(5518-5520)tCa>tGa	p.S1840*	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.S1840*	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1840					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.S1840*(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTGATGTTCTGAGAGTGACCT	0.448000													10	135					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39728776	39728776	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr20:39728776C>G	ENST00000361337.2	+	12	1306	c.1056C>G	c.(1054-1056)aaC>aaG	p.N352K	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	352					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	p.N352K(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GGATTGCTAACTTCAAGATAG	0.428000			T	NUP98	AML*								12	71					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30972797	30972797	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:30972797C>T	ENST00000262519.8	+	4	1142	c.456C>T	c.(454-456)gtC>gtT	p.V152V		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	152	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.V152V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGAAACGGTCAAAAACCTCC	0.597000													17	131					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150883660	150883660	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:150883660C>T	ENST00000474524.1	+	10	1423	c.1385C>T	c.(1384-1386)aCg>aTg	p.T462M	MED12L_ENST00000422248.2_Missense_Mutation_p.T462M|MED12L_ENST00000273432.4_Missense_Mutation_p.T322M|MED12L_ENST00000309237.4_Missense_Mutation_p.T462M	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	462					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.T462M(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTTTGCACACGTTGGAAGTT	0.383000													22	153					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038823	75038823	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:75038823G>T	ENST00000326665.5	-	14	2789	c.2571C>A	c.(2569-2571)gaC>gaA	p.D857E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	857	Glu-rich.							p.D857E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTCCTATGGGGTCTGACCCCC	0.527000													28	181					4.22769e-11	4.9697e-11	1	1	0
CRX	1406	broad.mit.edu	37	19	48342693	48342693	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:48342693G>A	ENST00000221996.7	+	4	575	c.369G>A	c.(367-369)acG>acA	p.T123T	CRX_ENST00000539067.1_Silent_p.T123T|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	123					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T123T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		AGGCGGGCACGTCCCCAAGAC	0.667000													19	139					0	0	1	0	0
LEF1	51176	broad.mit.edu	37	4	109088908	109088908	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr4:109088908C>T	ENST00000379951.2	-	1	1204	c.16G>A	c.(16-18)Gga>Aga	p.G6R	LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000438313.2_Missense_Mutation_p.G6R|LEF1_ENST00000265165.1_Missense_Mutation_p.G6R	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	6	CTNNB1-binding (By similarity).|Poly-Gly.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.G6R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CCACCTCCTCCGGAGAGTTGG	0.647000													21	154					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135621051	135621051	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:135621051G>A	ENST00000356140.5	+	5	472	c.336G>A	c.(334-336)gtG>gtA	p.V112V	ACMSD_ENST00000392928.1_Silent_p.V54V|ACMSD_ENST00000283054.4_Silent_p.V54V|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	112					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	p.V112V(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		GGAGGTTCGTGGGTCTGGGGA	0.592000													11	107					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49042350	49042350	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:49042350A>C	ENST00000343546.4	+	6	1312	c.944A>C	c.(943-945)cAg>cCg	p.Q315P	P4HTM_ENST00000383729.4_Missense_Mutation_p.Q315P	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	315	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.Q315P(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GAGCCGCTGCAGGTTGTTCGA	0.637000													12	95					0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90034222	90034222	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr4:90034222G>A	ENST00000317005.2	+	1	255	c.97G>A	c.(97-99)Gtg>Atg	p.V33M		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	33	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.V33M(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAAACTTTCCGTGGTGTACGG	0.373000													18	111					0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10823252	10823252	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:10823252G>C	ENST00000250237.5	+	7	819	c.809G>C	c.(808-810)tGc>tCc	p.C270S		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	270					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	p.C270S(1)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTGGTAGTCTGCGTGGCTCTT	0.642000													22	283					0	0	1	0	0
NUDT11	55190	broad.mit.edu	37	X	51239057	51239057	+	Silent	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:51239057C>A	ENST00000375992.3	-	1	391	c.240G>T	c.(238-240)ctG>ctT	p.L80L		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	80	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.L80L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CGAAGACGCCCAGGAGCCGGC	0.617000										HNSCC(48;0.14)			10	104					2.80697e-09	3.23363e-09	1	1	0
FAM120C	54954	broad.mit.edu	37	X	54161289	54161289	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:54161289C>T	ENST00000375180.2	-	7	1647	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	FAM120C_ENST00000328235.4_Missense_Mutation_p.D531N	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	531								p.D531N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TTTGGCTCATCACCATCAGAG	0.463000													4	61					0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6636182	6636182	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:6636182T>C	ENST00000533371.1	-	11	1535	c.737A>G	c.(736-738)aAt>aGt	p.N246S	TPP1_ENST00000299427.6_Missense_Mutation_p.N489S			O14773	TPP1_HUMAN	tripeptidyl peptidase I	489					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.N489S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CCTGTGCTCATTGATCAAGGA	0.527000													61	201					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84245390	84245390	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr15:84245390G>T	ENST00000324537.5	+	9	1037	c.545G>T	c.(544-546)cGa>cTa	p.R182L	SH3GL3_ENST00000535412.1_Missense_Mutation_p.R174L|SH3GL3_ENST00000427482.2_Missense_Mutation_p.R174L|SH3GL3_ENST00000434347.1_Missense_Mutation_p.R182L			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	174	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.R182L(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AAAAAGAAACGAGTAGGTAAG	0.398000													7	60					0.000157383	0.000165425	1	1	0
TTN	7273	broad.mit.edu	37	2	179479392	179479392	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:179479392G>T	ENST00000589042.1	-	261	49073	c.48849C>A	c.(48847-48849)acC>acA	p.T16283T	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T7410T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.T7218T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.T14642T|TTN_ENST00000342992.6_Silent_p.T13715T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.T7343T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14642	Fibronectin type-III 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T13715T(2)|p.T7218T(1)|p.T7410T(1)|p.T7343T(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)			CAGGTTTTCCGGTTACGGTGG	0.433000													5	48					0.00116845	0.00120614	1	1	0
ANKRD7	56311	broad.mit.edu	37	7	117876197	117876197	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:117876197C>G	ENST00000357099.4	+	5	804	c.631C>G	c.(631-633)Caa>Gaa	p.Q211E	ANKRD7_ENST00000433239.1_Missense_Mutation_p.Q138E|ANKRD7_ENST00000417525.1_Missense_Mutation_p.Q138E|ANKRD7_ENST00000265224.4_Missense_Mutation_p.Q191E|ANKRD7_ENST00000477532.1_3'UTR			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	191					male gonad development			p.Q211E(1)|p.Q211*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						AGATAATTATCAAAGGTATAA	0.363000													21	80					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57063703	57063703	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:57063703C>T	ENST00000436936.1	+	9	2487	c.2262C>T	c.(2260-2262)ctC>ctT	p.L754L	NLRC5_ENST00000262510.6_Silent_p.L754L|NLRC5_ENST00000539144.1_Silent_p.L754L|NLRC5_ENST00000308149.7_Silent_p.L754L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	754					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	p.L754L(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACAACCAGCTCAGTGACCAGG	0.582000													10	42					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85680674	85680674	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr12:85680674G>T	ENST00000316824.3	+	3	730	c.575G>T	c.(574-576)cGt>cTt	p.R192L		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	192					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R192L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AAAAGGGAACGTTATGGCCAA	0.353000													11	79					4.68919e-08	5.29603e-08	1	1	0
POLR2A	5430	broad.mit.edu	37	17	7405004	7405004	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:7405004A>G	ENST00000322644.6	+	14	2704	c.2305A>G	c.(2305-2307)Atg>Gtg	p.M769V		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	769					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.M769V(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTTCAAGTCTATGGTCGTGTC	0.483000													19	81					0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47835779	47835779	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:47835779G>T	ENST00000396965.1	-	7	2057	c.1707C>A	c.(1705-1707)ccC>ccA	p.P569P	ZNF182_ENST00000305127.6_Silent_p.P569P|ZNF182_ENST00000376943.3_Silent_p.P550P	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P569P(1)|p.P550P(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGCATGCATAGGGTTTCTCTC	0.423000													14	92					4.3838e-07	4.87465e-07	1	1	0
CUBN	8029	broad.mit.edu	37	10	16996511	16996511	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr10:16996511C>A	ENST00000377833.4	-	32	4797	c.4732G>T	c.(4732-4734)Gcc>Tcc	p.A1578S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1578	CUB 10.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.A1578S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACGTCCTGGCAAGGCGGGAC	0.527000													32	101					3.69857e-22	4.67187e-22	1	1	0
BAIAP3	8938	broad.mit.edu	37	16	1392790	1392790	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:1392790T>A	ENST00000324385.5	+	13	1399	c.1241T>A	c.(1240-1242)cTg>cAg	p.L414Q	BAIAP3_ENST00000421665.2_Missense_Mutation_p.L343Q|BAIAP3_ENST00000426824.3_Missense_Mutation_p.L379Q|BAIAP3_ENST00000397488.2_Missense_Mutation_p.L396Q|BAIAP3_ENST00000397489.1_Missense_Mutation_p.L396Q|BAIAP3_ENST00000568887.1_Missense_Mutation_p.L351Q|BAIAP3_ENST00000562208.1_Missense_Mutation_p.L356Q	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	414					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.L414Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AGCCATCTGCTGCGGTTGGAG	0.672000													6	45					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55912864	55912864	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr10:55912864G>T	ENST00000373965.2	-	15	2195	c.1801C>A	c.(1801-1803)Cga>Aga	p.R601R	PCDH15_ENST00000320301.6_Silent_p.R594R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Silent_p.R594R|PCDH15_ENST00000373957.3_Silent_p.R572R|PCDH15_ENST00000409834.1_Silent_p.R205R|PCDH15_ENST00000395438.1_Silent_p.R594R|PCDH15_ENST00000373955.1_Silent_p.R594R|PCDH15_ENST00000414778.1_Silent_p.R599R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.R594R|PCDH15_ENST00000395432.2_Silent_p.R557R|PCDH15_ENST00000437009.1_Silent_p.R594R|PCDH15_ENST00000395433.1_Silent_p.R572R|PCDH15_ENST00000361849.3_Silent_p.R594R|PCDH15_ENST00000395445.1_Silent_p.R601R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	594	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R599R(2)|p.R594R(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATTACCTTCGCTCTGCAGGA	0.458000										HNSCC(58;0.16)			11	46					3.07112e-06	3.36305e-06	1	1	0
KALRN	8997	broad.mit.edu	37	3	124141758	124141758	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:124141758C>T	ENST00000360013.3	+	15	2763	c.2636C>T	c.(2635-2637)gCa>gTa	p.A879V	KALRN_ENST00000240874.3_Missense_Mutation_p.A879V|KALRN_ENST00000460856.1_Missense_Mutation_p.A879V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	879					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGCTCAATGCAGAGCAGACT	0.488000													12	94					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77373668	77373668	+	Splice_Site	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:77373668G>C	ENST00000373316.4	+	6	808		c.e6+1		PGK1_ENST00000442431.1_Splice_Site|PGK1_ENST00000537456.1_Splice_Site	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TCCTGGGCGGGTATGAAGAAC	0.478000													20	153					0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	645015	645015	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr18:645015G>A	ENST00000581619.1	+	8	2237	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	CLUL1_ENST00000540035.1_Missense_Mutation_p.E491K|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000338387.7_Missense_Mutation_p.E439K|CLUL1_ENST00000400606.2_Missense_Mutation_p.E439K|CLUL1_ENST00000579494.1_Missense_Mutation_p.E439K			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	439					cell death	extracellular region		p.E439K(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GATCCCTCTTGAAGAAAGTGC	0.393000													12	79					0	0	1	0	0
XBP1	7494	broad.mit.edu	37	22	29191414	29191414	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr22:29191414G>A	ENST00000344347.5	-	6	879	c.880C>T	c.(880-882)Cac>Tac	p.H294Y	XBP1_ENST00000403532.3_3'UTR|XBP1_ENST00000216037.6_3'UTR|XBP1_ENST00000405219.3_3'UTR			P17861	XBP1_HUMAN	X-box binding protein 1	0					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						AATTCAGGGTGATCATTCTCT	0.488000													4	10					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48677227	48677227	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:48677227G>A	ENST00000544264.1	-	35	10086	c.9806C>T	c.(9805-9807)tCa>tTa	p.S3269L	CELSR3_ENST00000164024.4_Missense_Mutation_p.S3264L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3264					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.S3264L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTGTGCTTGAAGATTGCAC	0.597000													23	210					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85066407	85066407	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:85066407C>T	ENST00000335459.5	-	3	915	c.710G>A	c.(709-711)cGc>cAc	p.R237H	TRABD2A_ENST00000409520.2_Missense_Mutation_p.R286H|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R286H	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		AGCAGTGATGCGCTCCTGAGG	0.453000													3	58					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399605	46399605	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:46399605G>A	ENST00000292301.4	+	2	1072	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	CCR2_ENST00000400888.2_Missense_Mutation_p.R196Q|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.R196Q	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	196					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	p.R196Q(2)		breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TATTTTCCACGAGGATGGAAT	0.458000													46	344					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49724892	49724892	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:49724892G>A	ENST00000449682.2	-	4	736	c.375C>T	c.(373-375)atC>atT	p.I125I	MST1_ENST00000383728.3_Silent_p.I50I|MST1_ENST00000545762.1_Intron|MST1_ENST00000494828.2_5'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	111	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.I111I(1)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CATTGTTCATGATGCAGGTCC	0.597000													14	112					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27187160	27187160	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:27187160G>T	ENST00000222728.3	-	1	233	c.209C>A	c.(208-210)gCg>gAg	p.A70E	HOXA6_ENST00000521478.1_5'UTR|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	70						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A70E(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CTCGTAGGACGCCCGGTTGCA	0.637000													31	82					1.76533e-06	1.94051e-06	1	1	0
TTC40	54777	broad.mit.edu	37	10	134755107	134755107	+	Silent	SNP	C	C	T	rs143120032		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr10:134755107C>T	ENST00000368586.5	-	3	394	c.294G>A	c.(292-294)tcG>tcA	p.S98S	TTC40_ENST00000368582.2_Silent_p.S98S|TTC40_ENST00000368585.3_Silent_p.S98S	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0								p.S98S(2)|p.S40S(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGTTTTCTGCCGACTTCGGGG	0.567000													13	62					0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60028991	60028991	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr18:60028991G>T	ENST00000586569.1	+	7	733	c.695G>T	c.(694-696)gGc>gTc	p.G232V	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	232					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.G232V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				ATCATCTTTGGCGTTTGCTAT	0.413000													54	268					5.82388e-19	7.29251e-19	1	1	0
GPR50	9248	broad.mit.edu	37	X	150349063	150349063	+	Silent	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:150349063C>A	ENST00000218316.3	+	2	1077	c.1008C>A	c.(1006-1008)gcC>gcA	p.A336A		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	336	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.A336E(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GTACCCTGGCCCGCGCCCGTG	0.567000													35	240					4.34311e-12	5.16865e-12	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134371229	134371229	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:134371229C>G	ENST00000357304.4	+	31	6713	c.6658C>G	c.(6658-6660)Cgg>Ggg	p.R2220G	PRRC2B_ENST00000458550.1_Missense_Mutation_p.R1526G|PRRC2B_ENST00000372249.1_3'UTR|PRRC2B_ENST00000405995.1_Missense_Mutation_p.R1526G|PRRC2B_ENST00000465931.1_3'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2220							protein binding	p.R2220G(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GATCAAGCCTCGGGCTGTCAA	0.637000													5	105					0	0	1	0	0
ATP5A1	498	broad.mit.edu	37	18	43671709	43671709	+	Missense_Mutation	SNP	C	C	T	rs146467617	byFrequency	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr18:43671709C>T	ENST00000593152.2	-	3	637	c.98G>A	c.(97-99)cGc>cAc	p.R33H	ATP5A1_ENST00000590665.1_Missense_Mutation_p.R83H|ATP5A1_ENST00000398752.6_Missense_Mutation_p.R83H|ATP5A1_ENST00000282050.2_Missense_Mutation_p.R83H	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	83					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.R83H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CCCATGTACGCGGGCAATACC	0.393000													32	174					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11485907	11485907	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:11485907G>A	ENST00000423059.3	-	13	3096	c.2845C>T	c.(2845-2847)Ccc>Tcc	p.P949S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	949	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCAATCAGGGGATACAAATGG	0.358000										HNSCC(18;0.044)			22	243					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3649126	3649126	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:3649126A>C	ENST00000263087.4	-	18	2349	c.2251T>G	c.(2251-2253)Tgc>Ggc	p.C751G		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	751					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.C751G(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCCCTCAGGCAGCCCAGACAG	0.597000													28	132					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7915177	7915177	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr20:7915177G>T	ENST00000378789.3	-	2	294	c.243C>A	c.(241-243)gcC>gcA	p.A81A		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	81	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	p.A81A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGCGCTGCATGGCCGTAGCCC	0.532000													17	161					9.16793e-09	1.04362e-08	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95508682	95508682	+	Missense_Mutation	SNP	G	G	A	rs139309146		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr8:95508682G>A	ENST00000437199.1	-	17	4136	c.4124C>T	c.(4123-4125)tCa>tTa	p.S1375L	KIAA1429_ENST00000297591.5_Silent_p.L1419L			Q69YN4	VIR_HUMAN	KIAA1429	0					mRNA processing|RNA splicing	nucleus		p.L1419L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTACTTCCATGAGACCATTAT	0.363000													11	118					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47456482	47456482	+	Splice_Site	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:47456482C>A	ENST00000265565.5	-	20	3553	c.3139_splice	c.e20-1	p.G1047_splice	SCAP_ENST00000545718.1_Splice_Site_p.G654_splice|SCAP_ENST00000441517.2_Splice_Site_p.G791_splice	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1047	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	p.G1047G(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCCCTGGGGTCCCTGAGGACA	0.612000													8	48					0.000157383	0.000165425	1	1	0
FAM129A	116496	broad.mit.edu	37	1	184863220	184863220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:184863220C>T	ENST00000367511.3	-	3	500	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	103					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.E103K(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTTTATTCTCATAGCTCTCC	0.378000													5	155					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587708	43587708	+	RNA	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:43587708A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							AACAACCACCATCTCCAAATC	0.348000													4	141					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960105	117960105	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:117960105A>G	ENST00000310164.2	+	4	1405	c.898A>G	c.(898-900)Aga>Gga	p.R300G		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.R300G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGACAGGGCCAGACCTCAGGA	0.562000													21	156					0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69465973	69465973	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:69465973G>T	ENST00000227507.2	+	5	1038	c.811G>T	c.(811-813)Gcc>Tcc	p.A271S		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	271					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CCCCAAGGCCGCCgaggagga	0.682000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			4	54					1.23904e-05	1.33151e-05	1	1	0
HSPA4L	22824	broad.mit.edu	37	4	128722972	128722972	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr4:128722972C>A	ENST00000296464.3	+	6	973	c.562C>A	c.(562-564)Ctt>Att	p.L188I	HSPA4L_ENST00000439123.2_Missense_Mutation_p.L219I|HSPA4L_ENST00000508776.1_Missense_Mutation_p.L188I|HSPA4L_ENST00000505726.1_Missense_Mutation_p.L162I	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	188					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TAAACAGGATCTTCCCCCATT	0.333000													4	85					1	1	1	1	0
GPR50	9248	broad.mit.edu	37	X	150349062	150349062	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:150349062C>A	ENST00000218316.3	+	2	1076	c.1007C>A	c.(1006-1008)gCc>gAc	p.A336D		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	336	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.A336E(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CGTACCCTGGCCCGCGCCCGT	0.567000													35	244					2.47316e-13	2.99273e-13	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30935025	30935025	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:30935025G>T	ENST00000355537.3	+	2	703	c.556G>T	c.(556-558)Ggc>Tgc	p.G186C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G186C(2)		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)					GGGCAACCTGGGCAAGGGGCG	0.667000													7	37					0.00198382	0.00203324	1	1	0
NIP7	51388	broad.mit.edu	37	16	69373735	69373735	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:69373735G>A	ENST00000254940.5	+	1	403	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000569637.2_Start_Codon_SNP_p.M1I|NIP7_ENST00000254941.6_Start_Codon_SNP_p.M1I	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	1					ribosome assembly	nucleolus	protein binding|RNA binding	p.M1I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGGGAAAAATGCGGCCTTTGA	0.592000											OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	417					0	0	1	0	0
PUS3	83480	broad.mit.edu	37	11	125765210	125765210	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:125765210T>C	ENST00000227474.3	-	3	950	c.853A>G	c.(853-855)Atc>Gtc	p.I285V	PUS3_ENST00000530811.1_Missense_Mutation_p.I285V|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	285						nucleus	RNA binding	p.I285V(1)		NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		AGAAAGAGGATAGCCATCATA	0.443000													17	114					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468793	10468793	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr8:10468793C>T	ENST00000382483.3	-	4	3038	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	939					intracellular signal transduction					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)		CCACTGGCCTCCTCCTGCCCC	0.647000													11	77					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								7	66					0	0	1	0	0
CBX7	23492	broad.mit.edu	37	22	39530045	39530045	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr22:39530045C>T	ENST00000216133.5	-	6	812	c.607G>A	c.(607-609)Gac>Aac	p.D203N	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Missense_Mutation_p.D110N	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	203					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex		p.D203N(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					TCGGCCAGGTCGGCATCTGCT	0.647000													8	105					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96624892	96624892	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr13:96624892C>T	ENST00000376747.3	-	11	1196	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	376					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.D376N(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						AGACGAGCATCGCCTGGCTGA	0.343000													12	88					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125561082	125561082	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr12:125561082A>G	ENST00000316519.6	+	3	489	c.283A>G	c.(283-285)Aaa>Gaa	p.K95E	AACS_ENST00000261686.6_Missense_Mutation_p.K95E	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	95					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	p.K95E(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CGAGTGGTTCAAAGGCAGTCG	0.493000													14	142					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961296	1961296	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr20:1961296C>T	ENST00000217305.2	-	4	663	c.438G>A	c.(436-438)atG>atA	p.M146I	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.M146I|PDYN_ENST00000539905.1_Missense_Mutation_p.M146I	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	146					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.M146I(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCATCCCTCATCAGCTCAG	0.557000													11	150					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30495497	30495497	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:30495497G>A	ENST00000356798.6	+	9	1099	c.919G>A	c.(919-921)Gcg>Acg	p.A307T	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.A224T	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	307	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.A307T(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ATCAAAACCCGCGAGCGAGTT	0.473000													37	210					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214819010	214819010	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:214819010C>G	ENST00000366955.3	+	13	6265	c.6097C>G	c.(6097-6099)Ctc>Gtc	p.L2033V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2129					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.L2033V(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAAACTCATCTCCAGGAAAA	0.438000													8	150					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373849	138373849	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:138373849G>A	ENST00000409968.1	+	18	3706	c.3528G>A	c.(3526-3528)ctG>ctA	p.L1176L	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.L1179L|THSD7B_ENST00000413152.2_Silent_p.L1148L					thrombospondin, type I, domain containing 7B									p.L1179L(1)|p.L1148L(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTGCCTCCTGAATGAAAATT	0.453000													31	208					0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81440802	81440802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr15:81440802G>T	ENST00000286732.4	+	7	917	c.834G>T	c.(832-834)atG>atT	p.M278I		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	278								p.M278I(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						CGTCCTCCATGTTGGATCTGC	0.542000													24	142					9.57634e-11	1.11659e-10	1	1	0
NEFM	4741	broad.mit.edu	37	8	24772249	24772249	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr8:24772249G>A	ENST00000221166.5	+	1	1725	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	NEFM_ENST00000437366.2_Missense_Mutation_p.E315K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E315K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	315	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTCCGCCAAGGAAGAGATCGC	0.627000													4	60					0	0	1	0	0
MAD2L2	10459	broad.mit.edu	37	1	11740467	11740467	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:11740467G>T	ENST00000235310.3	-	5	1030	c.102C>A	c.(100-102)cgC>cgA	p.R34R	MAD2L2_ENST00000376669.5_Silent_p.R34R|MAD2L2_ENST00000376667.3_Silent_p.R34R|MAD2L2_ENST00000376692.4_Silent_p.R34R|MAD2L2_ENST00000376672.1_Silent_p.R34R			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	34	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding	p.R34R(2)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGACCTCGCGCACGTAGA	0.627000								DNA polymerases (catalytic subunits)					26	240					3.1745e-13	3.82533e-13	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143095798	143095798	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr6:143095798C>G	ENST00000367603.2	-	5	820	c.78G>C	c.(76-78)tgG>tgC	p.W26C	HIVEP2_ENST00000367604.1_Missense_Mutation_p.W26C|HIVEP2_ENST00000012134.2_Missense_Mutation_p.W26C	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W26C(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTTCCTGTCTCCATCTACCTG	0.448000													15	239					0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9396447	9396447	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr18:9396447G>A	ENST00000262120.5	+	4	584	c.393G>A	c.(391-393)gaG>gaA	p.E131E	TWSG1_ENST00000581641.1_Silent_p.E131E	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	131								p.E131E(1)|p.E131D(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CACATCATGAGAATCTGGTTT	0.448000													10	157					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52774307	52774307	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr12:52774307C>T	ENST00000257951.3	-	7	1330	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	422	Coil 2.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CATTTGGCATCACTGAGGGTC	0.632000											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	58					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121624836	121624836	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr6:121624836G>A	ENST00000275159.6	-	9	1006	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L	TBC1D32_ENST00000398212.2_Missense_Mutation_p.S336L					TBC1 domain family, member 32									p.S336L(1)									AATCTTTTGTGAGACAACATG	0.318000													5	52					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	100990155	100990155	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr8:100990155T>G	ENST00000360863.6	-	23	3703	c.3509A>C	c.(3508-3510)aAa>aCa	p.K1170T	RGS22_ENST00000523437.1_Missense_Mutation_p.K1158T|RGS22_ENST00000523287.1_Missense_Mutation_p.K989T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1170					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.K1170T(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTTCCAGATTTTTCGTCTTC	0.289000													7	97					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39835326	39835326	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr6:39835326C>G	ENST00000538976.1	+	6	651	c.469C>G	c.(469-471)Ctg>Gtg	p.L157V	DAAM2_ENST00000274867.4_Missense_Mutation_p.L157V|DAAM2_ENST00000398904.2_Missense_Mutation_p.L157V	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	157	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.L157V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTTGACCTGTCTGCTAAATTT	0.478000													9	167					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45987864	45987864	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr21:45987864C>T	ENST00000323084.4	-	2	173	c.108G>A	c.(106-108)gcG>gcA	p.A36A	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	36					cell adhesion	extracellular region	structural molecule activity	p.A36A(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGACCACTTCCGCCAGGATGT	0.587000													7	62					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								5	77					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22272062	22272062	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:22272062C>G	ENST00000594947.1	+	4	1654	c.1510C>G	c.(1510-1512)Caa>Gaa	p.Q504E		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q504E(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACACCTTTCTCAACATAAGAT	0.383000													18	77					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56371470	56371470	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr6:56371470C>G	ENST00000370754.5	-	76	19263	c.19264G>C	c.(19264-19266)Gat>Cat	p.D6422H	DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.D3830H|DST_ENST00000421834.2_Missense_Mutation_p.D4156H|DST_ENST00000361203.3_Missense_Mutation_p.D6133H|DST_ENST00000370769.4_Missense_Mutation_p.D6244H|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.D5918H|DST_ENST00000370788.2_Missense_Mutation_p.D4047H			Q03001	DYST_HUMAN	dystonin	6242					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.D3830H(1)|p.D6244H(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTACCTCATCTATACTCTTC	0.358000													10	69					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42777198	42777198	+	Splice_Site	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:42777198C>T	ENST00000310232.6	-	10	1455		c.e10+1		CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13									p.?(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCCCTACTCACGTGCACATTG	0.587000													19	207					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71197584	71197584	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:71197584G>A	ENST00000299886.4	+	7	1698	c.1618G>A	c.(1618-1620)Gac>Aac	p.D540N		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	540					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	p.D540N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CCCCTCTGATGACTCATCACT	0.532000													25	182					0	0	1	0	0
KCTD4	386618	broad.mit.edu	37	13	45768147	45768147	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr13:45768147C>T	ENST00000405872.1	-	2	959	c.556G>A	c.(556-558)Gag>Aag	p.E186K	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000379108.1_Missense_Mutation_p.E186K	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	186						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E186K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		ATTGAAAACTCCTCTGGAAAT	0.363000													10	129					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131261579	131261579	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:131261579C>T	ENST00000512055.1	-	19	3487	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	CPNE4_ENST00000429747.1_Missense_Mutation_p.R454Q|CPNE4_ENST00000502818.1_Missense_Mutation_p.R472Q|CPNE4_ENST00000512332.1_Missense_Mutation_p.R472Q|CPNE4_ENST00000511604.1_Missense_Mutation_p.R454Q			Q96A23	CPNE4_HUMAN	copine IV	454	VWFA.							p.R454Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AATGGCCTCCCGGGTGTCGGC	0.557000													9	117					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31924785	31924785	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr22:31924785C>T	ENST00000432498.1	+	3	595	c.202C>T	c.(202-204)Cta>Tta	p.L68L	SFI1_ENST00000443011.1_Intron|SFI1_ENST00000400288.2_Silent_p.L68L|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000540643.1_Silent_p.L68L|SFI1_ENST00000443326.1_Intron	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	68					G2/M transition of mitotic cell cycle	centriole|cytosol		p.L68L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TACCAGTCATCTAGTGCAGTA	0.493000													6	137					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197112595	197112595	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:197112595T>G	ENST00000367409.4	-	3	1043	c.787A>C	c.(787-789)Agt>Cgt	p.S263R	ASPM_ENST00000294732.7_Missense_Mutation_p.S263R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	263					mitosis	cytoplasm|nucleus	calmodulin binding	p.S263R(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACGTTGGCACTGTGTACATTT	0.378000													21	131					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533924	92533924	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:92533924C>G	ENST00000298047.6	+	9	7762	c.7745C>G	c.(7744-7746)aCt>aGt	p.T2582S	FAT3_ENST00000409404.2_Missense_Mutation_p.T2582S|FAT3_ENST00000525166.1_Missense_Mutation_p.T2432S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2582	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.T2582S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGAGAACAACTTTCTGCACT	0.483000										TCGA Ovarian(4;0.039)			4	39					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63666936	63666936	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:63666936C>A	ENST00000409562.3	-	7	700	c.454G>T	c.(454-456)Gac>Tac	p.D152Y	WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000272321.7_Missense_Mutation_p.D152Y|WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000409835.1_5'UTR			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	152					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		p.D152Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AGGCTTCTGTCAATCACCACT	0.507000													14	173					0.000219431	0.000229805	1	1	0
OR5M8	219484	broad.mit.edu	37	11	56258676	56258676	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:56258676G>T	ENST00000327216.2	-	1	195	c.171C>A	c.(169-171)ccC>ccA	p.P57P		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P57P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AAAAGTACATGGGCATGTGGA	0.493000													25	143					7.92952e-12	9.39795e-12	1	1	0
BASP1	10409	broad.mit.edu	37	5	17275932	17275932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr5:17275932G>A	ENST00000322611.3	+	2	867	c.607G>A	c.(607-609)Gca>Aca	p.A203T		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	203					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CCAGGGCCCCGCAGCCTCTGC	0.617000													7	54					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54029107	54029107	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:54029107G>A	ENST00000338154.6	-	9	1459	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	PHF8_ENST00000338946.6_Missense_Mutation_p.H319Y|PHF8_ENST00000357988.5_Missense_Mutation_p.H355Y|PHF8_ENST00000322659.8_Missense_Mutation_p.H319Y	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	355	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.H319Y(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AGCACAGCATGGATCCACCCT	0.488000													10	74					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40672043	40672043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr12:40672043G>T	ENST00000298910.7	+	18	2279	c.2221G>T	c.(2221-2223)Gga>Tga	p.G741*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.G741*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	741					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCAAAGGAGGGATCTTCTTT	0.393000													19	145					2.39556e-15	2.94839e-15	1	1	0
PTRF	284119	broad.mit.edu	37	17	40556890	40556890	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:40556890C>T	ENST00000357037.5	-	2	1407	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	330					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	p.E330K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		ACCTGGCCCTCGCGGATCTTC	0.687000													6	141					0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120651681	120651681	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr12:120651681G>A	ENST00000397506.3	-	8	1962	c.909C>T	c.(907-909)ctC>ctT	p.L303L	PXN_ENST00000267257.7_Silent_p.L505L|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Silent_p.L489L|PXN_ENST00000458477.2_Silent_p.L324L|PXN_ENST00000424649.2_Silent_p.L457L|PXN_ENST00000228307.7_Silent_p.L491L			P49023	PAXI_HUMAN	paxillin	491					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	p.L457L(2)|p.L491L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAGCGTGTTGAGGGCTGAGA	0.617000													4	23					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122537344	122537344	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:122537344C>G	ENST00000264357.5	+	9	1559	c.1267C>G	c.(1267-1269)Cgg>Ggg	p.R423G	GRIA3_ENST00000371256.5_Missense_Mutation_p.R423G|GRIA3_ENST00000541091.1_Missense_Mutation_p.R407G|GRIA3_ENST00000371251.1_Missense_Mutation_p.R423G|GRIA3_ENST00000542149.1_Missense_Mutation_p.R423G	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	423					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.R423G(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CTCAGAGAATCGGACCATAGT	0.433000													31	236					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127670635	127670635	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:127670635G>A	ENST00000249363.3	-	2	316	c.59C>T	c.(58-60)cCg>cTg	p.P20L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	20						cell junction|integral to membrane|postsynaptic membrane		p.P20L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GTAGACGAACGGGAGCAGGAT	0.597000													26	247					0	0	1	0	0
TADA2B	93624	broad.mit.edu	37	4	7056332	7056332	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr4:7056332G>C	ENST00000310074.7	+	2	1003	c.814G>C	c.(814-816)Gat>Cat	p.D272H	TADA2B_ENST00000512388.1_Missense_Mutation_p.D197H|TADA2B_ENST00000515646.1_Missense_Mutation_p.D180H	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	p.D272H(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						CAAGGAGTTTGATGACCTTTT	0.522000													13	60					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247694892	247694892	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:247694892C>T	ENST00000366487.3	-	2	1283	c.922G>A	c.(922-924)Gag>Aag	p.E308K	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E307K(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAGCAGTTCTCTAATACCATG	0.512000													12	79					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	215274887	215274887	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:215274887G>T	ENST00000331683.5	+	16	1839	c.1744G>T	c.(1744-1746)Ggc>Tgc	p.G582C	AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA|SPAG16_ENST00000374309.3_Missense_Mutation_p.G488C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	582					cilium assembly	cilium axoneme|flagellar axoneme		p.G582C(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TCAGGCAAGTGGCAATGGTGT	0.433000													12	111					0.00136819	0.00140729	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91700233	91700233	+	Silent	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:91700233A>G	ENST00000359028.2	+	29	6783	c.6558A>G	c.(6556-6558)aaA>aaG	p.K2186K	AKAP9_ENST00000356239.3_Silent_p.K2174K|AKAP9_ENST00000358100.2_Silent_p.K2186K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2186	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.K2174K(1)|p.K2186K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGACCGAAAACACTTTGGAG	0.328000			T	BRAF	papillary thyroid								51	161					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39647380	39647380	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr18:39647380C>T	ENST00000262039.4	+	24	2638	c.2552C>T	c.(2551-2553)tCg>tTg	p.S851L	PIK3C3_ENST00000398870.3_Missense_Mutation_p.S788L|PIK3C3_ENST00000588156.1_Missense_Mutation_p.S75L|PIK3C3_ENST00000593098.1_Missense_Mutation_p.S336L|PIK3C3_ENST00000587328.1_Missense_Mutation_p.S29L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	851	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	p.S851L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTAGACCTGTCGGATGAAGAG	0.423000										TSP Lung(28;0.18)			25	89					0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14706176	14706176	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr12:14706176C>G	ENST00000240617.5	-	2	938	c.286G>C	c.(286-288)Gag>Cag	p.E96Q		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	96					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						ATGATGATCTCATTGCTCAGG	0.527000													13	36					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49227724	49227724	+	Splice_Site	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:49227724C>T	ENST00000340334.7	-	3	442	c.73_splice	c.e3-1	p.G25_splice	FOLH1_ENST00000356696.3_Splice_Site_p.G40_splice|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000256999.2_Splice_Site_p.G40_splice|FOLH1_ENST00000533034.1_Splice_Site_p.G25_splice	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	40					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TATAAACCACCCTGAAAAATA	0.303000													9	83					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160836348	160836348	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:160836348C>G	ENST00000283243.7	-	14	2467	c.2261G>C	c.(2260-2262)aGa>aCa	p.R754T	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R754T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	754	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.R754T(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TACAGGAGTTCTATCAGACCA	0.428000													9	37					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865098	140865098	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr5:140865098G>C	ENST00000306593.1	+	1	358	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.E120Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCGAGCAGAGGTAGAGAT	0.577000													16	119					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57089342	57089342	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:57089342G>A	ENST00000532437.1	-	1	329	c.18C>T	c.(16-18)ctC>ctT	p.L6L	TNKS1BP1_ENST00000358252.3_Silent_p.L6L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	6	Arg/Glu/Lys/Pro-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.L6L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGCTTTCCCTGAGAGTAGACA	0.597000													18	62					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	100957385	100957385	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr6:100957385C>G	ENST00000369162.2	-	42	6830	c.6486G>C	c.(6484-6486)atG>atC	p.M2162I		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2162	SEC63 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.M2162I(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AGCAGTCACTCATGAAATATA	0.358000													6	107					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103023013	103023013	+	Splice_Site	SNP	A	A	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:103023013A>T	ENST00000375735.2	+	21	3239	c.3096_splice	c.e21+1	p.Q1032_splice	DYNC2H1_ENST00000398093.3_Splice_Site_p.Q1032_splice|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1032	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATTAAAGACCAGGTTAGAATC	0.294000													12	72					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31341648	31341648	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:31341648G>T	ENST00000544665.3	+	27	3154	c.3083G>T	c.(3082-3084)tGc>tTc	p.C1028F	ITGAM_ENST00000287497.8_Missense_Mutation_p.C1027F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1027					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.C1027F(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ATCGCTGTCTGCCAGAGAATC	0.547000													16	88					3.52763e-06	3.84833e-06	1	1	0
MAP3K4	4216	broad.mit.edu	37	6	161470184	161470184	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr6:161470184A>T	ENST00000392142.4	+	3	1028	c.880A>T	c.(880-882)Att>Ttt	p.I294F	MAP3K4_ENST00000366920.2_Missense_Mutation_p.I294F|MAP3K4_ENST00000348824.7_Missense_Mutation_p.I294F|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I294F	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	294			I -> T (in dbSNP:rs35842248).		activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.I294F(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CATCCCAGATATTATTAATGA	0.428000													9	80					0	0	1	0	0
CD300LB	124599	broad.mit.edu	37	17	72527484	72527484	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:72527484C>A	ENST00000392621.1	-	1	121	c.117G>T	c.(115-117)tgG>tgT	p.W39C	CD300LB_ENST00000314401.3_Missense_Mutation_p.W39C	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	2	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.W39C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CAGGGGGCAGCCACATGGCTC	0.627000													13	126					9.31168e-06	1.01199e-05	1	1	0
NIFK	84365	broad.mit.edu	37	2	122488554	122488554	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:122488554C>T	ENST00000285814.4	-	4	551	c.479G>A	c.(478-480)cGg>cAg	p.R160Q		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		160					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.R160Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTCCTCCATCCGTAGCTTTTG	0.343000													24	164					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185167766	185167766	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:185167766G>T	ENST00000265026.3	+	6	1423	c.1089G>T	c.(1087-1089)tgG>tgT	p.W363C	MAP3K13_ENST00000424227.1_Missense_Mutation_p.W363C|MAP3K13_ENST00000446828.1_Missense_Mutation_p.W156C|MAP3K13_ENST00000443863.1_Missense_Mutation_p.W219C|MAP3K13_ENST00000535426.1_Missense_Mutation_p.W219C	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	363	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.W363C(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCATTATCTGGGGTGTTGGAA	0.468000													20	152					3.51602e-12	4.20171e-12	1	1	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													29	62					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210642136	210642136	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:210642136G>C	ENST00000439458.1	+	4	533	c.453G>C	c.(451-453)caG>caC	p.Q151H	UNC80_ENST00000272845.5_Missense_Mutation_p.Q151H|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	151						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TCATCCACCAGGTTGAAAACC	0.552000													16	123					0	0	1	0	0
CWC15	51503	broad.mit.edu	37	11	94705238	94705238	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:94705238G>C	ENST00000279839.6	-	2	234	c.112C>G	c.(112-114)Cat>Gat	p.H38D	CWC15_ENST00000545018.1_5'UTR	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein homolog (S. cerevisiae)	38					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCTTTGTATGAGAGGGTAGG	0.398000													26	168					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881674	69881674	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr10:69881674A>C	ENST00000358913.5	+	2	967	c.479A>C	c.(478-480)gAg>gCg	p.E160A	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.E160A|MYPN_ENST00000540630.1_Missense_Mutation_p.E160A	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	160	Interaction with CARP.					nucleus|sarcomere	actin binding	p.E160A(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCATTGAAGAGCTATCCTCC	0.423000													10	56					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498475	61498475	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:61498475A>G	ENST00000424789.2	+	25	5136	c.5132A>G	c.(5131-5133)tAc>tGc	p.Y1711C	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Y1721C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1711							binding	p.Y1721C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGCGTGAGATACAGCCAGACA	0.557000													42	379					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974297	44974297	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr14:44974297C>A	ENST00000340446.4	-	1	2185	c.1894G>T	c.(1894-1896)Gct>Tct	p.A632S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	632	Ala-rich.					cilium		p.A632S(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAACTTCAGCGGGGGCCTCC	0.637000													3	40					1	1	1	1	0
ARHGEF28	64283	broad.mit.edu	37	5	73048996	73048996	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr5:73048996G>A	ENST00000545377.1	+	4	620	c.444G>A	c.(442-444)gaG>gaA	p.E148E	ARHGEF28_ENST00000437974.1_Silent_p.E148E|ARHGEF28_ENST00000513042.2_Silent_p.E148E|ARHGEF28_ENST00000296794.6_Silent_p.E148E|ARHGEF28_ENST00000287898.5_Silent_p.E148E|ARHGEF28_ENST00000426542.2_Silent_p.E148E	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.E148E(2)									TGCCTCTAGAGTGGACTGTGT	0.512000													4	30					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682206	69682206	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr4:69682206G>T	ENST00000265403.7	+	1	496	c.469G>T	c.(469-471)Gag>Tag	p.E157*	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	157					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E157*(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACCCTGTGGTGAGCTGCTGGC	0.388000													19	179					1.33834e-09	1.54796e-09	1	1	0
MPHOSPH9	10198	broad.mit.edu	37	12	123706321	123706321	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr12:123706321G>C	ENST00000606320.1	-	5	676	c.470C>G	c.(469-471)tCt>tGt	p.S157C	MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S5C|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S127C|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S5C			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	5					M phase of mitotic cell cycle	centriole|Golgi membrane		p.S5C(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ACTGCTTAGAGAAAAAAAACC	0.373000													11	108					0	0	1	0	0
ADPRM	56985	broad.mit.edu	37	17	10614344	10614344	+	Silent	SNP	A	A	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:10614344A>T	ENST00000379774.4	+	4	1003	c.912A>T	c.(910-912)ccA>ccT	p.P304P		NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent									p.P304P(1)									AAACAGCTCCAGACAGCCAAG	0.433000													14	63					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91675527	91675527	+	Splice_Site	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:91675527C>T	ENST00000298274.8	+	4	3234	c.3232_splice	c.e4-1	p.T1078_splice	PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000373088.1_Intron			Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1115					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						tttctttatccttcatcccaa	0.333000													21	181					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604652	71604652	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:71604652C>A	ENST00000355962.4	-	8	975	c.842G>T	c.(841-843)cGc>cTc	p.R281L	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	281					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.R281L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	AACCAGCCAGCGCTTGGCCAG	0.512000													10	68					6.40141e-05	6.82817e-05	1	1	0
INHBA	3624	broad.mit.edu	37	7	41729294	41729294	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:41729294T>C	ENST00000242208.4	-	3	1481	c.1235A>G	c.(1234-1236)aAa>aGa	p.K412R	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.K412R	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	412					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.K412R(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AATGTCCTTTTTGATGATGTT	0.522000										TSP Lung(11;0.080)			34	80					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518128	8518128	+	Silent	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:8518128C>G	ENST00000381196.4	-	18	1806	c.1263G>C	c.(1261-1263)ccG>ccC	p.P421P	PTPRD_ENST00000360074.4_Silent_p.P408P|PTPRD_ENST00000355233.5_Silent_p.P421P|PTPRD_ENST00000356435.5_Silent_p.P421P|PTPRD_ENST00000537002.1_Silent_p.P418P|PTPRD_ENST00000486161.1_Silent_p.P421P|PTPRD_ENST00000540109.1_Silent_p.P421P|PTPRD_ENST00000358503.5_Silent_p.P408P|PTPRD_ENST00000397611.3_Silent_p.P418P|PTPRD_ENST00000397606.3_Silent_p.P411P|PTPRD_ENST00000397617.3_Silent_p.P411P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	421	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P421P(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGACATCCCTCGGGGCACTGG	0.493000										TSP Lung(15;0.13)			22	209					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36322010	36322010	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:36322010C>T	ENST00000378910.5	-	27	3425	c.3426G>A	c.(3424-3426)ctG>ctA	p.L1142L	NPHS1_ENST00000353632.6_Silent_p.L1102L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1142					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.L1142L(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGAAGTCCCTCAGGGAGCGGT	0.587000													14	162					0	0	1	0	0
TRAPPC13	80006	broad.mit.edu	37	5	64956651	64956651	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr5:64956651G>C	ENST00000399438.3	+	10	1169	c.824G>C	c.(823-825)gGa>gCa	p.G275A	TRAPPC13_ENST00000505553.1_Missense_Mutation_p.G269A|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.G275A|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.G269A|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.G276A	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2			trafficking protein particle complex 13									p.G275A(2)									ACAGTAATTGGAAAATTGGAT	0.398000													4	60					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54912529	54912529	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:54912529C>T	ENST00000284061.3	+	2	553	c.373C>T	c.(373-375)Cac>Tac	p.H125Y	C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000576869.1_3'UTR|DGKE_ENST00000572810.1_Missense_Mutation_p.H125Y	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	125					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	p.H125Y(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CGCCATGCCCCACCACTGGAT	0.577000													20	132					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039415	11039415	+	RNA	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr21:11039415C>T	ENST00000470054.1	-	0	788									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)		ATCTGTTTTTCCAATTCGGTA	0.289000													7	281					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392793	1392793	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:1392793G>T	ENST00000324385.5	+	13	1402	c.1244G>T	c.(1243-1245)cGg>cTg	p.R415L	BAIAP3_ENST00000421665.2_Missense_Mutation_p.R344L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R380L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R397L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R397L|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R352L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R357L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	415					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.R415L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CATCTGCTGCGGTTGGAGCAC	0.672000													6	44					0.00116845	0.00120614	1	1	0
LAMB2	3913	broad.mit.edu	37	3	49161339	49161339	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:49161339G>A	ENST00000418109.1	-	25	3783	c.3619C>T	c.(3619-3621)Cgt>Tgt	p.R1207C	LAMB2_ENST00000305544.4_Missense_Mutation_p.R1207C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1207	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R1207C(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCTGTGTACGGGCTGCCAAG	0.612000													14	82					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116811408	116811408	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:116811408C>G	ENST00000288466.7	+	14	1646	c.1547C>G	c.(1546-1548)tCg>tGg	p.S516W	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.S609W	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TTCGTGATGTCGGAGATCAGG	0.592000													10	209					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957758	73957758	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr4:73957758G>A	ENST00000358602.4	-	29	5703	c.5587C>T	c.(5587-5589)Cac>Tac	p.H1863Y	ANKRD17_ENST00000509867.2_Missense_Mutation_p.H1750Y|ANKRD17_ENST00000330838.6_Missense_Mutation_p.H1612Y	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1863					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.H1863Y(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGGTTTTGTGAGTGGATGCA	0.433000													12	186					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33451278	33451278	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr20:33451278G>A	ENST00000336431.5	-	2	287	c.243C>T	c.(241-243)gaC>gaT	p.D81D		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	81					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCGGCGACCCGTCTTGGCTGC	0.697000													5	26					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	86071099	86071099	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:86071099C>A	ENST00000373131.1	+	10	1871	c.1708C>A	c.(1708-1710)Caa>Aaa	p.Q570K	DACH2_ENST00000477378.2_Intron|DACH2_ENST00000510272.1_Missense_Mutation_p.Q364K|DACH2_ENST00000373125.4_Missense_Mutation_p.Q583K|DACH2_ENST00000508860.1_Missense_Mutation_p.Q416K	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TGCTGCTATGCAAGGTACAGT	0.398000													12	71					0.000151284	0.000160184	1	1	0
TSEN34	79042	broad.mit.edu	37	19	54696204	54696204	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:54696204G>C	ENST00000396383.1	+	4	1036	c.725G>C	c.(724-726)gGt>gCt	p.G242A	TSEN34_ENST00000302937.4_Missense_Mutation_p.G242A|TSEN34_ENST00000396388.2_Missense_Mutation_p.G242A|TSEN34_ENST00000429671.2_Missense_Mutation_p.G242A			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	242					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	p.G242A(1)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGTTCGGAGGTGACTTCCTG	0.552000													8	112					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51288719	51288719	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr14:51288719C>A	ENST00000245441.5	-	3	246	c.56G>T	c.(55-57)aGt>aTt	p.S19I	NIN_ENST00000453196.1_Missense_Mutation_p.S19I|NIN_ENST00000389868.3_Missense_Mutation_p.S19I|NIN_ENST00000382041.3_Missense_Mutation_p.S19I|NIN_ENST00000382043.4_Missense_Mutation_p.S19I|NIN_ENST00000324330.9_Missense_Mutation_p.S19I|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_Missense_Mutation_p.S19I	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	19	EF-hand 1.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	p.S19I(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CGTGTCAAAACTGTCAAACAG	0.582000			T	PDGFRB	MPD								62	407					1.20466e-24	1.53514e-24	1	1	0
MRPL16	54948	broad.mit.edu	37	11	59575233	59575233	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:59575233C>T	ENST00000300151.4	-	3	424	c.211G>A	c.(211-213)Gac>Aac	p.D71N		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	71							rRNA binding	p.D71N(1)		central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						CCCCGTATGTCACTTAAATTT	0.413000													51	260					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45725774	45725774	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr20:45725774A>T	ENST00000327619.5	+	9	1229	c.855A>T	c.(853-855)ttA>ttT	p.L285F	EYA2_ENST00000357410.3_Missense_Mutation_p.L285F|EYA2_ENST00000317304.6_Missense_Mutation_p.L285F	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	285					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	p.L285F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TTCACTCCTTACTCACGGGGA	0.423000													27	241					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33282891	33282891	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr18:33282891G>C	ENST00000269195.5	+	9	1433	c.1330G>C	c.(1330-1332)Gat>Cat	p.D444H	GALNT1_ENST00000537549.1_Missense_Mutation_p.D384H	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	444	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.D444H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCAGTGTCTAGATAACATGGC	0.343000													21	122					0	0	1	0	0
TRAPPC6B	122553	broad.mit.edu	37	14	39628703	39628703	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr14:39628703G>C	ENST00000330149.5	-	2	359	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	TRAPPC6B_ENST00000557764.1_Intron|TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.Q45E	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	45					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	p.Q45E(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		ATCAATCCTTGTCCCACTCGA	0.338000													21	143					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188426068	188426068	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:188426068G>T	ENST00000312675.4	+	7	1373	c.1127G>T	c.(1126-1128)gGg>gTg	p.G376V	LPP_ENST00000543006.1_Missense_Mutation_p.G376V|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.G376V	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	376					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.G376V(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GGCCATTCAGGGCAACTGGGG	0.522000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								11	78					7.03913e-09	8.04472e-09	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91660865	91660865	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:91660865G>A	ENST00000359028.2	+	17	4546	c.4321G>A	c.(4321-4323)Gtt>Att	p.V1441I	AKAP9_ENST00000356239.3_Missense_Mutation_p.V1429I|AKAP9_ENST00000358100.2_Missense_Mutation_p.V1441I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1441					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.V1429I(1)|p.V1441I(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACAAATATCGTTAAGTTGCT	0.284000			T	BRAF	papillary thyroid								17	134					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47456639	47456639	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr3:47456639C>G	ENST00000265565.5	-	19	3500	c.3088G>C	c.(3088-3090)Gat>Cat	p.D1030H	SCAP_ENST00000545718.1_Missense_Mutation_p.D637H|SCAP_ENST00000441517.2_Missense_Mutation_p.D774H	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1030	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	p.D1030H(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAGAAGAAATCAAGGGAACCG	0.622000													7	65					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	83635621	83635621	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr10:83635621C>T	ENST00000404547.1	+	1	525	c.525C>T	c.(523-525)atC>atT	p.I175I	NRG3_ENST00000372141.2_Silent_p.I175I			P56975	NRG3_HUMAN	neuregulin 3	175	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGGTGCCCATCCGGGCCAGCC	0.731000													5	83					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4142838	4142838	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:4142838C>T	ENST00000300738.5	+	10	1085	c.881C>T	c.(880-882)cCt>cTt	p.P294L	RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000423050.2_Missense_Mutation_p.P197L|RRM1_ENST00000537197.1_5'UTR|RRM1_ENST00000534285.1_Missense_Mutation_p.P72L	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	294					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	p.P294L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CACTAGCGTCCTGGGGCATTT	0.368000													10	61					0	0	1	0	0
TOMM20L	387990	broad.mit.edu	37	14	58862762	58862762	+	Silent	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr14:58862762C>G	ENST00000360945.2	+	1	129	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	29					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						GTATTTACCTCAACCGGAAGC	0.756000													9	25					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379201	204379201	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:204379201C>G	ENST00000367188.4	-	1	1718	c.1339G>C	c.(1339-1341)Gat>Cat	p.D447H	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	447					regulation of translation			p.D447H(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCATCCCAATCCTCACCTTCT	0.458000													14	205					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87723667	87723667	+	Silent	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:87723667G>C	ENST00000284262.2	+	4	1943	c.1701G>C	c.(1699-1701)ggG>ggC	p.G567G	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	567					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGCAGCCCGGGAACCCCAAGC	0.741000													2	2					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17653042	17653042	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:17653042C>T	ENST00000335393.4	+	11	1499	c.1361C>T	c.(1360-1362)gCa>gTa	p.A454V	FAM129C_ENST00000599124.1_Missense_Mutation_p.A423V|FAM129C_ENST00000300971.2_Missense_Mutation_p.A454V|FAM129C_ENST00000600871.1_Missense_Mutation_p.A400V|FAM129C_ENST00000332386.5_Missense_Mutation_p.A454V|FAM129C_ENST00000449408.2_Missense_Mutation_p.A180V|FAM129C_ENST00000599164.1_Missense_Mutation_p.A423V|FAM129C_ENST00000595684.1_Missense_Mutation_p.A454V|FAM129C_ENST00000601861.1_Missense_Mutation_p.A423V|FAM129C_ENST00000352727.3_Missense_Mutation_p.A454V	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	454								p.A454V(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CAGCTGGCAGCACCGTTTGGC	0.627000													23	240					0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45981368	45981368	+	Silent	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr15:45981368C>G	ENST00000260324.7	+	9	1634	c.1248C>G	c.(1246-1248)ctC>ctG	p.L416L	SQRDL_ENST00000568606.1_Silent_p.L416L	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	416							oxidoreductase activity	p.L416L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CCATGTATCTCATGAAAGCTG	0.473000													13	115					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055780	6055780	+	Silent	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr4:6055780G>C	ENST00000409021.3	-	13	2252	c.1803C>G	c.(1801-1803)ctC>ctG	p.L601L	JAKMIP1_ENST00000282924.5_Silent_p.L601L|JAKMIP1_ENST00000410077.2_Silent_p.L436L|JAKMIP1_ENST00000409831.1_Silent_p.L601L|JAKMIP1_ENST00000409371.3_Silent_p.L416L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	601	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.L601L(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCTTACTTCGAGTTCTAGCA	0.403000													25	203					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22030794	22030794	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:22030794C>G	ENST00000308271.9	-	20	3124	c.2476G>C	c.(2476-2478)Gat>Cat	p.D826H	USP48_ENST00000374732.3_Missense_Mutation_p.D364H|USP48_ENST00000529637.1_Missense_Mutation_p.D838H|USP48_ENST00000400301.1_Missense_Mutation_p.D826H	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	826					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.D826H(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGGTTTACATCTCCCACTTCA	0.373000													7	86					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1222560	1222560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr1:1222560C>A	ENST00000338555.2	+	6	1843	c.699C>A	c.(697-699)taC>taA	p.Y233*	SCNN1D_ENST00000379116.5_Nonsense_Mutation_p.Y397*|SCNN1D_ENST00000400928.3_Nonsense_Mutation_p.Y233*|SCNN1D_ENST00000325425.8_Nonsense_Mutation_p.Y299*					sodium channel, non-voltage-gated 1, delta subunit									p.Y233*(1)|p.Y397*(1)		lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGGACTGGTACCACTTCCACT	0.642000													8	58					0.000442599	0.000460176	1	1	0
MTM1	4534	broad.mit.edu	37	X	149839952	149839952	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:149839952G>A	ENST00000370396.2	+	15	1750	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	MTM1_ENST00000413012.2_Missense_Mutation_p.E529K|MTM1_ENST00000543350.1_Missense_Mutation_p.E451K|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	566					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.E566K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTACGCGACGAATACATAAA	0.522000													23	93					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	52					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224847476	224847476	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:224847476C>G	ENST00000409840.3	-	7	1567	c.907G>C	c.(907-909)Gat>Cat	p.D303H	SERPINE2_ENST00000258405.4_Missense_Mutation_p.D303H|SERPINE2_ENST00000447280.2_Missense_Mutation_p.D315H|SERPINE2_ENST00000409304.1_Missense_Mutation_p.D303H			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	303					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	p.D303H(1)|p.D315H(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCCTTCAAATCTGTTTGTGCT	0.353000													7	61					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112579651	112579651	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:112579651C>T	ENST00000297145.4	-	1	320	c.155G>A	c.(154-156)cGa>cAa	p.R52Q		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	52										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTTACCTTCTCGGTACTTCTT	0.617000													7	94					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18574179	18574179	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:18574179T>A	ENST00000380548.4	+	4	728	c.389T>A	c.(388-390)cTg>cAg	p.L130Q	ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.L130Q|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L130Q|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.L130Q|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.L130Q|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.L130Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	130						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.L130Q(2)		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)		GGAACAACCCTGGTTGTTGAA	0.443000													9	212					0	0	1	0	0
ARL15	54622	broad.mit.edu	37	5	53467697	53467697	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr5:53467697C>G	ENST00000504924.1	-	2	203	c.110G>C	c.(109-111)tGc>tCc	p.C37S	ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000502271.1_Intron|ARL15_ENST00000507646.2_Missense_Mutation_p.C37S	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	37							GTP binding	p.C37S(1)|p.C25S(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				GAGGCCTATGCAAACCAGGTC	0.498000													9	52					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125080028	125080028	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr8:125080028G>A	ENST00000522917.1	+	28	3905	c.3699G>A	c.(3697-3699)aaG>aaA	p.K1233K	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.K1233K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1233						integral to membrane				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)			GAAATCCCAAGGGAAAAAAAG	0.393000													5	38					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153874673	153874673	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr4:153874673G>A	ENST00000511601.1	+	3	709	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R174Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	174	FH2.				actin cytoskeleton organization		actin binding	p.R174L(1)|p.R174Q(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GATGCAAAACGGAGCATGAAC	0.313000													12	110					0	0	1	0	0
CTSL3P	392360	broad.mit.edu	37	9	90388437	90388437	+	RNA	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:90388437G>A	ENST00000354530.2	+	0	303					NR_027917.1													p.W101*(1)									TGCAGACCTGGTGGACTGCTC	0.468000													9	77					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428724	139428724	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:139428724C>A	ENST00000272641.3	-	2	669	c.563G>T	c.(562-564)cGc>cTc	p.R188L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	188	V (Cys-rich).				neuropeptide signaling pathway	extracellular region		p.R188H(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ATACTCAATGCGACAATTGAA	0.478000													7	42					8.12818e-05	8.68238e-05	1	1	0
BRCA1	672	broad.mit.edu	37	17	41244550	41244550	+	Missense_Mutation	SNP	C	C	G	rs80357124		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:41244550C>G	ENST00000309486.4	-	9	3137	c.2110G>C	c.(2110-2112)Gag>Cag	p.E704Q	BRCA1_ENST00000346315.3_Missense_Mutation_p.E1000Q|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E953Q|BRCA1_ENST00000354071.3_Missense_Mutation_p.E1000Q|BRCA1_ENST00000471181.2_Missense_Mutation_p.E1000Q|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.E1000Q|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591849.1_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1000					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.E1000Q(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AAGTTTTCCTCTAGCAGATTT	0.343000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			8	155					0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129945750	129945750	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:129945750C>A	ENST00000222482.4	+	6	609	c.581C>A	c.(580-582)aCg>aAg	p.T194K	CPA4_ENST00000493259.1_Missense_Mutation_p.T90K|CPA4_ENST00000445470.2_Missense_Mutation_p.T161K	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	194					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.T194K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GCAATCTGGACGGCAAGGAAG	0.632000													20	111					6.33239e-15	7.76406e-15	1	1	0
ZNF354C	30832	broad.mit.edu	37	5	178506452	178506452	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr5:178506452G>A	ENST00000315475.6	+	5	1325	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R340K(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TTCAACTGTAGAGCAAAACTT	0.428000													22	349					0	0	1	0	0
LINC01420	550643	broad.mit.edu	37	X	56763924	56763924	+	RNA	SNP	T	T	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:56763924T>A	ENST00000374922.4	+	0	468					NR_015367.2																						TTAACCCCAGTTTATTGAATC	0.403000													7	60					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60584215	60584215	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr20:60584215C>T	ENST00000252996.3	-	5	1776	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	593	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.V593L(1)|p.V593M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CATTTCTTCACGTTTTCCATA	0.343000													9	46					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1565068	1565068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:1565068C>T	ENST00000378712.1	+	17	2561	c.2236C>T	c.(2236-2238)Caa>Taa	p.Q746*	MIB2_ENST00000357210.4_Silent_p.S929S|MIB2_ENST00000518681.1_Silent_p.S921S|MIB2_ENST00000355826.5_Silent_p.S972S|MIB2_ENST00000360522.4_Silent_p.S894S|MIB2_ENST00000378708.1_Silent_p.S835S|MIB2_ENST00000504599.1_Silent_p.S885S|MIB2_ENST00000520777.1_Silent_p.S982S|MIB2_ENST00000378710.3_Silent_p.S893S|MIB2_ENST00000505820.2_Silent_p.S986S	NM_001170689.1	NP_001164160.1	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	867					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGTCGTCAGCAAGAAACTGC	0.692000													7	45					0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546597	2546597	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:2546597G>A	ENST00000567020.1	+	2	588	c.448G>A	c.(448-450)Gag>Aag	p.E150K	RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.E150K|TBC1D24_ENST00000293970.5_Missense_Mutation_p.E150K|TBC1D24_ENST00000434757.2_Missense_Mutation_p.E150K	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	150	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CGACGAGGCCGAGTGCTTCGA	0.647000													3	63					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31515172	31515172	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr5:31515172C>T	ENST00000511367.2	-	7	1457	c.1213G>A	c.(1213-1215)Gaa>Aaa	p.E405K	DROSHA_ENST00000442743.1_Missense_Mutation_p.E368K|DROSHA_ENST00000344624.3_Missense_Mutation_p.E405K|DROSHA_ENST00000513349.1_Missense_Mutation_p.E368K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	405					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.E405K(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGAAGTTCTTCTTCTTCCTCC	0.463000													12	146					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	86071099	86071099	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:86071099C>A	ENST00000373131.1	+	10	1871	c.1708C>A	c.(1708-1710)Caa>Aaa	p.Q570K	DACH2_ENST00000510272.1_Missense_Mutation_p.Q364K|DACH2_ENST00000508860.1_Missense_Mutation_p.Q416K|DACH2_ENST00000373125.4_Missense_Mutation_p.Q583K|DACH2_ENST00000477378.2_Intron	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TGCTGCTATGCAAGGTACAGT	0.398000													12	71					0.000151284	0.00016099	1	1	0
KIF17	57576	broad.mit.edu	37	1	21014237	21014237	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:21014237C>T	ENST00000247986.2	-	8	1892	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	KIF17_ENST00000400463.3_Missense_Mutation_p.E528K|KIF17_ENST00000375044.1_Missense_Mutation_p.E428K|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	528					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.E528K(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-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;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTGGAGGGTTCCACCTTGGGC	0.562000													22	141					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47308566	47308566	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:47308566G>T	ENST00000377065.4	-	5	1242	c.603C>A	c.(601-603)aaC>aaA	p.N201K	ZNF41_ENST00000313116.7_Missense_Mutation_p.N201K|ZNF41_ENST00000397050.2_Missense_Mutation_p.N211K	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	243						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N201K(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GATTATGTGAGTTTAAAGTAT	0.328000													17	195					1.02788e-11	1.21282e-11	1	1	0
PPM1D	8493	broad.mit.edu	37	17	58725387	58725387	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:58725387C>G	ENST00000305921.3	+	4	1193	c.961C>G	c.(961-963)Cca>Gca	p.P321A		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	321	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.P321A(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GAATATGATTCCACCACAAGA	0.408000													24	102					0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76779523	76779523	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:76779523G>A	ENST00000328299.3	+	2	200	c.52G>A	c.(52-54)Gcg>Acg	p.A18T		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	18					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.A18T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTTCATAGCAGCGTTCCTTTT	0.403000													19	128					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74524978	74524978	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:74524978C>A	ENST00000422840.2	-	8	1369	c.1370G>T	c.(1369-1371)cGa>cTa	p.R457L	GLG1_ENST00000447066.2_Missense_Mutation_p.R446L|GLG1_ENST00000205061.5_Missense_Mutation_p.R457L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	457						Golgi membrane|integral to membrane	receptor binding	p.R457L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCGCCCTTTTCGATGTAATCC	0.507000													28	133					1.75199e-13	2.12957e-13	1	1	0
DPPA5	340168	broad.mit.edu	37	6	74063075	74063075	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr6:74063075T>C	ENST00000370370.3	-	3	388	c.319A>G	c.(319-321)Aat>Gat	p.N107D		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	107					multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						TCGAGGGCATTCATGGCTTCG	0.527000													7	148					0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83984321	83984321	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr4:83984321G>C	ENST00000509093.1	+	7	1586	c.808G>C	c.(808-810)Gat>Cat	p.D270H	COPS4_ENST00000264389.2_Missense_Mutation_p.D270H|COPS4_ENST00000511653.1_Missense_Mutation_p.D270H|COPS4_ENST00000503682.1_Missense_Mutation_p.D270H	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	270	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding	p.D270H(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AATGTATCTAGATAGGATCAT	0.438000													10	72					0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9396492	9396492	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr18:9396492G>A	ENST00000262120.5	+	4	629	c.438G>A	c.(436-438)caG>caA	p.Q146Q	TWSG1_ENST00000581641.1_Silent_p.Q146Q	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	146										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CACACCACCAGAATGTGTCTG	0.443000													7	121					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95258704	95258704	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr9:95258704G>T	ENST00000344604.5	-	10	2142	c.1993C>A	c.(1993-1995)Ctt>Att	p.L665I	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	665					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCAAGATGAAGATGTTCCAGA	0.333000													8	92					0.00448238	0.00457982	1	1	0
TTC25	83538	broad.mit.edu	37	17	40093098	40093098	+	RNA	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:40093098C>G	ENST00000591658.1	+	0	611							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding	p.L181L(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AGGCCTCGCTCAAGAGTGAGA	0.507000													26	179					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113105796	113105796	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:113105796G>A	ENST00000316851.7	+	13	1705	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.E451K|NCAM1_ENST00000401611.2_Missense_Mutation_p.E578K	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	579	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCTGAAGCCCGAAACAACGTA	0.547000													4	9					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422991	26422991	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr22:26422991T>A	ENST00000335473.7	+	43	7301	c.7051T>A	c.(7051-7053)Tgc>Agc	p.C2351S	MYO18B_ENST00000407587.2_Missense_Mutation_p.C2352S|MYO18B_ENST00000536101.1_Missense_Mutation_p.C2351S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2351						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.C2352S(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ATTCAGTTCCTGCGAGTCCCT	0.562000													13	173					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904699	12904699	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:12904699G>T	ENST00000380659.3	+	3	1211	c.1072G>T	c.(1072-1074)Gca>Tca	p.A358S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	358					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	p.A358S(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GGTCTATCGTGCATCTATGAA	0.388000													25	150					8.24728e-16	1.02006e-15	1	1	0
NAT8	9027	broad.mit.edu	37	2	73868350	73868350	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:73868350G>A	ENST00000272425.3	-	2	555	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	136	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AGCTGCAACCGCTTCTCCCTC	0.582000													4	126					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59361700	59361700	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:59361700A>C	ENST00000263847.1	-	8	1819	c.1340T>G	c.(1339-1341)cTt>cGt	p.L447R		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	447	Sterol binding (By similarity).				lipid transport	Golgi membrane	oxysterol binding	p.L447R(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AAGGCGCTGAAGCATGGACAA	0.393000													13	80					0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062484	66062484	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:66062484G>A	ENST00000327259.4	+	2	911	c.767G>A	c.(766-768)cGc>cAc	p.R256H		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	256						integral to membrane		p.R256H(1)		central_nervous_system(1)|kidney(4)|lung(6)	11						CTGGAGGCGCGCGAGGGCATG	0.692000													6	30					0	0	1	0	0
PHKG2	5261	broad.mit.edu	37	16	30768316	30768316	+	Silent	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:30768316C>A	ENST00000563588.1	+	10	1358	c.1119C>A	c.(1117-1119)ctC>ctA	p.L373L	PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000328273.7_Silent_p.L377L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	373					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	p.L373L(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			GGGCGGCTCTCTTTCAGCACC	0.612000													26	168					1.66031e-10	1.92677e-10	1	1	0
NIPBL	25836	broad.mit.edu	37	5	36985803	36985803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr5:36985803C>T	ENST00000282516.8	+	10	3020	c.2521C>T	c.(2521-2523)Cga>Tga	p.R841*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R841*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	841					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.R841*(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTCTAGGGTTCGAAGACCAGA	0.403000													9	107					0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45559743	45559743	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:45559743G>A	ENST00000544944.2	+	5	1107	c.415G>A	c.(415-417)Gat>Aat	p.D139N	CLASRP_ENST00000391953.4_Missense_Mutation_p.D77N|CLASRP_ENST00000221455.3_Missense_Mutation_p.D139N			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	139					mRNA processing|RNA splicing	nucleus		p.D139N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GATCTACATTGATGAGTTGTA	0.572000													12	115					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80629227	80629227	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr6:80629227C>T	ENST00000369816.4	-	5	879	c.579G>A	c.(577-579)gtG>gtA	p.V193V		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	193					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups	p.V193V(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	AGTACATAATCACATGGATAA	0.363000													8	73					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913582	77913582	+	Silent	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:77913582T>C	ENST00000321110.1	-	2	631	c.336A>G	c.(334-336)ccA>ccG	p.P112P		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	112	Pro-rich.						nucleic acid binding|zinc ion binding	p.P112P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CCAGGGACTCTGGGGCTGCTG	0.642000													3	45					0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47569697	47569697	+	Silent	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:47569697C>A	ENST00000253048.5	-	15	3865	c.3828G>T	c.(3826-3828)ccG>ccT	p.P1276P	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1276							nucleic acid binding|zinc ion binding	p.P1276P(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCGCGGGCCGGACTGTTCC	0.637000													4	12					0.00909568	0.00919348	1	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C	rs142536398	by1000genomes	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:43587730A>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTATTGATTCATTTTATTCAT	0.343000													4	101					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14150265	14150265	+	Splice_Site	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr9:14150265C>A	ENST00000380959.3	-	5	1159		c.e5-1		NFIB_ENST00000380924.1_Splice_Site|NFIB_ENST00000380953.1_Splice_Site|NFIB_ENST00000380934.4_Splice_Site|NFIB_ENST00000397579.2_Splice_Site|NFIB_ENST00000543693.1_Splice_Site|NFIB_ENST00000397575.3_Splice_Site|NFIB_ENST00000397581.2_Splice_Site	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B						anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GTTATGGGCGCTGAGGAATAA	0.438000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								27	326					1.5548e-18	1.94006e-18	1	1	0
FUT3	2525	broad.mit.edu	37	19	5844225	5844225	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:5844225T>C	ENST00000303225.6	-	3	1260	c.626A>G	c.(625-627)tAc>tGc	p.Y209C	FUT3_ENST00000458379.2_Missense_Mutation_p.Y209C|FUT3_ENST00000589918.1_Missense_Mutation_p.Y209C|FUT3_ENST00000589620.1_Missense_Mutation_p.Y209C	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	209					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	p.Y209C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCTCTGGTAGTAGCGCACCCT	0.657000													13	124					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924124	227924124	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:227924124C>T	ENST00000396625.3	-	28	2587	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	COL4A4_ENST00000329662.7_Missense_Mutation_p.E794K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	794	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.E794K(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTCATACCTTCAGCCCCTGGA	0.517000													25	254					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49042348	49042348	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:49042348G>T	ENST00000343546.4	+	6	1310	c.942G>T	c.(940-942)ctG>ctT	p.L314L	P4HTM_ENST00000383729.4_Silent_p.L314L	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	314	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L314L(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GCGAGCCGCTGCAGGTTGTTC	0.637000													12	100					1.56452e-12	1.87743e-12	1	1	0
CNTN5	53942	broad.mit.edu	37	11	100169956	100169956	+	Silent	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:100169956T>C	ENST00000524871.1	+	20	2738	c.2448T>C	c.(2446-2448)aaT>aaC	p.N816N	CNTN5_ENST00000527185.1_Silent_p.N816N|CNTN5_ENST00000279463.3_Silent_p.N816N|CNTN5_ENST00000528682.1_Silent_p.N816N|CNTN5_ENST00000418526.2_Silent_p.N742N|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	816	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCAGACCCAATGGAACACGTG	0.398000													7	23					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486227	37486227	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr10:37486227C>G	ENST00000374660.1	+	34	2921	c.2822C>G	c.(2821-2823)tCt>tGt	p.S941C	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S822C|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S822C			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	996						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S822F(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGAAGCCATCTGCCTTCGAG	0.328000													7	275					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83640502	83640502	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:83640502G>A	ENST00000265362.3	-	8	1236	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	SEMA3A_ENST00000436949.1_Silent_p.L308L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	308	Sema.				axon guidance	extracellular region|membrane	receptor activity	p.L308L(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTCTTACGCAGTTCATCAAAA	0.383000													14	99					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34514476	34514476	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr9:34514476C>G	ENST00000242317.4	+	17	1825	c.1654C>G	c.(1654-1656)Cac>Gac	p.H552D		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	552					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	p.H552D(1)		autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GAACCCATACCACACCAAGGT	0.572000									Kartagener syndrome				11	163					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164725726	164725726	+	Missense_Mutation	SNP	C	C	T	rs145734588	byFrequency	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:164725726C>T	ENST00000264382.3	-	36	4302	c.4240G>A	c.(4240-4242)Gaa>Aaa	p.E1414K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1414	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.E1414K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAATTTAGTTCGTCATTTCTG	0.264000										HNSCC(35;0.089)			10	100					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577081	7577081	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:7577081T>C	ENST00000420246.2	-	8	989	c.857A>G	c.(856-858)gAa>gGa	p.E286G	TP53_ENST00000445888.2_Missense_Mutation_p.E286G|TP53_ENST00000455263.2_Missense_Mutation_p.E286G|TP53_ENST00000269305.4_Missense_Mutation_p.E286G|TP53_ENST00000359597.4_Missense_Mutation_p.E286G|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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 by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGATTCTCTTCCTCTGTGCG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	62					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191367	152191367	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:152191367G>T	ENST00000368801.2	-	3	2813	c.2738C>A	c.(2737-2739)tCc>tAc	p.S913Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	913					keratinization		calcium ion binding|protein binding	p.S913Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCGACCGGAGCCAGACCC	0.637000													47	334					5.13769e-22	6.46798e-22	1	1	0
GOLGA6C	653641	broad.mit.edu	37	15	75562493	75562493	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr15:75562493C>A	ENST00000300576.5	+	18	2035	c.2035C>A	c.(2035-2037)Ccg>Acg	p.P679T		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	679										ovary(1)	1						TGACAACCCCCCGGTACAGCA	0.602000													7	166					0.000157383	0.000165605	1	1	0
SLC26A9	115019	broad.mit.edu	37	1	205890767	205890767	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:205890767G>C	ENST00000367135.3	-	17	2095	c.1982C>G	c.(1981-1983)aCc>aGc	p.T661S	SLC26A9_ENST00000367134.2_Missense_Mutation_p.T661S|SLC26A9_ENST00000340781.4_Missense_Mutation_p.T661S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	661	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	p.T661S(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGTGTGGAAGGTGACGAAGGG	0.647000													6	20					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85576586	85576586	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:85576586C>T	ENST00000295802.4	-	5	1030	c.918G>A	c.(916-918)gtG>gtA	p.V306V	RETSAT_ENST00000457495.2_Silent_p.V245V|RETSAT_ENST00000263854.6_Silent_p.V306V	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	306					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.V306V(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CCCGCTGAATCACAGGGATGG	0.592000													16	107					0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607000													7	75					1	1	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40702915	40702915	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr12:40702915G>T	ENST00000298910.7	+	30	4255	c.4197G>T	c.(4195-4197)gaG>gaT	p.E1399D		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1399	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.E1399D(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAGGTCGTGAGGAATTCTATA	0.368000													12	90					7.93312e-07	8.7731e-07	1	1	0
UQCRH	7388	broad.mit.edu	37	1	46775912	46775912	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:46775912G>A	ENST00000311672.5	+	3	303	c.167G>A	c.(166-168)cGt>cAt	p.R56H		NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	56					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGTGATGAGCGTGTATCCTCT	0.512000													4	198					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74920199	74920199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:74920199G>A	ENST00000262144.6	-	24	2645	c.2515C>T	c.(2515-2517)Cga>Tga	p.R839*		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	839								p.R839*(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TCGCGTTCTCGCTCACGGGGA	0.547000													34	161					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643049	1643049	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:1643049A>C	ENST00000399682.1	-	1	319	c.275T>G	c.(274-276)gTc>gGc	p.V92G		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	92	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.V92G(2)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGACACAGCCCCC	0.682000													5	114					0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40723661	40723661	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:40723661G>C	ENST00000309930.5	+	13	1141	c.1117G>C	c.(1117-1119)Gtc>Ctc	p.V373L	C7orf10_ENST00000401647.2_Intron|C7orf10_ENST00000335693.4_Intron	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	370							transferase activity	p.V373L(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						atagaacgctgtctctggctt	0.468000													8	65					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154940731	154940731	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:154940731G>A	ENST00000448116.2	-	5	973	c.753C>T	c.(751-753)atC>atT	p.I251I	SHC1_ENST00000368445.5_Silent_p.I251I|SHC1_ENST00000368453.4_Silent_p.I141I|SHC1_ENST00000606391.1_Silent_p.I52I|SHC1_ENST00000368450.1_Silent_p.I141I|SHC1_ENST00000368449.4_Silent_p.I22I	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	251	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.I141I(1)|p.I251I(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTTGGCGATGATCTGAGAAT	0.567000													21	313					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52149116	52149116	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:52149116G>T	ENST00000360844.6	-	3	660	c.619C>A	c.(619-621)Cat>Aat	p.H207N	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	207	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.H207N(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTGGTGCCATGGTCCTCGGGC	0.632000													10	65					1.58986e-06	1.75133e-06	1	1	0
TNFRSF11A	8792	broad.mit.edu	37	18	60028991	60028991	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr18:60028991G>T	ENST00000586569.1	+	7	733	c.695G>T	c.(694-696)gGc>gTc	p.G232V	TNFRSF11A_ENST00000269485.7_Intron	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	232					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.G232V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				ATCATCTTTGGCGTTTGCTAT	0.413000													54	268					5.82388e-19	7.29927e-19	1	1	0
PIH1D3	139212	broad.mit.edu	37	X	106466059	106466059	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:106466059C>T	ENST00000535523.1	+	6	754	c.417C>T	c.(415-417)tgC>tgT	p.C139C	PIH1D3_ENST00000372453.3_Silent_p.C139C|PIH1D3_ENST00000336387.4_Silent_p.C139C	NM_001169154.1	NP_001162625.1			PIH1 domain containing 3									p.C139C(1)									CAGGTTGTTGCAGTGAACTAG	0.358000													13	123					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203560	56203560	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr18:56203560C>G	ENST00000361673.3	-	5	4072	c.3859G>C	c.(3859-3861)Gaa>Caa	p.E1287Q	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1287							ATP binding|protein serine/threonine kinase activity	p.E1287Q(1)|p.E648Q(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGGGCCAATTCAGGCACAACA	0.507000													7	179					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84383358	84383358	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:84383358C>A	ENST00000260505.8	-	14	1893	c.1516G>T	c.(1516-1518)Gat>Tat	p.D506Y	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	506					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.D506Y(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCCAGAAGATCCAAAATATCT	0.328000													8	55					1.12685e-05	1.21752e-05	1	1	0
ITIH5	80760	broad.mit.edu	37	10	7614359	7614359	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr10:7614359G>T	ENST00000397145.2	-	12	2140	c.2035C>A	c.(2035-2037)Cgt>Agt	p.R679S	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000256861.6_Intron	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	679					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGAAGCCACGAACTGAAAAA	0.363000													16	34					2.62699e-14	3.20697e-14	1	1	0
MOGS	7841	broad.mit.edu	37	2	74690085	74690085	+	Silent	SNP	T	T	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:74690085T>G	ENST00000233616.4	-	4	993	c.831A>C	c.(829-831)gtA>gtC	p.V277V	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.V171V|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	277					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	p.V277V(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCGACTCTTTACCATCTCTG	0.537000													38	245					0	0	1	0	0
CRYBB1	1414	broad.mit.edu	37	22	27003956	27003956	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr22:27003956C>T	ENST00000215939.2	-	4	459	c.329G>A	c.(328-330)cGc>cAc	p.R110H		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	110	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens	p.R110H(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CATCTCCCCGCGGAAGTTGGA	0.567000													7	110					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34575410	34575410	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr20:34575410C>G	ENST00000373973.3	+	7	983	c.810C>G	c.(808-810)atC>atG	p.I270M	CNBD2_ENST00000349339.1_Missense_Mutation_p.I270M|CNBD2_ENST00000538900.1_Missense_Mutation_p.I270M					cyclic nucleotide binding domain containing 2																		GGCAGCTGATCTCAAAAGATT	0.498000													3	50					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234358641	234358641	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:234358641G>C	ENST00000264057.2	+	16	1914	c.1902G>C	c.(1900-1902)caG>caC	p.Q634H	DGKD_ENST00000409813.3_Missense_Mutation_p.Q590H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	634					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	p.Q634H(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCGATGAGCAGAATGCCCAGA	0.632000													13	67					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36705386	36705386	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:36705386G>A	ENST00000264659.7	-	16	3247	c.3023C>T	c.(3022-3024)cCt>cTt	p.P1008L	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1042L	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	880					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CCGGCGGGGAGGGGGCGGTGG	0.657000													4	42					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618739	52618739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:52618739G>A	ENST00000600228.1	-	4	1939	c.1678C>T	c.(1678-1680)Caa>Taa	p.Q560*	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q560*(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CGTGAACATTGACTGAAGACC	0.438000													16	118					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													3	109					0	0	1	0	0
PALM2	114299	broad.mit.edu	37	9	112705636	112705636	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr9:112705636G>C	ENST00000448454.2	+	8	1173	c.1173G>C	c.(1171-1173)gaG>gaC	p.E391D	PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.E389D|PALM2_ENST00000374531.2_Missense_Mutation_p.E357D|PALM2_ENST00000483909.1_Missense_Mutation_p.E355D|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron					paralemmin 2									p.E357D(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GGAAGGAAGAGAGCCTAGCTA	0.557000													6	136					0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70732859	70732859	+	Splice_Site	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:70732859C>G	ENST00000542342.2	-	7	711		c.e7-1		SLC39A11_ENST00000255559.3_Splice_Site	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11						zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.?(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCGAGACCCTCTGAAATAGAT	0.483000													21	168					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16459784	16459784	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:16459784C>T	ENST00000358432.5	-	11	2098	c.1944G>A	c.(1942-1944)ctG>ctA	p.L648L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	648	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGCCGGCTTTCAGCGTCTTGA	0.607000													12	138					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95258713	95258713	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr9:95258713G>C	ENST00000344604.5	-	10	2133	c.1984C>G	c.(1984-1986)Ctg>Gtg	p.L662V	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	662					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AGATGTTCCAGATTTGAGTCA	0.328000													9	92					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58080588	58080588	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:58080588G>T	ENST00000357272.4	+	5	978	c.813G>T	c.(811-813)gtG>gtT	p.V271V	FLNB_ENST00000490882.1_Silent_p.V271V|FLNB_ENST00000358537.3_Silent_p.V271V|FLNB_ENST00000348383.5_Silent_p.V271V|FLNB_ENST00000295956.4_Silent_p.V271V|FLNB_ENST00000429972.2_Silent_p.V271V|FLNB_ENST00000419752.2_Silent_p.V102V|FLNB_ENST00000493452.1_Silent_p.V102V			O75369	FLNB_HUMAN	filamin B, beta	271					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.V271V(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GAAACATGGTGAAGCAGCCAG	0.537000													38	313					1.07121e-22	1.36072e-22	1	1	0
RNF180	285671	broad.mit.edu	37	5	63509899	63509899	+	Missense_Mutation	SNP	A	A	T	rs142108516		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr5:63509899A>T	ENST00000389100.4	+	4	818	c.746A>T	c.(745-747)cAt>cTt	p.H249L	RNF180_ENST00000296615.6_Missense_Mutation_p.H249L|RNF180_ENST00000381081.2_Intron	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	249						integral to membrane|nuclear envelope	zinc ion binding	p.H249L(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TATGAAATACATAGTAAGACT	0.358000													23	149					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24843425	24843425	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr6:24843425C>G	ENST00000259698.4	-	14	1760	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	FAM65B_ENST00000510784.2_Missense_Mutation_p.E513Q|FAM65B_ENST00000540914.1_Missense_Mutation_p.E479Q|FAM65B_ENST00000538035.1_Missense_Mutation_p.E508Q|FAM65B_ENST00000378023.4_Missense_Mutation_p.E479Q	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	529					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.E479Q(1)|p.E529Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AACAGGTGCTCAGCCCCAGCA	0.572000													21	116					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7079078	7079078	+	Splice_Site	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:7079078C>A	ENST00000299481.4	+	7	2808	c.2462_splice	c.e7+1	p.S821_splice		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	821					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.S821Y(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAGAGACTGTCGTGAGTGTTT	0.398000													12	110					1.08611e-07	1.22025e-07	1	1	0
RCC2	55920	broad.mit.edu	37	1	17755624	17755624	+	Silent	SNP	T	T	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:17755624T>A	ENST00000375436.4	-	3	544	c.357A>T	c.(355-357)cgA>cgT	p.R119R	RCC2_ENST00000375433.3_Silent_p.R119R	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	119					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		p.R119R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GCACTTCTTTTCGACCAATCA	0.443000													9	75					0	0	1	0	0
L3HYPDH	112849	broad.mit.edu	37	14	59946062	59946062	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr14:59946062C>T	ENST00000247194.4	-	2	629	c.516G>A	c.(514-516)atG>atA	p.M172I	RP11-701B16.2_ENST00000554253.1_RNA|L3HYPDH_ENST00000487285.1_Start_Codon_SNP_p.M1I	NM_144581.1	NP_653182.1			L-3-hydroxyproline dehydratase (trans-)																		GAACATCCACCATGAGATCTA	0.318000													6	77					0	0	1	0	0
FARSA	2193	broad.mit.edu	37	19	13035487	13035487	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:13035487G>A	ENST00000588025.1	-	11	1421	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	FARSA_ENST00000423140.2_Silent_p.L356L|FARSA_ENST00000314606.4_Silent_p.L387L			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	387					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	p.L387L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GAACGCCCATGAGGTGGCCCA	0.637000													17	77					0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106694260	106694260	+	Silent	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:106694260C>A	ENST00000409944.1	+	5	448	c.217C>A	c.(217-219)Cga>Aga	p.R73R	C2orf40_ENST00000238044.3_Silent_p.R109R			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	109						extracellular region|transport vesicle		p.R109R(1)		lung(7)|urinary_tract(1)	8						TAACAGAGATCGAAATGGACA	0.453000													18	114					3.32936e-07	3.71099e-07	1	1	0
GBP6	163351	broad.mit.edu	37	1	89846103	89846103	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:89846103C>T	ENST00000370456.4	+	6	877	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	GBP6_ENST00000535065.1_Nonsense_Mutation_p.Q132*	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	262							GTP binding|GTPase activity	p.Q262*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TCCCAAATTCCAGGAACAAAC	0.438000													15	56					0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607089	131607089	+	Silent	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr5:131607089C>A	ENST00000253754.3	+	5	664	c.600C>A	c.(598-600)ccC>ccA	p.P200P	PDLIM4_ENST00000379018.3_Silent_p.P200P|P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000484620.1_3'UTR	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	200							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCCGAGCCCGTGGCCGCGG	0.701000													6	42					0.217242	0.218794	1	1	0
C5orf51	285636	broad.mit.edu	37	5	41909851	41909851	+	Missense_Mutation	SNP	A	A	T	rs142210354	byFrequency	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr5:41909851A>T	ENST00000381647.2	+	3	230	c.211A>T	c.(211-213)Att>Ttt	p.I71F	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	71										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTTTTAGGCTATTTTGGACAT	0.299000													8	54					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349436	103349436	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:103349436G>A	ENST00000357421.4	-	2	685	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	169					transport	integral to membrane|mitochondrial inner membrane		p.R169W(1)									AGTGACAGCCGCCCCCAAAGC	0.532000													34	227					0	0	1	0	0
ZNF763	284390	broad.mit.edu	37	19	12087895	12087895	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:12087895G>T	ENST00000343949.5	+	2	210	c.55G>T	c.(55-57)Gag>Tag	p.E19*	ZNF763_ENST00000592625.1_Nonsense_Mutation_p.E16*|ZNF763_ENST00000538752.1_Nonsense_Mutation_p.E36*|ZNF763_ENST00000591944.1_Nonsense_Mutation_p.E85*|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000590798.1_Nonsense_Mutation_p.E36*|ZNF763_ENST00000358987.3_Nonsense_Mutation_p.E16*	NM_001012753.1	NP_001012771.1			zinc finger protein 763									p.E18*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CTTCACCCAGGAGGAGTGGGC	0.507000													21	200					6.21321e-17	7.71862e-17	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43944770	43944770	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr12:43944770C>A	ENST00000389420.3	-	2	394	c.395G>T	c.(394-396)cGc>cTc	p.R132L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R132L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	132						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GACCTGGCCGCGGTAGAAGCA	0.652000													9	27					5.68852e-11	6.65628e-11	1	1	0
NPHP4	261734	broad.mit.edu	37	1	6029307	6029307	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:6029307G>A	ENST00000378156.4	-	4	557	c.292C>T	c.(292-294)Cac>Tac	p.H98Y	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	98					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGATGTGTGAAAATACAAG	0.562000													4	17					0	0	1	0	0
CDR1	1038	broad.mit.edu	37	X	139865753	139865753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:139865753C>T	ENST00000370532.2	-	1	970	c.779G>A	c.(778-780)tGg>tAg	p.W260*		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	260								p.W260*(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CTAGATCTTCCAGTCAATCAG	0.413000													24	185					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37566052	37566052	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:37566052G>A	ENST00000300651.6	-	17	2645	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	808	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R808*(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAAGAATCTCGAAGAGGGGTG	0.443000										HNSCC(31;0.082)			42	110					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5138691	5138691	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr10:5138691G>C	ENST00000380554.3	+	2	826	c.174G>C	c.(172-174)gaG>gaC	p.E58D	AKR1C3_ENST00000439082.2_5'UTR|AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000605149.1_Missense_Mutation_p.E35D	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	58					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.E58D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ACAATAATGAGGAGCAGGTTG	0.438000													32	123					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763598	113763598	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:113763598C>T	ENST00000259211.6	+	2	469	c.58C>T	c.(58-60)Cat>Tat	p.H20Y		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	20					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding	p.H20Y(1)		large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GGATATCAATCATCGGGTGTG	0.473000													12	131					0	0	1	0	0
SCML1	6322	broad.mit.edu	37	X	17762333	17762333	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:17762333C>G	ENST00000380043.3	+	2	355	c.27C>G	c.(25-27)atC>atG	p.I9M	SCML1_ENST00000380045.3_Intron|SCML1_ENST00000380041.3_Missense_Mutation_p.I9M|SCML1_ENST00000398080.1_Intron	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	9					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.I9M(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CCAGTGAAATCGATGTGGTTT	0.328000													16	121					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54912529	54912529	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:54912529C>T	ENST00000284061.3	+	2	553	c.373C>T	c.(373-375)Cac>Tac	p.H125Y	C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000576869.1_3'UTR|DGKE_ENST00000572810.1_Missense_Mutation_p.H125Y	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	125					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	p.H125Y(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CGCCATGCCCCACCACTGGAT	0.577000													20	132					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151884816	151884816	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:151884816A>C	ENST00000355193.2	-	32	4995	c.4777T>G	c.(4777-4779)Tct>Gct	p.S1593A	KMT2C_ENST00000262189.6_Missense_Mutation_p.S1593A					lysine (K)-specific methyltransferase 2C									p.S1593A(2)									TCAGGATAAGAGGATTGTGCA	0.388000													18	133					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58145430	58145430	+	Missense_Mutation	SNP	C	C	A	rs104894340		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr12:58145430C>A	ENST00000257904.6	-	2	436	c.71G>T	c.(70-72)cGt>cTt	p.R24L	CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000312990.6_Missense_Mutation_p.R24L|CDK4_ENST00000549606.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	24	Protein kinase.		R -> C (in CMM3; somatic and familial; generates a dominant oncogene resistant to inhibition by p16(INK4a); dbSNP:rs11547328).|R -> H (in CMM3).		cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.R24L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GTGGGGATCACGGGCCTTGTA	0.557000			Mis			melanoma			Hereditary Melanoma				9	96					1.76689e-08	2.00106e-08	1	1	0
POLG2	11232	broad.mit.edu	37	17	62492601	62492601	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:62492601C>T	ENST00000539111.2	-	1	553	c.486G>A	c.(484-486)ctG>ctA	p.L162L		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	162					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	p.L162L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GTTCCTTACTCAGCTCTTTGT	0.473000													24	204					0	0	1	0	0
PPM1J	333926	broad.mit.edu	37	1	113253122	113253122	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:113253122C>G	ENST00000464951.1	-	10	2120	c.712G>C	c.(712-714)Gac>Cac	p.D238H	RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G125A|PPM1J_ENST00000309276.6_Missense_Mutation_p.D444H|RP11-426L16.10_ENST00000471038.2_5'UTR|PPM1J_ENST00000359994.4_Missense_Mutation_p.D238H			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	444	PP2C-like.							p.D444H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	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)		AGCACCCTGTCCACAGTGGCA	0.547000													15	105					0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88854698	88854698	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr6:88854698C>G	ENST00000537554.1	-	2	3858	c.296G>C	c.(295-297)gGg>gCg	p.G99A	CNR1_ENST00000549716.1_Missense_Mutation_p.G38A|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.G99A|CNR1_ENST00000549890.1_Missense_Mutation_p.G99A|CNR1_ENST00000369501.2_Missense_Mutation_p.G99A|CNR1_ENST00000468898.1_Missense_Mutation_p.G66A|CNR1_ENST00000369499.2_Missense_Mutation_p.G99A|CNR1_ENST00000535130.1_Missense_Mutation_p.G99A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	99					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.G99A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAAGTTCTCCCCACACTGGAT	0.532000													4	73					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196664163	196664163	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:196664163T>C	ENST00000312428.6	-	55	10310	c.10210A>G	c.(10210-10212)Aga>Gga	p.R3404G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3404	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R3404G(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CGTCCCAATCTGTTGATTATA	0.393000													12	133					0	0	1	0	0
MLANA	2315	broad.mit.edu	37	9	5892506	5892506	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr9:5892506G>T	ENST00000381477.3	+	2	192	c.32G>T	c.(31-33)gGt>gTt	p.G11V	MLANA_ENST00000381471.1_Missense_Mutation_p.G11V|MLANA_ENST00000381476.1_Missense_Mutation_p.G11V	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A	11						endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network	protein binding	p.G11V(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		TTCATCTATGGTTACCCCAAG	0.517000													10	69					2.27111e-07	2.54148e-07	1	1	0
OR4A5	81318	broad.mit.edu	37	11	51412143	51412143	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:51412143A>T	ENST00000319760.6	-	1	305	c.253T>A	c.(253-255)Tgt>Agt	p.C85S		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C85S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TTTTTATCACAGAATAAGCCT	0.438000													10	88					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375010	113375010	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:113375010G>C	ENST00000316407.4	-	7	5929	c.5519C>G	c.(5518-5520)tCa>tGa	p.S1840*	KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.S1840*|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1840					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.S1840*(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTGATGTTCTGAGAGTGACCT	0.448000													10	135					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39728776	39728776	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr20:39728776C>G	ENST00000361337.2	+	12	1306	c.1056C>G	c.(1054-1056)aaC>aaG	p.N352K	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	352					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	p.N352K(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GGATTGCTAACTTCAAGATAG	0.428000			T	NUP98	AML*								12	71					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30972797	30972797	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:30972797C>T	ENST00000262519.8	+	4	1142	c.456C>T	c.(454-456)gtC>gtT	p.V152V		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	152	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.V152V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGAAACGGTCAAAAACCTCC	0.597000													17	131					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150883660	150883660	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:150883660C>T	ENST00000474524.1	+	10	1423	c.1385C>T	c.(1384-1386)aCg>aTg	p.T462M	MED12L_ENST00000309237.4_Missense_Mutation_p.T462M|MED12L_ENST00000422248.2_Missense_Mutation_p.T462M|MED12L_ENST00000273432.4_Missense_Mutation_p.T322M	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	462					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.T462M(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTTTGCACACGTTGGAAGTT	0.383000													22	153					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038823	75038823	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:75038823G>T	ENST00000326665.5	-	14	2789	c.2571C>A	c.(2569-2571)gaC>gaA	p.D857E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	857	Glu-rich.							p.D857E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTCCTATGGGGTCTGACCCCC	0.527000													28	181					4.22769e-11	4.96754e-11	1	1	0
DNM1P47	100216544	broad.mit.edu	37	15	102292726	102292726	+	RNA	SNP	G	G	A	rs150565409	by1000genomes	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr15:102292726G>A	ENST00000561463.1	+	0	772																											TGGGAACAAGGAGACACTCCT	0.582000													16	47					0	0	1	0	0
LEF1	51176	broad.mit.edu	37	4	109088908	109088908	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr4:109088908C>T	ENST00000379951.2	-	1	1204	c.16G>A	c.(16-18)Gga>Aga	p.G6R	LEF1_ENST00000438313.2_Missense_Mutation_p.G6R|LEF1_ENST00000265165.1_Missense_Mutation_p.G6R|LEF1-AS1_ENST00000436413.1_RNA	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	6	CTNNB1-binding (By similarity).|Poly-Gly.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.G6R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CCACCTCCTCCGGAGAGTTGG	0.647000													21	154					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135621051	135621051	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:135621051G>A	ENST00000356140.5	+	5	472	c.336G>A	c.(334-336)gtG>gtA	p.V112V	ACMSD_ENST00000392928.1_Silent_p.V54V|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Silent_p.V54V	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	112					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	p.V112V(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		GGAGGTTCGTGGGTCTGGGGA	0.592000													11	107					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49042350	49042350	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:49042350A>C	ENST00000343546.4	+	6	1312	c.944A>C	c.(943-945)cAg>cCg	p.Q315P	P4HTM_ENST00000383729.4_Missense_Mutation_p.Q315P	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	315	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.Q315P(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GAGCCGCTGCAGGTTGTTCGA	0.637000													12	95					0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90034222	90034222	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr4:90034222G>A	ENST00000317005.2	+	1	255	c.97G>A	c.(97-99)Gtg>Atg	p.V33M		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	33	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.V33M(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAAACTTTCCGTGGTGTACGG	0.373000													18	111					0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10823252	10823252	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:10823252G>C	ENST00000250237.5	+	7	819	c.809G>C	c.(808-810)tGc>tCc	p.C270S		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	270					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	p.C270S(1)		large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CTGGTAGTCTGCGTGGCTCTT	0.642000													22	283					0	0	1	0	0
NUDT11	55190	broad.mit.edu	37	X	51239057	51239057	+	Silent	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:51239057C>A	ENST00000375992.3	-	1	391	c.240G>T	c.(238-240)ctG>ctT	p.L80L		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	80	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.L80L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CGAAGACGCCCAGGAGCCGGC	0.617000										HNSCC(48;0.14)			10	104					2.80697e-09	3.23088e-09	1	1	0
FAM120C	54954	broad.mit.edu	37	X	54161289	54161289	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:54161289C>T	ENST00000375180.2	-	7	1647	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	FAM120C_ENST00000328235.4_Missense_Mutation_p.D531N	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	531								p.D531N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TTTGGCTCATCACCATCAGAG	0.463000													4	61					0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6636182	6636182	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:6636182T>C	ENST00000533371.1	-	11	1535	c.737A>G	c.(736-738)aAt>aGt	p.N246S	TPP1_ENST00000299427.6_Missense_Mutation_p.N489S			O14773	TPP1_HUMAN	tripeptidyl peptidase I	489					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.N489S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CCTGTGCTCATTGATCAAGGA	0.527000													61	201					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84245390	84245390	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr15:84245390G>T	ENST00000324537.5	+	9	1037	c.545G>T	c.(544-546)cGa>cTa	p.R182L	SH3GL3_ENST00000434347.1_Missense_Mutation_p.R182L|SH3GL3_ENST00000535412.1_Missense_Mutation_p.R174L|SH3GL3_ENST00000427482.2_Missense_Mutation_p.R174L			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	174	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.R182L(2)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AAAAAGAAACGAGTAGGTAAG	0.398000													7	60					0.000157383	0.000165605	1	1	0
TTN	7273	broad.mit.edu	37	2	179479392	179479392	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:179479392G>T	ENST00000589042.1	-	261	49073	c.48849C>A	c.(48847-48849)acC>acA	p.T16283T	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.T14642T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.T13715T|TTN_ENST00000342175.6_Silent_p.T7410T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.T7343T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.T7218T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14642	Fibronectin type-III 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T13715T(2)|p.T7218T(1)|p.T7410T(1)|p.T7343T(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)			CAGGTTTTCCGGTTACGGTGG	0.433000													5	48					0.00116845	0.00120697	1	1	0
ANKRD7	56311	broad.mit.edu	37	7	117876197	117876197	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:117876197C>G	ENST00000357099.4	+	5	804	c.631C>G	c.(631-633)Caa>Gaa	p.Q211E	ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Missense_Mutation_p.Q138E|ANKRD7_ENST00000265224.4_Missense_Mutation_p.Q191E|ANKRD7_ENST00000417525.1_Missense_Mutation_p.Q138E			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	191					male gonad development			p.Q211E(1)|p.Q211*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						AGATAATTATCAAAGGTATAA	0.363000													21	80					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57063703	57063703	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:57063703C>T	ENST00000436936.1	+	9	2487	c.2262C>T	c.(2260-2262)ctC>ctT	p.L754L	NLRC5_ENST00000539144.1_Silent_p.L754L|NLRC5_ENST00000308149.7_Silent_p.L754L|NLRC5_ENST00000262510.6_Silent_p.L754L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	754					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	p.L754L(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ACAACCAGCTCAGTGACCAGG	0.582000													10	42					0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85680674	85680674	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr12:85680674G>T	ENST00000316824.3	+	3	730	c.575G>T	c.(574-576)cGt>cTt	p.R192L		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	192					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R192L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		AAAAGGGAACGTTATGGCCAA	0.353000													11	79					4.68919e-08	5.28941e-08	1	1	0
POLR2A	5430	broad.mit.edu	37	17	7405004	7405004	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:7405004A>G	ENST00000322644.6	+	14	2704	c.2305A>G	c.(2305-2307)Atg>Gtg	p.M769V		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	769					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.M769V(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTTCAAGTCTATGGTCGTGTC	0.483000													19	81					0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47835779	47835779	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:47835779G>T	ENST00000396965.1	-	7	2057	c.1707C>A	c.(1705-1707)ccC>ccA	p.P569P	ZNF182_ENST00000305127.6_Silent_p.P569P|ZNF182_ENST00000376943.3_Silent_p.P550P	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P569P(1)|p.P550P(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGCATGCATAGGGTTTCTCTC	0.423000													14	92					4.3838e-07	4.86705e-07	1	1	0
CUBN	8029	broad.mit.edu	37	10	16996511	16996511	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr10:16996511C>A	ENST00000377833.4	-	32	4797	c.4732G>T	c.(4732-4734)Gcc>Tcc	p.A1578S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1578	CUB 10.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.A1578S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACGTCCTGGCAAGGCGGGAC	0.527000													32	101					3.69857e-22	4.67711e-22	1	1	0
BAIAP3	8938	broad.mit.edu	37	16	1392790	1392790	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:1392790T>A	ENST00000324385.5	+	13	1399	c.1241T>A	c.(1240-1242)cTg>cAg	p.L414Q	BAIAP3_ENST00000426824.3_Missense_Mutation_p.L379Q|BAIAP3_ENST00000562208.1_Missense_Mutation_p.L356Q|BAIAP3_ENST00000397488.2_Missense_Mutation_p.L396Q|BAIAP3_ENST00000421665.2_Missense_Mutation_p.L343Q|BAIAP3_ENST00000568887.1_Missense_Mutation_p.L351Q|BAIAP3_ENST00000397489.1_Missense_Mutation_p.L396Q	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	414					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.L414Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AGCCATCTGCTGCGGTTGGAG	0.672000													6	45					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55912864	55912864	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr10:55912864G>T	ENST00000373965.2	-	15	2195	c.1801C>A	c.(1801-1803)Cga>Aga	p.R601R	PCDH15_ENST00000395445.1_Silent_p.R601R|PCDH15_ENST00000373957.3_Silent_p.R572R|PCDH15_ENST00000395432.2_Silent_p.R557R|PCDH15_ENST00000414778.1_Silent_p.R599R|PCDH15_ENST00000373955.1_Silent_p.R594R|PCDH15_ENST00000395430.1_Silent_p.R594R|PCDH15_ENST00000320301.6_Silent_p.R594R|PCDH15_ENST00000395438.1_Silent_p.R594R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Silent_p.R594R|PCDH15_ENST00000361849.3_Silent_p.R594R|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Silent_p.R572R|PCDH15_ENST00000395446.1_Silent_p.R594R|PCDH15_ENST00000409834.1_Silent_p.R205R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	594	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R599R(2)|p.R594R(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATTACCTTCGCTCTGCAGGA	0.458000										HNSCC(58;0.16)			11	46					3.07112e-06	3.3568e-06	1	1	0
KALRN	8997	broad.mit.edu	37	3	124141758	124141758	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:124141758C>T	ENST00000360013.3	+	15	2763	c.2636C>T	c.(2635-2637)gCa>gTa	p.A879V	KALRN_ENST00000240874.3_Missense_Mutation_p.A879V|KALRN_ENST00000460856.1_Missense_Mutation_p.A879V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	879					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGCTCAATGCAGAGCAGACT	0.488000													12	94					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77373668	77373668	+	Splice_Site	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:77373668G>C	ENST00000373316.4	+	6	808		c.e6+1		PGK1_ENST00000537456.1_Splice_Site|PGK1_ENST00000442431.1_Splice_Site	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1						gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.?(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TCCTGGGCGGGTATGAAGAAC	0.478000													20	153					0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	645015	645015	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr18:645015G>A	ENST00000581619.1	+	8	2237	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000338387.7_Missense_Mutation_p.E439K|CLUL1_ENST00000579494.1_Missense_Mutation_p.E439K|CLUL1_ENST00000400606.2_Missense_Mutation_p.E439K|CLUL1_ENST00000540035.1_Missense_Mutation_p.E491K			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	439					cell death	extracellular region		p.E439K(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GATCCCTCTTGAAGAAAGTGC	0.393000													12	79					0	0	1	0	0
XBP1	7494	broad.mit.edu	37	22	29191414	29191414	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr22:29191414G>A	ENST00000344347.5	-	6	879	c.880C>T	c.(880-882)Cac>Tac	p.H294Y	XBP1_ENST00000216037.6_3'UTR|XBP1_ENST00000405219.3_3'UTR|XBP1_ENST00000403532.3_3'UTR			P17861	XBP1_HUMAN	X-box binding protein 1	0					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						AATTCAGGGTGATCATTCTCT	0.488000													4	10					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48677227	48677227	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:48677227G>A	ENST00000544264.1	-	35	10086	c.9806C>T	c.(9805-9807)tCa>tTa	p.S3269L	CELSR3_ENST00000164024.4_Missense_Mutation_p.S3264L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3264					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.S3264L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTGTGCTTGAAGATTGCAC	0.597000													23	210					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85066407	85066407	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:85066407C>T	ENST00000335459.5	-	3	915	c.710G>A	c.(709-711)cGc>cAc	p.R237H	TRABD2A_ENST00000409133.1_Missense_Mutation_p.R286H|TRABD2A_ENST00000409520.2_Missense_Mutation_p.R286H	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		AGCAGTGATGCGCTCCTGAGG	0.453000													3	58					0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399605	46399605	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:46399605G>A	ENST00000292301.4	+	2	1072	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	CCR2_ENST00000400888.2_Missense_Mutation_p.R196Q|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.R196Q	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	196					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	p.R196Q(2)		breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TATTTTCCACGAGGATGGAAT	0.458000													46	344					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49724892	49724892	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:49724892G>A	ENST00000449682.2	-	4	736	c.375C>T	c.(373-375)atC>atT	p.I125I	MST1_ENST00000545762.1_Intron|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Silent_p.I50I	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	111	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.I111I(1)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CATTGTTCATGATGCAGGTCC	0.597000													14	112					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27187160	27187160	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:27187160G>T	ENST00000222728.3	-	1	233	c.209C>A	c.(208-210)gCg>gAg	p.A70E	HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA6_ENST00000521478.1_5'UTR	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	70						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A70E(1)		central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CTCGTAGGACGCCCGGTTGCA	0.637000													31	82					1.76533e-06	1.93705e-06	1	1	0
TTC40	54777	broad.mit.edu	37	10	134755107	134755107	+	Silent	SNP	C	C	T	rs143120032		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr10:134755107C>T	ENST00000368586.5	-	3	394	c.294G>A	c.(292-294)tcG>tcA	p.S98S	TTC40_ENST00000368582.2_Silent_p.S98S|TTC40_ENST00000368585.3_Silent_p.S98S	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0								p.S98S(2)|p.S40S(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGTTTTCTGCCGACTTCGGGG	0.567000													13	62					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													4	40					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349063	150349063	+	Silent	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:150349063C>A	ENST00000218316.3	+	2	1077	c.1008C>A	c.(1006-1008)gcC>gcA	p.A336A		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	336	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.A336E(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GTACCCTGGCCCGCGCCCGTG	0.567000													35	240					4.34311e-12	5.16775e-12	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134371229	134371229	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr9:134371229C>G	ENST00000357304.4	+	31	6713	c.6658C>G	c.(6658-6660)Cgg>Ggg	p.R2220G	PRRC2B_ENST00000405995.1_Missense_Mutation_p.R1526G|PRRC2B_ENST00000465931.1_3'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.R1526G|PRRC2B_ENST00000372249.1_3'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2220							protein binding	p.R2220G(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GATCAAGCCTCGGGCTGTCAA	0.637000													5	105					0	0	1	0	0
ATP5A1	498	broad.mit.edu	37	18	43671709	43671709	+	Missense_Mutation	SNP	C	C	T	rs146467617	byFrequency	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr18:43671709C>T	ENST00000593152.2	-	3	637	c.98G>A	c.(97-99)cGc>cAc	p.R33H	ATP5A1_ENST00000282050.2_Missense_Mutation_p.R83H|ATP5A1_ENST00000590665.1_Missense_Mutation_p.R83H|ATP5A1_ENST00000398752.6_Missense_Mutation_p.R83H	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	83					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.R83H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CCCATGTACGCGGGCAATACC	0.393000													32	174					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11485907	11485907	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:11485907G>A	ENST00000423059.3	-	13	3096	c.2845C>T	c.(2845-2847)Ccc>Tcc	p.P949S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	949	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCAATCAGGGGATACAAATGG	0.358000										HNSCC(18;0.044)			22	243					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3649126	3649126	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:3649126A>C	ENST00000263087.4	-	18	2349	c.2251T>G	c.(2251-2253)Tgc>Ggc	p.C751G		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	751					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.C751G(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCCCTCAGGCAGCCCAGACAG	0.597000													28	132					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7915177	7915177	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr20:7915177G>T	ENST00000378789.3	-	2	294	c.243C>A	c.(241-243)gcC>gcA	p.A81A		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	81	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	p.A81A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGCGCTGCATGGCCGTAGCCC	0.532000													17	161					9.16793e-09	1.04248e-08	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95508682	95508682	+	Missense_Mutation	SNP	G	G	A	rs139309146		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr8:95508682G>A	ENST00000437199.1	-	17	4136	c.4124C>T	c.(4123-4125)tCa>tTa	p.S1375L	KIAA1429_ENST00000297591.5_Silent_p.L1419L			Q69YN4	VIR_HUMAN	KIAA1429	0					mRNA processing|RNA splicing	nucleus		p.L1419L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTACTTCCATGAGACCATTAT	0.363000													11	118					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47456482	47456482	+	Splice_Site	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:47456482C>A	ENST00000265565.5	-	20	3553	c.3139_splice	c.e20-1	p.G1047_splice	SCAP_ENST00000545718.1_Splice_Site_p.G654_splice|SCAP_ENST00000441517.2_Splice_Site_p.G791_splice	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1047	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	p.G1047G(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCCCTGGGGTCCCTGAGGACA	0.612000													8	48					0.000157383	0.000165605	1	1	0
FAM129A	116496	broad.mit.edu	37	1	184863220	184863220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:184863220C>T	ENST00000367511.3	-	3	500	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	103					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.E103K(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTTTATTCTCATAGCTCTCC	0.378000													5	155					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587708	43587708	+	RNA	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:43587708A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							AACAACCACCATCTCCAAATC	0.348000													4	141					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960105	117960105	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:117960105A>G	ENST00000310164.2	+	4	1405	c.898A>G	c.(898-900)Aga>Gga	p.R300G		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.R300G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGACAGGGCCAGACCTCAGGA	0.562000													21	156					0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69465973	69465973	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:69465973G>T	ENST00000227507.2	+	5	1038	c.811G>T	c.(811-813)Gcc>Tcc	p.A271S		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	271					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CCCCAAGGCCGCCgaggagga	0.682000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			4	54					1.23904e-05	1.33362e-05	1	1	0
HSPA4L	22824	broad.mit.edu	37	4	128722972	128722972	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr4:128722972C>A	ENST00000296464.3	+	6	973	c.562C>A	c.(562-564)Ctt>Att	p.L188I	HSPA4L_ENST00000508776.1_Missense_Mutation_p.L188I|HSPA4L_ENST00000505726.1_Missense_Mutation_p.L162I|HSPA4L_ENST00000439123.2_Missense_Mutation_p.L219I	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	188					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TAAACAGGATCTTCCCCCATT	0.333000													4	85					1	1	1	1	0
GPR50	9248	broad.mit.edu	37	X	150349062	150349062	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:150349062C>A	ENST00000218316.3	+	2	1076	c.1007C>A	c.(1006-1008)gCc>gAc	p.A336D		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	336	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.A336E(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CGTACCCTGGCCCGCGCCCGT	0.567000													35	244					2.47316e-13	2.99326e-13	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30935025	30935025	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:30935025G>T	ENST00000355537.3	+	2	703	c.556G>T	c.(556-558)Ggc>Tgc	p.G186C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G186C(2)		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)					GGGCAACCTGGGCAAGGGGCG	0.667000													7	37					0.00198382	0.00203432	1	1	0
NIP7	51388	broad.mit.edu	37	16	69373735	69373735	+	Translation_Start_Site	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:69373735G>A	ENST00000254940.5	+	1	403	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000569637.2_Start_Codon_SNP_p.M1I|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000254941.6_Start_Codon_SNP_p.M1I	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	1					ribosome assembly	nucleolus	protein binding|RNA binding	p.M1I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGGGAAAAATGCGGCCTTTGA	0.592000											OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	417					0	0	1	0	0
PUS3	83480	broad.mit.edu	37	11	125765210	125765210	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:125765210T>C	ENST00000227474.3	-	3	950	c.853A>G	c.(853-855)Atc>Gtc	p.I285V	HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.I285V	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	285						nucleus	RNA binding	p.I285V(1)		NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		AGAAAGAGGATAGCCATCATA	0.443000													17	114					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468793	10468793	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr8:10468793C>T	ENST00000382483.3	-	4	3038	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	939					intracellular signal transduction					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)		CCACTGGCCTCCTCCTGCCCC	0.647000													11	77					0	0	1	0	0
CBX7	23492	broad.mit.edu	37	22	39530045	39530045	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr22:39530045C>T	ENST00000216133.5	-	6	812	c.607G>A	c.(607-609)Gac>Aac	p.D203N	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Missense_Mutation_p.D110N	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	203					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex		p.D203N(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					TCGGCCAGGTCGGCATCTGCT	0.647000													8	105					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96624892	96624892	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr13:96624892C>T	ENST00000376747.3	-	11	1196	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	376					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.D376N(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						AGACGAGCATCGCCTGGCTGA	0.343000													12	88					0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125561082	125561082	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr12:125561082A>G	ENST00000316519.6	+	3	489	c.283A>G	c.(283-285)Aaa>Gaa	p.K95E	AACS_ENST00000261686.6_Missense_Mutation_p.K95E	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	95					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	p.K95E(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CGAGTGGTTCAAAGGCAGTCG	0.493000													14	142					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961296	1961296	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr20:1961296C>T	ENST00000217305.2	-	4	663	c.438G>A	c.(436-438)atG>atA	p.M146I	PDYN_ENST00000540134.1_Missense_Mutation_p.M146I|PDYN_ENST00000539905.1_Missense_Mutation_p.M146I|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	146					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.M146I(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCATCCCTCATCAGCTCAG	0.557000													11	150					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30495497	30495497	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:30495497G>A	ENST00000356798.6	+	9	1099	c.919G>A	c.(919-921)Gcg>Acg	p.A307T	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.A224T|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	307	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.A307T(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ATCAAAACCCGCGAGCGAGTT	0.473000													37	210					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865098	140865098	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr5:140865098G>C	ENST00000306593.1	+	1	358	c.358G>C	c.(358-360)Gag>Cag	p.E120Q	PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.E120Q(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCGAGCAGAGGTAGAGAT	0.577000													16	119					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373849	138373849	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:138373849G>A	ENST00000409968.1	+	18	3706	c.3528G>A	c.(3526-3528)ctG>ctA	p.L1176L	THSD7B_ENST00000272643.3_Silent_p.L1179L|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.L1148L					thrombospondin, type I, domain containing 7B									p.L1179L(1)|p.L1148L(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTGCCTCCTGAATGAAAATT	0.453000													31	208					0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81440802	81440802	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr15:81440802G>T	ENST00000286732.4	+	7	917	c.834G>T	c.(832-834)atG>atT	p.M278I		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	278								p.M278I(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						CGTCCTCCATGTTGGATCTGC	0.542000													24	142					9.57634e-11	1.11592e-10	1	1	0
NEFM	4741	broad.mit.edu	37	8	24772249	24772249	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr8:24772249G>A	ENST00000221166.5	+	1	1725	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	NEFM_ENST00000518131.1_Missense_Mutation_p.E315K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.E315K			P07197	NFM_HUMAN	neurofilament, medium polypeptide	315	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTCCGCCAAGGAAGAGATCGC	0.627000													4	60					0	0	1	0	0
MAD2L2	10459	broad.mit.edu	37	1	11740467	11740467	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:11740467G>T	ENST00000235310.3	-	5	1030	c.102C>A	c.(100-102)cgC>cgA	p.R34R	MAD2L2_ENST00000376667.3_Silent_p.R34R|MAD2L2_ENST00000376669.5_Silent_p.R34R|MAD2L2_ENST00000376672.1_Silent_p.R34R|MAD2L2_ENST00000376692.4_Silent_p.R34R			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	34	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding	p.R34R(2)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGACCTCGCGCACGTAGA	0.627000								DNA polymerases (catalytic subunits)					26	240					3.1745e-13	3.82568e-13	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143095798	143095798	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr6:143095798C>G	ENST00000367603.2	-	5	820	c.78G>C	c.(76-78)tgG>tgC	p.W26C	HIVEP2_ENST00000012134.2_Missense_Mutation_p.W26C|HIVEP2_ENST00000367604.1_Missense_Mutation_p.W26C	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W26C(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTTCCTGTCTCCATCTACCTG	0.448000													15	239					0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9396447	9396447	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr18:9396447G>A	ENST00000262120.5	+	4	584	c.393G>A	c.(391-393)gaG>gaA	p.E131E	TWSG1_ENST00000581641.1_Silent_p.E131E	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	131								p.E131E(1)|p.E131D(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CACATCATGAGAATCTGGTTT	0.448000													10	157					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52774307	52774307	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr12:52774307C>T	ENST00000257951.3	-	7	1330	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	422	Coil 2.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CATTTGGCATCACTGAGGGTC	0.632000											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	58					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121624836	121624836	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr6:121624836G>A	ENST00000275159.6	-	9	1006	c.1007C>T	c.(1006-1008)tCa>tTa	p.S336L	TBC1D32_ENST00000398212.2_Missense_Mutation_p.S336L					TBC1 domain family, member 32									p.S336L(1)									AATCTTTTGTGAGACAACATG	0.318000													5	52					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	100990155	100990155	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr8:100990155T>G	ENST00000360863.6	-	23	3703	c.3509A>C	c.(3508-3510)aAa>aCa	p.K1170T	RGS22_ENST00000523287.1_Missense_Mutation_p.K989T|RGS22_ENST00000523437.1_Missense_Mutation_p.K1158T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1170					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.K1170T(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTTCCAGATTTTTCGTCTTC	0.289000													7	97					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39835326	39835326	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr6:39835326C>G	ENST00000538976.1	+	6	651	c.469C>G	c.(469-471)Ctg>Gtg	p.L157V	DAAM2_ENST00000274867.4_Missense_Mutation_p.L157V|DAAM2_ENST00000398904.2_Missense_Mutation_p.L157V	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	157	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.L157V(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTTGACCTGTCTGCTAAATTT	0.478000													9	167					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45987864	45987864	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr21:45987864C>T	ENST00000323084.4	-	2	173	c.108G>A	c.(106-108)gcG>gcA	p.A36A	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	36					cell adhesion	extracellular region	structural molecule activity	p.A36A(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGACCACTTCCGCCAGGATGT	0.587000													7	62					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22272062	22272062	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:22272062C>G	ENST00000594947.1	+	4	1654	c.1510C>G	c.(1510-1512)Caa>Gaa	p.Q504E		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q504E(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACACCTTTCTCAACATAAGAT	0.383000													18	77					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56371470	56371470	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr6:56371470C>G	ENST00000370754.5	-	76	19263	c.19264G>C	c.(19264-19266)Gat>Cat	p.D6422H	DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.D5918H|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.D3830H|DST_ENST00000421834.2_Missense_Mutation_p.D4156H|DST_ENST00000361203.3_Missense_Mutation_p.D6133H|DST_ENST00000370769.4_Missense_Mutation_p.D6244H|DST_ENST00000370788.2_Missense_Mutation_p.D4047H			Q03001	DYST_HUMAN	dystonin	6242					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.D3830H(1)|p.D6244H(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTACCTCATCTATACTCTTC	0.358000													10	69					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42777198	42777198	+	Splice_Site	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:42777198C>T	ENST00000310232.6	-	10	1455		c.e10+1		CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13									p.?(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCCCTACTCACGTGCACATTG	0.587000													19	207					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71197584	71197584	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:71197584G>A	ENST00000299886.4	+	7	1698	c.1618G>A	c.(1618-1620)Gac>Aac	p.D540N		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	540					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	p.D540N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CCCCTCTGATGACTCATCACT	0.532000													25	182					0	0	1	0	0
KCTD4	386618	broad.mit.edu	37	13	45768147	45768147	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr13:45768147C>T	ENST00000405872.1	-	2	959	c.556G>A	c.(556-558)Gag>Aag	p.E186K	KCTD4_ENST00000379108.1_Missense_Mutation_p.E186K|GTF2F2_ENST00000340473.6_Intron	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	186						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E186K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		ATTGAAAACTCCTCTGGAAAT	0.363000													10	129					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131261579	131261579	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:131261579C>T	ENST00000512055.1	-	19	3487	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	CPNE4_ENST00000511604.1_Missense_Mutation_p.R454Q|CPNE4_ENST00000429747.1_Missense_Mutation_p.R454Q|CPNE4_ENST00000502818.1_Missense_Mutation_p.R472Q|CPNE4_ENST00000512332.1_Missense_Mutation_p.R472Q			Q96A23	CPNE4_HUMAN	copine IV	454	VWFA.							p.R454Q(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AATGGCCTCCCGGGTGTCGGC	0.557000													9	117					0	0	1	0	0
LOC644669	644669	broad.mit.edu	37	18	15323336	15323336	+	RNA	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr18:15323336G>A	ENST00000455308.2	-	0	512					NR_027417.1																						TTTCCTTATGGCCAATAAAAG	0.289000													4	20					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31924785	31924785	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr22:31924785C>T	ENST00000432498.1	+	3	595	c.202C>T	c.(202-204)Cta>Tta	p.L68L	SFI1_ENST00000414585.1_Intron|SFI1_ENST00000540643.1_Silent_p.L68L|SFI1_ENST00000400288.2_Silent_p.L68L|SFI1_ENST00000400289.1_Intron|SFI1_ENST00000443326.1_Intron|SFI1_ENST00000443011.1_Intron	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	68					G2/M transition of mitotic cell cycle	centriole|cytosol		p.L68L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TACCAGTCATCTAGTGCAGTA	0.493000													6	137					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197112595	197112595	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:197112595T>G	ENST00000367409.4	-	3	1043	c.787A>C	c.(787-789)Agt>Cgt	p.S263R	ASPM_ENST00000294732.7_Missense_Mutation_p.S263R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	263					mitosis	cytoplasm|nucleus	calmodulin binding	p.S263R(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACGTTGGCACTGTGTACATTT	0.378000													21	131					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533924	92533924	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:92533924C>G	ENST00000298047.6	+	9	7762	c.7745C>G	c.(7744-7746)aCt>aGt	p.T2582S	FAT3_ENST00000525166.1_Missense_Mutation_p.T2432S|FAT3_ENST00000409404.2_Missense_Mutation_p.T2582S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2582	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.T2582S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGAGAACAACTTTCTGCACT	0.483000										TCGA Ovarian(4;0.039)			4	39					0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63666936	63666936	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:63666936C>A	ENST00000409562.3	-	7	700	c.454G>T	c.(454-456)Gac>Tac	p.D152Y	WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000272321.7_Missense_Mutation_p.D152Y|WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000409835.1_5'UTR			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	152					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		p.D152Y(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AGGCTTCTGTCAATCACCACT	0.507000													14	173					0.000219431	0.000230036	1	1	0
OR5M8	219484	broad.mit.edu	37	11	56258676	56258676	+	Silent	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:56258676G>T	ENST00000327216.2	-	1	195	c.171C>A	c.(169-171)ccC>ccA	p.P57P		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P57P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AAAAGTACATGGGCATGTGGA	0.493000													25	143					7.92952e-12	9.39548e-12	1	1	0
BASP1	10409	broad.mit.edu	37	5	17275932	17275932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr5:17275932G>A	ENST00000322611.3	+	2	867	c.607G>A	c.(607-609)Gca>Aca	p.A203T		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	203					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CCAGGGCCCCGCAGCCTCTGC	0.617000													7	54					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54029107	54029107	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:54029107G>A	ENST00000338154.6	-	9	1459	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	PHF8_ENST00000357988.5_Missense_Mutation_p.H355Y|PHF8_ENST00000322659.8_Missense_Mutation_p.H319Y|PHF8_ENST00000338946.6_Missense_Mutation_p.H319Y	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	355	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.H319Y(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AGCACAGCATGGATCCACCCT	0.488000													10	74					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													6	62					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40672043	40672043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr12:40672043G>T	ENST00000298910.7	+	18	2279	c.2221G>T	c.(2221-2223)Gga>Tga	p.G741*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.G741*	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	741					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCAAAGGAGGGATCTTCTTT	0.393000													19	145					2.39556e-15	2.95e-15	1	1	0
PTRF	284119	broad.mit.edu	37	17	40556890	40556890	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:40556890C>T	ENST00000357037.5	-	2	1407	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	330					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	p.E330K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		ACCTGGCCCTCGCGGATCTTC	0.687000													6	141					0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120651681	120651681	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr12:120651681G>A	ENST00000397506.3	-	8	1962	c.909C>T	c.(907-909)ctC>ctT	p.L303L	PXN_ENST00000458477.2_Silent_p.L324L|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Silent_p.L489L|PXN_ENST00000424649.2_Silent_p.L457L|PXN_ENST00000267257.7_Silent_p.L505L|PXN_ENST00000228307.7_Silent_p.L491L			P49023	PAXI_HUMAN	paxillin	491					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	p.L457L(2)|p.L491L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAGCGTGTTGAGGGCTGAGA	0.617000													4	23					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122537344	122537344	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:122537344C>G	ENST00000264357.5	+	9	1559	c.1267C>G	c.(1267-1269)Cgg>Ggg	p.R423G	GRIA3_ENST00000371256.5_Missense_Mutation_p.R423G|GRIA3_ENST00000371251.1_Missense_Mutation_p.R423G|GRIA3_ENST00000542149.1_Missense_Mutation_p.R423G|GRIA3_ENST00000541091.1_Missense_Mutation_p.R407G	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	423					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.R423G(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CTCAGAGAATCGGACCATAGT	0.433000													31	236					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127670635	127670635	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:127670635G>A	ENST00000249363.3	-	2	316	c.59C>T	c.(58-60)cCg>cTg	p.P20L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	20						cell junction|integral to membrane|postsynaptic membrane		p.P20L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GTAGACGAACGGGAGCAGGAT	0.597000													26	247					0	0	1	0	0
TADA2B	93624	broad.mit.edu	37	4	7056332	7056332	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr4:7056332G>C	ENST00000310074.7	+	2	1003	c.814G>C	c.(814-816)Gat>Cat	p.D272H	TADA2B_ENST00000512388.1_Missense_Mutation_p.D197H|TADA2B_ENST00000515646.1_Missense_Mutation_p.D180H	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding	p.D272H(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						CAAGGAGTTTGATGACCTTTT	0.522000													13	60					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247694892	247694892	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:247694892C>T	ENST00000366487.3	-	2	1283	c.922G>A	c.(922-924)Gag>Aag	p.E308K	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E307K(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAGCAGTTCTCTAATACCATG	0.512000													12	79					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	215274887	215274887	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:215274887G>T	ENST00000331683.5	+	16	1839	c.1744G>T	c.(1744-1746)Ggc>Tgc	p.G582C	AC107218.3_ENST00000437883.1_RNA|SPAG16_ENST00000374309.3_Missense_Mutation_p.G488C|AC107218.3_ENST00000412896.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	582					cilium assembly	cilium axoneme|flagellar axoneme		p.G582C(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TCAGGCAAGTGGCAATGGTGT	0.433000													12	111					0.00136819	0.00140814	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91700233	91700233	+	Silent	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:91700233A>G	ENST00000359028.2	+	29	6783	c.6558A>G	c.(6556-6558)aaA>aaG	p.K2186K	AKAP9_ENST00000358100.2_Silent_p.K2186K|AKAP9_ENST00000356239.3_Silent_p.K2174K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2186	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.K2174K(1)|p.K2186K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGACCGAAAACACTTTGGAG	0.328000			T	BRAF	papillary thyroid								51	161					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39647380	39647380	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr18:39647380C>T	ENST00000262039.4	+	24	2638	c.2552C>T	c.(2551-2553)tCg>tTg	p.S851L	PIK3C3_ENST00000398870.3_Missense_Mutation_p.S788L|PIK3C3_ENST00000588156.1_Missense_Mutation_p.S75L|PIK3C3_ENST00000587328.1_Missense_Mutation_p.S29L|PIK3C3_ENST00000593098.1_Missense_Mutation_p.S336L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	851	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	p.S851L(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTAGACCTGTCGGATGAAGAG	0.423000										TSP Lung(28;0.18)			25	89					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49227724	49227724	+	Splice_Site	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:49227724C>T	ENST00000340334.7	-	3	442	c.73_splice	c.e3-1	p.G25_splice	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Splice_Site_p.G40_splice|FOLH1_ENST00000256999.2_Splice_Site_p.G40_splice|FOLH1_ENST00000533034.1_Splice_Site_p.G25_splice	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	40					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TATAAACCACCCTGAAAAATA	0.303000													9	83					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160836348	160836348	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:160836348C>G	ENST00000283243.7	-	14	2467	c.2261G>C	c.(2260-2262)aGa>aCa	p.R754T	PLA2R1_ENST00000392771.1_Missense_Mutation_p.R754T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	754	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.R754T(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TACAGGAGTTCTATCAGACCA	0.428000													9	37					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214819010	214819010	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:214819010C>G	ENST00000366955.3	+	13	6265	c.6097C>G	c.(6097-6099)Ctc>Gtc	p.L2033V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2129					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.L2033V(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAAACTCATCTCCAGGAAAA	0.438000													8	150					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57089342	57089342	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:57089342G>A	ENST00000532437.1	-	1	329	c.18C>T	c.(16-18)ctC>ctT	p.L6L	TNKS1BP1_ENST00000358252.3_Silent_p.L6L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	6	Arg/Glu/Lys/Pro-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.L6L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGCTTTCCCTGAGAGTAGACA	0.597000													18	62					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	100957385	100957385	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr6:100957385C>G	ENST00000369162.2	-	42	6830	c.6486G>C	c.(6484-6486)atG>atC	p.M2162I		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2162	SEC63 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.M2162I(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AGCAGTCACTCATGAAATATA	0.358000													6	107					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103023013	103023013	+	Splice_Site	SNP	A	A	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:103023013A>T	ENST00000375735.2	+	21	3239	c.3096_splice	c.e21+1	p.Q1032_splice	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site_p.Q1032_splice	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1032	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATTAAAGACCAGGTTAGAATC	0.294000													12	72					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31341648	31341648	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:31341648G>T	ENST00000544665.3	+	27	3154	c.3083G>T	c.(3082-3084)tGc>tTc	p.C1028F	ITGAM_ENST00000287497.8_Missense_Mutation_p.C1027F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1027					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.C1027F(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ATCGCTGTCTGCCAGAGAATC	0.547000													16	88					3.52763e-06	3.8409e-06	1	1	0
MAP3K4	4216	broad.mit.edu	37	6	161470184	161470184	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr6:161470184A>T	ENST00000392142.4	+	3	1028	c.880A>T	c.(880-882)Att>Ttt	p.I294F	MAP3K4_ENST00000366919.2_Missense_Mutation_p.I294F|MAP3K4_ENST00000366920.2_Missense_Mutation_p.I294F|MAP3K4_ENST00000348824.7_Missense_Mutation_p.I294F	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	294			I -> T (in dbSNP:rs35842248).		activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.I294F(2)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CATCCCAGATATTATTAATGA	0.428000													9	80					0	0	1	0	0
CD300LB	124599	broad.mit.edu	37	17	72527484	72527484	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:72527484C>A	ENST00000392621.1	-	1	121	c.117G>T	c.(115-117)tgG>tgT	p.W39C	CD300LB_ENST00000314401.3_Missense_Mutation_p.W39C	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	2	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.W39C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CAGGGGGCAGCCACATGGCTC	0.627000													13	126					9.31168e-06	1.00996e-05	1	1	0
NIFK	84365	broad.mit.edu	37	2	122488554	122488554	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:122488554C>T	ENST00000285814.4	-	4	551	c.479G>A	c.(478-480)cGg>cAg	p.R160Q		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		160					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.R160Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTCCTCCATCCGTAGCTTTTG	0.343000													24	164					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185167766	185167766	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:185167766G>T	ENST00000265026.3	+	6	1423	c.1089G>T	c.(1087-1089)tgG>tgT	p.W363C	MAP3K13_ENST00000424227.1_Missense_Mutation_p.W363C|MAP3K13_ENST00000535426.1_Missense_Mutation_p.W219C|MAP3K13_ENST00000446828.1_Missense_Mutation_p.W156C|MAP3K13_ENST00000443863.1_Missense_Mutation_p.W219C	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	363	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.W363C(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CCATTATCTGGGGTGTTGGAA	0.468000													20	152					3.51602e-12	4.20134e-12	1	1	0
PARP6	56965	broad.mit.edu	37	15	72545802	72545802	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr15:72545802G>A	ENST00000569795.1	-	16	1922	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.P412L|PARP6_ENST00000287196.9_Missense_Mutation_p.P412L			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	412	PARP catalytic.						NAD+ ADP-ribosyltransferase activity	p.P412>?(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ATGGGCCAGGGGATCCAACTT	0.488000													5	62					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210642136	210642136	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:210642136G>C	ENST00000439458.1	+	4	533	c.453G>C	c.(451-453)caG>caC	p.Q151H	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.Q151H	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	151						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TCATCCACCAGGTTGAAAACC	0.552000													16	123					0	0	1	0	0
CWC15	51503	broad.mit.edu	37	11	94705238	94705238	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:94705238G>C	ENST00000279839.6	-	2	234	c.112C>G	c.(112-114)Cat>Gat	p.H38D	CWC15_ENST00000545018.1_5'UTR	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein homolog (S. cerevisiae)	38					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCTTTGTATGAGAGGGTAGG	0.398000													26	168					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881674	69881674	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr10:69881674A>C	ENST00000358913.5	+	2	967	c.479A>C	c.(478-480)gAg>gCg	p.E160A	MYPN_ENST00000373675.3_Missense_Mutation_p.E160A|MYPN_ENST00000540630.1_Missense_Mutation_p.E160A|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	160	Interaction with CARP.					nucleus|sarcomere	actin binding	p.E160A(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCATTGAAGAGCTATCCTCC	0.423000													10	56					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498475	61498475	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:61498475A>G	ENST00000424789.2	+	25	5136	c.5132A>G	c.(5131-5133)tAc>tGc	p.Y1711C	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.Y1721C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1711							binding	p.Y1721C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGCGTGAGATACAGCCAGACA	0.557000													42	379					0	0	1	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73048996	73048996	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr5:73048996G>A	ENST00000545377.1	+	4	620	c.444G>A	c.(442-444)gaG>gaA	p.E148E	ARHGEF28_ENST00000287898.5_Silent_p.E148E|ARHGEF28_ENST00000513042.2_Silent_p.E148E|ARHGEF28_ENST00000296794.6_Silent_p.E148E|ARHGEF28_ENST00000426542.2_Silent_p.E148E|ARHGEF28_ENST00000437974.1_Silent_p.E148E	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28									p.E148E(2)									TGCCTCTAGAGTGGACTGTGT	0.512000													4	30					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682206	69682206	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr4:69682206G>T	ENST00000265403.7	+	1	496	c.469G>T	c.(469-471)Gag>Tag	p.E157*	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	157					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E157*(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACCCTGTGGTGAGCTGCTGGC	0.388000													19	179					1.33834e-09	1.54677e-09	1	1	0
MPHOSPH9	10198	broad.mit.edu	37	12	123706321	123706321	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr12:123706321G>C	ENST00000606320.1	-	5	676	c.470C>G	c.(469-471)tCt>tGt	p.S157C	MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S127C|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S5C|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S5C			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	5					M phase of mitotic cell cycle	centriole|Golgi membrane		p.S5C(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ACTGCTTAGAGAAAAAAAACC	0.373000													11	108					0	0	1	0	0
ADPRM	56985	broad.mit.edu	37	17	10614344	10614344	+	Silent	SNP	A	A	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:10614344A>T	ENST00000379774.4	+	4	1003	c.912A>T	c.(910-912)ccA>ccT	p.P304P		NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent									p.P304P(1)									AAACAGCTCCAGACAGCCAAG	0.433000													14	63					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91675527	91675527	+	Splice_Site	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:91675527C>T	ENST00000298274.8	+	4	3234	c.3232_splice	c.e4-1	p.T1078_splice	PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000373088.1_Intron			Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1115					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						tttctttatccttcatcccaa	0.333000													21	181					0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71604652	71604652	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:71604652C>A	ENST00000355962.4	-	8	975	c.842G>T	c.(841-843)cGc>cTc	p.R281L	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	281					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.R281L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	AACCAGCCAGCGCTTGGCCAG	0.512000													10	68					6.40141e-05	6.86387e-05	1	1	0
INHBA	3624	broad.mit.edu	37	7	41729294	41729294	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:41729294T>C	ENST00000242208.4	-	3	1481	c.1235A>G	c.(1234-1236)aAa>aGa	p.K412R	INHBA_ENST00000442711.1_Missense_Mutation_p.K412R|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	412					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.K412R(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AATGTCCTTTTTGATGATGTT	0.522000										TSP Lung(11;0.080)			34	80					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518128	8518128	+	Silent	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr9:8518128C>G	ENST00000381196.4	-	18	1806	c.1263G>C	c.(1261-1263)ccG>ccC	p.P421P	PTPRD_ENST00000360074.4_Silent_p.P408P|PTPRD_ENST00000397611.3_Silent_p.P418P|PTPRD_ENST00000358503.5_Silent_p.P408P|PTPRD_ENST00000537002.1_Silent_p.P418P|PTPRD_ENST00000486161.1_Silent_p.P421P|PTPRD_ENST00000356435.5_Silent_p.P421P|PTPRD_ENST00000355233.5_Silent_p.P421P|PTPRD_ENST00000540109.1_Silent_p.P421P|PTPRD_ENST00000397606.3_Silent_p.P411P|PTPRD_ENST00000397617.3_Silent_p.P411P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	421	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P421P(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGACATCCCTCGGGGCACTGG	0.493000										TSP Lung(15;0.13)			22	209					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36322010	36322010	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:36322010C>T	ENST00000378910.5	-	27	3425	c.3426G>A	c.(3424-3426)ctG>ctA	p.L1142L	NPHS1_ENST00000353632.6_Silent_p.L1102L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1142					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.L1142L(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGAAGTCCCTCAGGGAGCGGT	0.587000													14	162					0	0	1	0	0
TRAPPC13	80006	broad.mit.edu	37	5	64956651	64956651	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr5:64956651G>C	ENST00000399438.3	+	10	1169	c.824G>C	c.(823-825)gGa>gCa	p.G275A	TRAPPC13_ENST00000438419.2_Missense_Mutation_p.G275A|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.G276A|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.G269A|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.G269A	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2			trafficking protein particle complex 13									p.G275A(2)									ACAGTAATTGGAAAATTGGAT	0.398000													4	60					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33282891	33282891	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr18:33282891G>C	ENST00000269195.5	+	9	1433	c.1330G>C	c.(1330-1332)Gat>Cat	p.D444H	GALNT1_ENST00000537549.1_Missense_Mutation_p.D384H	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	444	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.D444H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCAGTGTCTAGATAACATGGC	0.343000													21	122					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039415	11039415	+	RNA	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr21:11039415C>T	ENST00000470054.1	-	0	788									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)		ATCTGTTTTTCCAATTCGGTA	0.289000													7	281					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392793	1392793	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:1392793G>T	ENST00000324385.5	+	13	1402	c.1244G>T	c.(1243-1245)cGg>cTg	p.R415L	BAIAP3_ENST00000426824.3_Missense_Mutation_p.R380L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R357L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R397L|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R344L|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R352L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R397L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	415					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.R415L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CATCTGCTGCGGTTGGAGCAC	0.672000													6	44					0.00116845	0.00120697	1	1	0
LAMB2	3913	broad.mit.edu	37	3	49161339	49161339	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:49161339G>A	ENST00000418109.1	-	25	3783	c.3619C>T	c.(3619-3621)Cgt>Tgt	p.R1207C	LAMB2_ENST00000305544.4_Missense_Mutation_p.R1207C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1207	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R1207C(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCTGTGTACGGGCTGCCAAG	0.612000													14	82					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116811408	116811408	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr9:116811408C>G	ENST00000288466.7	+	14	1646	c.1547C>G	c.(1546-1548)tCg>tGg	p.S516W	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.S609W	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TTCGTGATGTCGGAGATCAGG	0.592000													10	209					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957758	73957758	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr4:73957758G>A	ENST00000358602.4	-	29	5703	c.5587C>T	c.(5587-5589)Cac>Tac	p.H1863Y	ANKRD17_ENST00000330838.6_Missense_Mutation_p.H1612Y|ANKRD17_ENST00000509867.2_Missense_Mutation_p.H1750Y	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1863					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.H1863Y(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGGTTTTGTGAGTGGATGCA	0.433000													12	186					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33451278	33451278	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr20:33451278G>A	ENST00000336431.5	-	2	287	c.243C>T	c.(241-243)gaC>gaT	p.D81D		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	81					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCGGCGACCCGTCTTGGCTGC	0.697000													5	26					0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48342693	48342693	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:48342693G>A	ENST00000221996.7	+	4	575	c.369G>A	c.(367-369)acG>acA	p.T123T	CRX_ENST00000539067.1_Silent_p.T123T|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	123					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T123T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		AGGCGGGCACGTCCCCAAGAC	0.667000													19	139					0	0	1	0	0
TSEN34	79042	broad.mit.edu	37	19	54696204	54696204	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:54696204G>C	ENST00000396383.1	+	4	1036	c.725G>C	c.(724-726)gGt>gCt	p.G242A	TSEN34_ENST00000302937.4_Missense_Mutation_p.G242A|TSEN34_ENST00000396388.2_Missense_Mutation_p.G242A|TSEN34_ENST00000429671.2_Missense_Mutation_p.G242A			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	242					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	p.G242A(1)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGTTCGGAGGTGACTTCCTG	0.552000													8	112					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51288719	51288719	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr14:51288719C>A	ENST00000245441.5	-	3	246	c.56G>T	c.(55-57)aGt>aTt	p.S19I	NIN_ENST00000382041.3_Missense_Mutation_p.S19I|NIN_ENST00000382043.4_Missense_Mutation_p.S19I|NIN_ENST00000530997.2_Missense_Mutation_p.S19I|NIN_ENST00000389868.3_Missense_Mutation_p.S19I|NIN_ENST00000453196.1_Missense_Mutation_p.S19I|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000324330.9_Missense_Mutation_p.S19I	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	19	EF-hand 1.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	p.S19I(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CGTGTCAAAACTGTCAAACAG	0.582000			T	PDGFRB	MPD								62	407					1.20466e-24	1.53717e-24	1	1	0
MRPL16	54948	broad.mit.edu	37	11	59575233	59575233	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:59575233C>T	ENST00000300151.4	-	3	424	c.211G>A	c.(211-213)Gac>Aac	p.D71N		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	71							rRNA binding	p.D71N(1)		central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						CCCCGTATGTCACTTAAATTT	0.413000													51	260					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45725774	45725774	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr20:45725774A>T	ENST00000327619.5	+	9	1229	c.855A>T	c.(853-855)ttA>ttT	p.L285F	EYA2_ENST00000357410.3_Missense_Mutation_p.L285F|EYA2_ENST00000317304.6_Missense_Mutation_p.L285F	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	285					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	p.L285F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TTCACTCCTTACTCACGGGGA	0.423000													27	241					0	0	1	0	0
TRAPPC6B	122553	broad.mit.edu	37	14	39628703	39628703	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr14:39628703G>C	ENST00000330149.5	-	2	359	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	TRAPPC6B_ENST00000557764.1_Intron|TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.Q45E	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	45					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	p.Q45E(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		ATCAATCCTTGTCCCACTCGA	0.338000													21	143					0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188426068	188426068	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:188426068G>T	ENST00000312675.4	+	7	1373	c.1127G>T	c.(1126-1128)gGg>gTg	p.G376V	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.G376V|LPP_ENST00000543006.1_Missense_Mutation_p.G376V	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	376					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.G376V(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GGCCATTCAGGGCAACTGGGG	0.522000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""								11	78					7.03913e-09	8.03657e-09	1	1	0
AKAP9	10142	broad.mit.edu	37	7	91660865	91660865	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:91660865G>A	ENST00000359028.2	+	17	4546	c.4321G>A	c.(4321-4323)Gtt>Att	p.V1441I	AKAP9_ENST00000358100.2_Missense_Mutation_p.V1441I|AKAP9_ENST00000356239.3_Missense_Mutation_p.V1429I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1441					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.V1429I(1)|p.V1441I(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACAAATATCGTTAAGTTGCT	0.284000			T	BRAF	papillary thyroid								17	134					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47456639	47456639	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr3:47456639C>G	ENST00000265565.5	-	19	3500	c.3088G>C	c.(3088-3090)Gat>Cat	p.D1030H	SCAP_ENST00000545718.1_Missense_Mutation_p.D637H|SCAP_ENST00000441517.2_Missense_Mutation_p.D774H	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1030	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	p.D1030H(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAGAAGAAATCAAGGGAACCG	0.622000													7	65					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	83635621	83635621	+	Silent	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr10:83635621C>T	ENST00000404547.1	+	1	525	c.525C>T	c.(523-525)atC>atT	p.I175I	NRG3_ENST00000372141.2_Silent_p.I175I			P56975	NRG3_HUMAN	neuregulin 3	175	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GGGTGCCCATCCGGGCCAGCC	0.731000													5	83					0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4142838	4142838	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr11:4142838C>T	ENST00000300738.5	+	10	1085	c.881C>T	c.(880-882)cCt>cTt	p.P294L	RRM1_ENST00000423050.2_Missense_Mutation_p.P197L|RRM1_ENST00000537197.1_5'UTR|RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000534285.1_Missense_Mutation_p.P72L	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	294					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	p.P294L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	CACTAGCGTCCTGGGGCATTT	0.368000													10	61					0	0	1	0	0
TOMM20L	387990	broad.mit.edu	37	14	58862762	58862762	+	Silent	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr14:58862762C>G	ENST00000360945.2	+	1	129	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	29					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						GTATTTACCTCAACCGGAAGC	0.756000													9	25					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379201	204379201	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:204379201C>G	ENST00000367188.4	-	1	1718	c.1339G>C	c.(1339-1341)Gat>Cat	p.D447H	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	447					regulation of translation			p.D447H(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			TCATCCCAATCCTCACCTTCT	0.458000													14	205					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17653042	17653042	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:17653042C>T	ENST00000335393.4	+	11	1499	c.1361C>T	c.(1360-1362)gCa>gTa	p.A454V	FAM129C_ENST00000352727.3_Missense_Mutation_p.A454V|FAM129C_ENST00000600871.1_Missense_Mutation_p.A400V|FAM129C_ENST00000332386.5_Missense_Mutation_p.A454V|FAM129C_ENST00000599124.1_Missense_Mutation_p.A423V|FAM129C_ENST00000449408.2_Missense_Mutation_p.A180V|FAM129C_ENST00000601861.1_Missense_Mutation_p.A423V|FAM129C_ENST00000300971.2_Missense_Mutation_p.A454V|FAM129C_ENST00000599164.1_Missense_Mutation_p.A423V|FAM129C_ENST00000595684.1_Missense_Mutation_p.A454V	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	454								p.A454V(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CAGCTGGCAGCACCGTTTGGC	0.627000													23	240					0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45981368	45981368	+	Silent	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr15:45981368C>G	ENST00000260324.7	+	9	1634	c.1248C>G	c.(1246-1248)ctC>ctG	p.L416L	SQRDL_ENST00000568606.1_Silent_p.L416L	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	416							oxidoreductase activity	p.L416L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CCATGTATCTCATGAAAGCTG	0.473000													13	115					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055780	6055780	+	Silent	SNP	G	G	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr4:6055780G>C	ENST00000409021.3	-	13	2252	c.1803C>G	c.(1801-1803)ctC>ctG	p.L601L	JAKMIP1_ENST00000282924.5_Silent_p.L601L|JAKMIP1_ENST00000410077.2_Silent_p.L436L|JAKMIP1_ENST00000409371.3_Silent_p.L416L|JAKMIP1_ENST00000409831.1_Silent_p.L601L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	601	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.L601L(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCTTACTTCGAGTTCTAGCA	0.403000													25	203					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22030794	22030794	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:22030794C>G	ENST00000308271.9	-	20	3124	c.2476G>C	c.(2476-2478)Gat>Cat	p.D826H	USP48_ENST00000529637.1_Missense_Mutation_p.D838H|USP48_ENST00000400301.1_Missense_Mutation_p.D826H|USP48_ENST00000374732.3_Missense_Mutation_p.D364H	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	826					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.D826H(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GGGTTTACATCTCCCACTTCA	0.373000													7	86					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1222560	1222560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:1222560C>A	ENST00000338555.2	+	6	1843	c.699C>A	c.(697-699)taC>taA	p.Y233*	SCNN1D_ENST00000325425.8_Nonsense_Mutation_p.Y299*|SCNN1D_ENST00000400928.3_Nonsense_Mutation_p.Y233*|SCNN1D_ENST00000379116.5_Nonsense_Mutation_p.Y397*					sodium channel, non-voltage-gated 1, delta subunit									p.Y233*(1)|p.Y397*(1)		lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AGGACTGGTACCACTTCCACT	0.642000													8	58					0.000442599	0.000460565	1	1	0
PLBD1	79887	broad.mit.edu	37	12	14706176	14706176	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr12:14706176C>G	ENST00000240617.5	-	2	938	c.286G>C	c.(286-288)Gag>Cag	p.E96Q		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	96					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						ATGATGATCTCATTGCTCAGG	0.527000													13	36					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149839952	149839952	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:149839952G>A	ENST00000370396.2	+	15	1750	c.1696G>A	c.(1696-1698)Gaa>Aaa	p.E566K	MTM1_ENST00000413012.2_Missense_Mutation_p.E529K|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.E451K|MTM1_ENST00000542741.1_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	566					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	p.E566K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTACGCGACGAATACATAAA	0.522000													23	93					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	52					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224847476	224847476	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:224847476C>G	ENST00000409840.3	-	7	1567	c.907G>C	c.(907-909)Gat>Cat	p.D303H	SERPINE2_ENST00000447280.2_Missense_Mutation_p.D315H|SERPINE2_ENST00000258405.4_Missense_Mutation_p.D303H|SERPINE2_ENST00000409304.1_Missense_Mutation_p.D303H			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	303					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	p.D303H(1)|p.D315H(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCCTTCAAATCTGTTTGTGCT	0.353000													7	61					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112579651	112579651	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:112579651C>T	ENST00000297145.4	-	1	320	c.155G>A	c.(154-156)cGa>cAa	p.R52Q		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	52										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTTACCTTCTCGGTACTTCTT	0.617000													7	94					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18574179	18574179	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr9:18574179T>A	ENST00000380548.4	+	4	728	c.389T>A	c.(388-390)cTg>cAg	p.L130Q	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L130Q|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.L130Q|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.L130Q|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.L130Q|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.L130Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	130						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.L130Q(2)		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)		GGAACAACCCTGGTTGTTGAA	0.443000													9	212					0	0	1	0	0
ARL15	54622	broad.mit.edu	37	5	53467697	53467697	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr5:53467697C>G	ENST00000504924.1	-	2	203	c.110G>C	c.(109-111)tGc>tCc	p.C37S	ARL15_ENST00000502271.1_Intron|ARL15_ENST00000507646.2_Missense_Mutation_p.C37S|ARL15_ENST00000510591.2_5'UTR	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	37							GTP binding	p.C37S(1)|p.C25S(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				GAGGCCTATGCAAACCAGGTC	0.498000													9	52					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125080028	125080028	+	Silent	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr8:125080028G>A	ENST00000522917.1	+	28	3905	c.3699G>A	c.(3697-3699)aaG>aaA	p.K1233K	FER1L6_ENST00000399018.1_Silent_p.K1233K|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1233						integral to membrane				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)			GAAATCCCAAGGGAAAAAAAG	0.393000													5	38					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153874673	153874673	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr4:153874673G>A	ENST00000511601.1	+	3	709	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R174Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	174	FH2.				actin cytoskeleton organization		actin binding	p.R174L(1)|p.R174Q(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GATGCAAAACGGAGCATGAAC	0.313000													12	110					0	0	1	0	0
CTSL3P	392360	broad.mit.edu	37	9	90388437	90388437	+	RNA	SNP	G	G	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr9:90388437G>A	ENST00000354530.2	+	0	303					NR_027917.1													p.W101*(1)									TGCAGACCTGGTGGACTGCTC	0.468000													9	77					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8931289	8931289	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:8931289delC	ENST00000256707.3	-	13	1523	c.1342delG	c.(1342-1344)cafs	p.A448fs	KIDINS220_ENST00000473731.1_Frame_Shift_Del_p.A448fs|KIDINS220_ENST00000319688.5_Frame_Shift_Del_p.A449fs|KIDINS220_ENST00000427284.1_Frame_Shift_Del_p.A448fs|KIDINS220_ENST00000418530.1_Frame_Shift_Del_p.A406fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	448	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGAATATCTGCCAGGGCACTG	0.418													13	102	---	---	---	---					
DOK1	1796	broad.mit.edu	37	2	74783669	74783669	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr2:74783669delC	ENST00000233668.5	+	5	1543	c.874delC	c.(874-876)ccfs	p.P293fs	DOK1_ENST00000409429.1_Frame_Shift_Del_p.P154fs|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	293	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCTCGACAGTCCCCCAGCCCT	0.617													18	137	---	---	---	---					
DHX15	1665	broad.mit.edu	37	4	24538793	24538793	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr4:24538793delG	ENST00000336812.4	-	11	1946	c.1790delC	c.(1789-1791)cafs	p.P597fs	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	597					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AAAACACTGTGGGACTAAACA	0.507													7	49	---	---	---	---					
FLJ33360	401172	broad.mit.edu	37	5	6337066	6337067	+	RNA	DEL	AC	AC	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr5:6337066_6337067delAC	ENST00000507444.1	-	0	143					NR_028351.1																						acacatacatacacacacacac	0.475													4	4	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327916	16327918	+	In_Frame_Del	DEL	TGC	TGC	-	rs28555263		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr6:16327916_16327918delTGC	ENST00000244769.4	-	8	1560_1562	c.624_626delGCA	c.(622-627)cat>ca	p.QH210del	ATXN1_ENST00000436367.1_In_Frame_Del_p.QH210del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	210	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgatgctgatgctgctgctgct	0.665													7	22	---	---	---	---					
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr6:26384091_26384093delCCT	ENST00000356709.4	+	2	153_155	c.42_44delCCT	c.(40-45)tcc>tc	p.SL14del	BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	14					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCAGCCTCcctcctcctcctc	0.581													7	163	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs72320253		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr6:170871013_170871014insCAG	ENST00000392092.2	+	3	468_469	c.189_190insCAG	c.(187-192)caagca>caCAGagca	p.63_63Q>HR	TBP_ENST00000230354.6_In_Frame_Ins_p.63_63Q>HR|TBP_ENST00000540980.1_In_Frame_Ins_p.43_43Q>HR	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	63	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q63_Q64insQ(1)|p.Q63Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.550													54	50	---	---	---	---					
VWC2	375567	broad.mit.edu	37	7	49842429	49842430	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:49842429_49842430insA	ENST00000340652.3	+	3	1375_1376	c.819_820insA	c.(817-822)tgaaaafs	p.*K273fs		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	273	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GTCCCATCTGCAAAAATGGTAT	0.569													25	70	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100684131	100684133	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:100684131_100684133delCTC	ENST00000306151.4	+	3	9498_9500	c.9434_9436delCTC	c.(9433-9438)tct>t	p.SP3145del		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3145	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCCATTCATCTCCTACAACTTC	0.493													7	1029	---	---	---	---					
TMEM229A	730130	broad.mit.edu	37	7	123672457	123672462	+	In_Frame_Del	DEL	GCTGCT	GCTGCT	-	rs72310362		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr7:123672457_123672462delGCTGCT	ENST00000455783.1	-	1	1061_1066	c.596_601delAGCAGC	c.(595-603)cgg>c	p.QQR199del	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	199						host cell nucleus|integral to membrane	sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(3)	6						GCGCCCCTCCgctgctgctgctgctg	0.757													3	3	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gcc>gc	p.AA339del	ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													10	225	---	---	---	---					
FER1L6	654463	broad.mit.edu	37	8	125074159	125074159	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr8:125074159delG	ENST00000522917.1	+	25	3420	c.3214delG	c.(3214-3216)ggfs	p.G1072fs	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Del_p.G1072fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1072	C2 4.					integral to membrane				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)			GAGAGCTTTTGGGAGGAGTAC	0.547													17	193	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													9	12	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													11	7	---	---	---	---					
DPY19L2	283417	broad.mit.edu	37	12	64055263	64055263	+	Splice_Site	DEL	T	T	-	rs565018		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr12:64055263delT	ENST00000324472.4	-	4	634		c.e4-2		RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)						multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATAAAGTCCCTTTTTTTAAAA	0.259													8	112	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547135	132547136	+	In_Frame_Ins	INS	-	-	CAG	rs144787206	byFrequency	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr12:132547135_132547136insCAG	ENST00000333577.4	+	48	8440_8441	c.8331_8332insCAG	c.(8329-8334)caaaca>caCAGaaca	p.2777_2777Q>HR	EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2777	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacagcagca	0.589													7	127	---	---	---	---					
POLG	5428	broad.mit.edu	37	15	89876827	89876828	+	In_Frame_Ins	INS	-	-	TGC	rs41550117		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr15:89876827_89876828insTGC	ENST00000268124.5	-	2	491_492	c.158_159insGCA	c.(157-159)cca>cGCAca	p.53_53P>RT	POLG_ENST00000442287.2_In_Frame_Ins_p.53_53P>RT	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	53	Poly-Gln.				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			gaggctgctgttgctgctgctg	0.693								DNA polymerases (catalytic subunits)					7	31	---	---	---	---					
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)aac>a	p.SSN69del		NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral to membrane				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714													14	6	---	---	---	---					
SNX29P2	440352	broad.mit.edu	37	16	29496841	29496841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr16:29496841delT	ENST00000354563.5	-	3	844	c.434delA	c.(433-435)atfs	p.N145fs	SNX29P2_ENST00000398878.3_lincRNA																endometrium(1)|kidney(1)	2						TGTCTTGAGATTATCATCCGC	0.572													3	6	---	---	---	---					
ERBB2	2064	broad.mit.edu	37	17	37880981	37880982	+	In_Frame_Ins	INS	-	-	GCATACGTGATG			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:37880981_37880982insGCATACGTGATG	ENST00000406381.2	+	22	2730_2731	c.2220_2221insGCATACGTGATG	c.(2218-2223)gacata>gaGCATACGTGATGcata	p.740_740D>EHT*C	ERBB2_ENST00000584601.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000584450.1_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000269571.5_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000540147.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000445658.2_In_Frame_Ins_p.494_494D>EHT*C|ERBB2_ENST00000541774.1_In_Frame_Ins_p.755_755D>EHT*C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	770	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GTCCCCAGGAAGCATACGTGAT	0.594		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			11	140	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354	byFrequency	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr17:56056605_56056607delTGC	ENST00000584396.1	-	5	1105_1107	c.1017_1019delGCA	c.(1015-1020)caa>ca	p.QQ343del	VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	352	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463													11	324	---	---	---	---					
CDH19	28513	broad.mit.edu	37	18	64221659	64221660	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr18:64221659_64221660insA	ENST00000262150.2	-	4	884_885	c.592_593insT	c.(592-594)tgtfs	p.C198fs	CDH19_ENST00000540086.1_Frame_Shift_Ins_p.C198fs	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	198	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGGTTCAACAGAAAAATATGGC	0.381													19	116	---	---	---	---					
RPRD1B	58490	broad.mit.edu	37	20	36676873	36676874	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chr20:36676873_36676874insC	ENST00000373433.4	+	3	807_808	c.405_406insC	c.(403-408)ccccccfs	p.PP135fs		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	135										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CCAAGAGCCCTCCCCCCAAAGG	0.470													23	146	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													9	21	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	bffb3f71-7fdc-4be0-ab25-90716d87bcba	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(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)					CGTTGAACCCgctgctgctgctg	0.433													7	286	---	---	---	---					
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)afs	p.E116fs	DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505													8	70	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	T			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													8	91	---	---	---	---					
ITPKB	3707	broad.mit.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs11278152		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr1:226924876_226924884delCTGCCGCTG	ENST00000429204.1	-	2	603_611	c.276_284delCAGCGGCAG	c.(274-285)agt>ag	p.SSGS92del	ITPKB_ENST00000272117.3_In_Frame_Del_p.SSGS92del|ITPKB_ENST00000366784.1_In_Frame_Del_p.SSGS92del	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746													7	26	---	---	---	---					
KIDINS220	57498	broad.mit.edu	37	2	8931289	8931289	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:8931289delC	ENST00000256707.3	-	13	1523	c.1342delG	c.(1342-1344)cafs	p.A448fs	KIDINS220_ENST00000427284.1_Frame_Shift_Del_p.A448fs|KIDINS220_ENST00000418530.1_Frame_Shift_Del_p.A406fs|KIDINS220_ENST00000319688.5_Frame_Shift_Del_p.A449fs|KIDINS220_ENST00000473731.1_Frame_Shift_Del_p.A448fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	448	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGAATATCTGCCAGGGCACTG	0.418													13	102	---	---	---	---					
DOK1	1796	broad.mit.edu	37	2	74783669	74783669	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr2:74783669delC	ENST00000233668.5	+	5	1543	c.874delC	c.(874-876)ccfs	p.P293fs	DOK1_ENST00000409429.1_Frame_Shift_Del_p.P154fs|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	293	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCTCGACAGTCCCCCAGCCCT	0.617													18	137	---	---	---	---					
DHX15	1665	broad.mit.edu	37	4	24538793	24538793	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr4:24538793delG	ENST00000336812.4	-	11	1946	c.1790delC	c.(1789-1791)cafs	p.P597fs	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	597					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AAAACACTGTGGGACTAAACA	0.507													7	49	---	---	---	---					
FLJ33360	401172	broad.mit.edu	37	5	6337066	6337067	+	RNA	DEL	AC	AC	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr5:6337066_6337067delAC	ENST00000507444.1	-	0	143					NR_028351.1																						acacatacatacacacacacac	0.475													4	4	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327916	16327918	+	In_Frame_Del	DEL	TGC	TGC	-	rs28555263		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr6:16327916_16327918delTGC	ENST00000244769.4	-	8	1560_1562	c.624_626delGCA	c.(622-627)cat>ca	p.QH210del	ATXN1_ENST00000436367.1_In_Frame_Del_p.QH210del	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	210	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgatgctgatgctgctgctgct	0.665													7	22	---	---	---	---					
BTN2A2	10385	broad.mit.edu	37	6	26384091	26384093	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr6:26384091_26384093delCCT	ENST00000356709.4	+	2	153_155	c.42_44delCCT	c.(40-45)tcc>tc	p.SL14del	BTN2A2_ENST00000432533.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000469230.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000352867.2_In_Frame_Del_p.SL14del|BTN2A2_ENST00000482536.1_In_Frame_Del_p.SL14del|BTN2A2_ENST00000416795.2_In_Frame_Del_p.SL14del	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	14					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGCCAGCCTCcctcctcctcctc	0.581													7	163	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs72320253		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr6:170871013_170871014insCAG	ENST00000392092.2	+	3	468_469	c.189_190insCAG	c.(187-192)caagca>caCAGagca	p.63_63Q>HR	TBP_ENST00000540980.1_In_Frame_Ins_p.43_43Q>HR|TBP_ENST00000230354.6_In_Frame_Ins_p.63_63Q>HR	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	63	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q63_Q64insQ(1)|p.Q63Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.550													54	50	---	---	---	---					
VWC2	375567	broad.mit.edu	37	7	49842429	49842430	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:49842429_49842430insA	ENST00000340652.3	+	3	1375_1376	c.819_820insA	c.(817-822)tgaaaafs	p.*K273fs		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	273	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GTCCCATCTGCAAAAATGGTAT	0.569													25	70	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100684131	100684133	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr7:100684131_100684133delCTC	ENST00000306151.4	+	3	9498_9500	c.9434_9436delCTC	c.(9433-9438)tct>t	p.SP3145del		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3145	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCCATTCATCTCCTACAACTTC	0.493													7	1029	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gcc>gc	p.AA339del	ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													10	225	---	---	---	---					
FER1L6	654463	broad.mit.edu	37	8	125074159	125074159	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr8:125074159delG	ENST00000522917.1	+	25	3420	c.3214delG	c.(3214-3216)ggfs	p.G1072fs	FER1L6_ENST00000399018.1_Frame_Shift_Del_p.G1072fs|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1072	C2 4.					integral to membrane				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)			GAGAGCTTTTGGGAGGAGTAC	0.547													17	193	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aag>aa	p.NK168del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596													11	651	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547135	132547136	+	In_Frame_Ins	INS	-	-	CAG	rs144787206	byFrequency	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr12:132547135_132547136insCAG	ENST00000333577.4	+	48	8440_8441	c.8331_8332insCAG	c.(8329-8334)caaaca>caCAGaaca	p.2777_2777Q>HR	EP400_ENST00000332482.4_In_Frame_Ins_p.2704_2704Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2741_2741Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2660_2660Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2740_2740Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2777	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacagcagca	0.589													7	127	---	---	---	---					
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcc>gc	p.AH230del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	230	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621													9	110	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													4	7	---	---	---	---					
APOBR	55911	broad.mit.edu	37	16	28507398	28507424	+	In_Frame_Del	DEL	GGGACAGCCTCAGGAGGGGAGGAGGCC	GGGACAGCCTCAGGAGGGGAGGAGGCC	-	rs71657822		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC	ENST00000564831.1	+	2	1069_1095	c.1036_1062delGGGACAGCCTCAGGAGGGGAGGAGGCC	c.(1036-1062)del	p.GTASGGEEA355del	APOBR_ENST00000328423.5_Splice_Site_p.346_splice|APOBR_ENST00000431282.1_Splice_Site_p.346_splice	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	355	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGGGGAGGCTGGGACAGCCTCAGGAGGGGAGGAGGCCGGGACAGCCT	0.705													13	26	---	---	---	---					
ATP2A1	487	broad.mit.edu	37	16	28898967	28898968	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:28898967_28898968insG	ENST00000395503.4	+	8	1036_1037	c.852_853insG	c.(850-855)caggggfs	p.QG284fs	ATP2A1_ENST00000536376.1_Frame_Shift_Ins_p.QG159fs|ATP2A1_ENST00000357084.3_Frame_Shift_Ins_p.QG284fs	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	284					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ACCCCGTCCATGGGGGCTCCTG	0.554													24	192	---	---	---	---					
SNX29P2	440352	broad.mit.edu	37	16	29496841	29496841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr16:29496841delT	ENST00000354563.5	-	3	844	c.434delA	c.(433-435)atfs	p.N145fs	SNX29P2_ENST00000398878.3_lincRNA																endometrium(1)|kidney(1)	2						TGTCTTGAGATTATCATCCGC	0.572													3	6	---	---	---	---					
ERBB2	2064	broad.mit.edu	37	17	37880981	37880982	+	In_Frame_Ins	INS	-	-	GCATACGTGATG			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:37880981_37880982insGCATACGTGATG	ENST00000406381.2	+	22	2730_2731	c.2220_2221insGCATACGTGATG	c.(2218-2223)gacata>gaGCATACGTGATGcata	p.740_740D>EHT*C	ERBB2_ENST00000541774.1_In_Frame_Ins_p.755_755D>EHT*C|ERBB2_ENST00000540147.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000445658.2_In_Frame_Ins_p.494_494D>EHT*C|ERBB2_ENST00000584601.1_In_Frame_Ins_p.740_740D>EHT*C|ERBB2_ENST00000269571.5_In_Frame_Ins_p.770_770D>EHT*C|ERBB2_ENST00000584450.1_In_Frame_Ins_p.770_770D>EHT*C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	770	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GTCCCCAGGAAGCATACGTGAT	0.594		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			11	140	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354	byFrequency	TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr17:56056605_56056607delTGC	ENST00000584396.1	-	5	1105_1107	c.1017_1019delGCA	c.(1015-1020)caa>ca	p.QQ343del	VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	352	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463													11	324	---	---	---	---					
CDH19	28513	broad.mit.edu	37	18	64221659	64221660	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr18:64221659_64221660insA	ENST00000262150.2	-	4	884_885	c.592_593insT	c.(592-594)tgtfs	p.C198fs	CDH19_ENST00000540086.1_Frame_Shift_Ins_p.C198fs	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	198	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGGTTCAACAGAAAAATATGGC	0.381													19	116	---	---	---	---					
FAM98C	147965	broad.mit.edu	37	19	38899502	38899504	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr19:38899502_38899504delAAG	ENST00000252530.5	+	8	1049_1051	c.1030_1032delAAG	c.(1030-1032)del	p.K349del	FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	349										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTGGGGTCGCAAGAAGAAGAAGA	0.606													12	141	---	---	---	---					
RPRD1B	58490	broad.mit.edu	37	20	36676873	36676874	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr20:36676873_36676874insC	ENST00000373433.4	+	3	807_808	c.405_406insC	c.(403-408)ccccccfs	p.PP135fs		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	135										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CCAAGAGCCCTCCCCCCAAAGG	0.470													23	146	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs71769813		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)del	p.Q262del	MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591													9	112	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	4	---	---	---	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-44-3396-01A-01D-1553-08	TCGA-44-3396-11A-01D-1553-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7b1d940-fd01-4d85-89b5-48c965ce9e44	a4b424f4-5751-453e-9cb6-12243cb76126	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)del	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(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)					CGTTGAACCCgctgctgctgctg	0.433													7	286	---	---	---	---					
