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	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	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	MUTSIG_Significant_Genes	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
ABCC8	6833	broad.mit.edu	37	11	17415307	17415308	+	Splice_Site	DNP	CT	AA	AA			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17415307_17415308CT>AA	uc001mnc.2	-	38	4672	c.4546_splice	c.e38-1	p.E1516_splice		NM_000352	NP_000343			ATP-binding cassette, sub-family C, member 8						carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)													---	---	---	---	capture		Splice_Site	DNP	17415307	17415308	59	11	CT	AA	AA	24	24	ABCC8	AA	5	2
DNAH8	1769	broad.mit.edu	37	6	38854588	38854589	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38854588_38854589CA>AG	uc003ooe.1	+	55	8230_8231	c.7630_7631CA>AG	c.(7630-7632)CAG>AGG	p.Q2544R		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---	capture		Missense_Mutation	DNP	38854588	38854589	4790	6	CA	AG	AG	17	17	DNAH8	AG	2	2
PCDH11X	27328	broad.mit.edu	37	X	91456402	91456403	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:91456402_91456403CC>AA	uc004efk.1	+	3	3907_3908	c.3062_3063CC>AA	c.(3061-3063)ACC>AAA	p.T1021K	PCDH11X_uc004efl.1_Missense_Mutation_p.T1021K|PCDH11X_uc004efo.1_Intron|PCDH11X_uc010nmv.1_Missense_Mutation_p.T1021K|PCDH11X_uc004efm.1_Missense_Mutation_p.T1021K|PCDH11X_uc004efn.1_Missense_Mutation_p.T1021K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	1021	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2																		---	---	---	---	capture		Missense_Mutation	DNP	91456402	91456403	11928	23	CC	AA	AA	18	18	PCDH11X	AA	2	2
OR6N2	81442	broad.mit.edu	37	1	158747277	158747277	+	Frame_Shift_Del	DEL	C	-	-			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158747277delC	uc010pir.1	-	1	149	c.149delG	c.(148-150)CGAfs	p.R50fs		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	50	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)																	---	---	---	---	capture_indel		Frame_Shift_Del	DEL	158747277	158747277	11617	1	C	-	-	31	31	OR6N2	-	5	5
TAS2R7	50837	broad.mit.edu	37	12	10954482	10954482	+	Frame_Shift_Del	DEL	G	-	-			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10954482delG	uc001qyv.2	-	1	745	c.688delC	c.(688-690)CATfs	p.H230fs		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	230	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	10954482	10954482	16108	12	G	-	-	47	47	TAS2R7	-	5	5
TEX14	56155	broad.mit.edu	37	17	56677004	56677004	+	Frame_Shift_Del	DEL	C	-	-			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56677004delC	uc010dcz.1	-	14	1838	c.1720delG	c.(1720-1722)GTTfs	p.V574fs	TEX14_uc002iwr.1_Frame_Shift_Del_p.V568fs|TEX14_uc002iws.1_Frame_Shift_Del_p.V568fs|TEX14_uc010dda.1_Frame_Shift_Del_p.V348fs	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN	testis expressed sequence 14 isoform a	574						cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---	capture_indel		Frame_Shift_Del	DEL	56677004	56677004	16305	17	C	-	-	18	18	TEX14	-	5	5
MFNG	4242	broad.mit.edu	37	22	37875441	37875441	+	Frame_Shift_Del	DEL	C	-	-			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37875441delC	uc003ass.1	-	4	673	c.503delG	c.(502-504)GGAfs	p.G168fs	MFNG_uc011ani.1_Frame_Shift_Del_p.G46fs|MFNG_uc011anj.1_Frame_Shift_Del_p.G154fs|CARD10_uc003ast.1_RNA	NM_002405	NP_002396	O00587	MFNG_HUMAN	O-fucosylpeptide	168	Lumenal (Potential).				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			lung(1)	1	Melanoma(58;0.0574)																	---	---	---	---	capture_indel		Frame_Shift_Del	DEL	37875441	37875441	9915	22	C	-	-	30	30	MFNG	-	5	5
ITIH3	3699	broad.mit.edu	37	3	52831910	52831910	+	Frame_Shift_Del	DEL	G	-	-			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52831910delG	uc003dfv.2	+	6	663	c.627delG	c.(625-627)CTGfs	p.L209fs	ITIH3_uc011bek.1_Frame_Shift_Del_p.L209fs	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	inter-alpha (globulin) inhibitor H3	209					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	52831910	52831910	8209	3	G	-	-	47	47	ITIH3	-	5	5
HTRA3	94031	broad.mit.edu	37	4	8271798	8271799	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8271798_8271799delCC	uc003gla.2	+	1	307_308	c.103_104delCC	c.(103-105)CCCfs	p.P35fs	HTRA3_uc003gkz.2_Frame_Shift_Del_p.P35fs	NM_053044	NP_444272	P83110	HTRA3_HUMAN	HtrA serine peptidase 3 precursor	35	IGFBP N-terminal.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	8271798	8271799	7755	4	CC	-	-	30	30	HTRA3	-	5	5
VPS13A	23230	broad.mit.edu	37	9	79983004	79983004	+	Frame_Shift_Del	DEL	T	-	-			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79983004delT	uc004akr.2	+	62	8765	c.8505delT	c.(8503-8505)CATfs	p.H2835fs	VPS13A_uc004akp.3_Frame_Shift_Del_p.H2835fs|VPS13A_uc004akq.3_Frame_Shift_Del_p.H2835fs|VPS13A_uc004aks.2_Frame_Shift_Del_p.H2796fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	2835					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	79983004	79983004	17756	9	T	-	-	49	49	VPS13A	-	5	5
AGRN	375790	broad.mit.edu	37	1	979737	979737	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:979737C>T	uc001ack.1	+	12	2222	c.2172C>T	c.(2170-2172)ACC>ACT	p.T724T		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	724	Kazal-like 8.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)														---	---	---	---	capture		Silent	SNP	979737	979737	400	1	C	T	T	24	24	AGRN	T	2	2
DFFB	1677	broad.mit.edu	37	1	3800107	3800107	+	Silent	SNP	G	T	T	rs144155925		TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3800107G>T	uc001alc.2	+	7	1142	c.819G>T	c.(817-819)GTG>GTT	p.V273V	DFFB_uc001ale.2_RNA|DFFB_uc009vlp.2_RNA|DFFB_uc001alb.2_RNA|DFFB_uc010nzn.1_Silent_p.V297V|DFFB_uc009vlq.2_RNA|DFFB_uc009vlr.2_Silent_p.V224V|DFFB_uc001ald.2_Silent_p.V209V	NM_004402	NP_004393	O76075	DFFB_HUMAN	DNA fragmentation factor, 40 kD, beta	273					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)														---	---	---	---	capture		Silent	SNP	3800107	3800107	4632	1	G	T	T	47	47	DFFB	T	2	2
CHD5	26038	broad.mit.edu	37	1	6196647	6196647	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6196647C>A	uc001amb.1	-	17	2726	c.2626G>T	c.(2626-2628)GGG>TGG	p.G876W	CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	876	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)														---	---	---	---	capture		Missense_Mutation	SNP	6196647	6196647	3462	1	C	A	A	24	24	CHD5	A	2	2
PLEKHG5	57449	broad.mit.edu	37	1	6529397	6529397	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6529397G>T	uc001ano.1	-	19	2316	c.2215C>A	c.(2215-2217)CAG>AAG	p.Q739K	PLEKHG5_uc001ann.1_Missense_Mutation_p.Q720K|PLEKHG5_uc001anq.1_Missense_Mutation_p.Q760K|PLEKHG5_uc001anp.1_Missense_Mutation_p.Q760K|PLEKHG5_uc001anj.1_Missense_Mutation_p.Q244K|PLEKHG5_uc009vma.1_Missense_Mutation_p.Q523K|PLEKHG5_uc010nzr.1_Missense_Mutation_p.Q752K|PLEKHG5_uc001ank.1_Missense_Mutation_p.Q683K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.Q683K|PLEKHG5_uc001anl.1_Missense_Mutation_p.Q683K|PLEKHG5_uc001anm.1_Missense_Mutation_p.Q683K|PLEKHG5_uc001anr.1_5'Flank	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	739	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---	capture		Missense_Mutation	SNP	6529397	6529397	12499	1	G	T	T	47	47	PLEKHG5	T	2	2
TMEM201	199953	broad.mit.edu	37	1	9661495	9661495	+	Silent	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9661495G>C	uc001apz.2	+	5	951	c.939G>C	c.(937-939)CTG>CTC	p.L313L	TMEM201_uc001apy.2_Silent_p.L313L	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	transmembrane protein 201 isoform 1	313	Helical; (Potential).					integral to membrane|nuclear inner membrane					0	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---	capture		Silent	SNP	9661495	9661495	16661	1	G	C	C	46	46	TMEM201	C	3	3
KIF1B	23095	broad.mit.edu	37	1	10336422	10336422	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10336422G>T	uc001aqx.3	+	12	1204	c.1002G>T	c.(1000-1002)GCG>GCT	p.A334A	KIF1B_uc001aqv.3_Silent_p.A328A|KIF1B_uc001aqw.3_Silent_p.A328A|KIF1B_uc001aqy.2_Silent_p.A334A|KIF1B_uc001aqz.2_Silent_p.A334A|KIF1B_uc001ara.2_Silent_p.A334A|KIF1B_uc001arb.2_Silent_p.A334A	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	334	Kinesin-motor.|Interaction with KBP.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---	capture		Silent	SNP	10336422	10336422	8595	1	G	T	T	39	39	KIF1B	T	1	1
CASZ1	54897	broad.mit.edu	37	1	10720208	10720208	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10720208G>A	uc001aro.2	-	6	1211	c.891C>T	c.(889-891)CAC>CAT	p.H297H	CASZ1_uc001arp.1_Silent_p.H297H|CASZ1_uc009vmx.2_Silent_p.H321H|CASZ1_uc001arq.1_Silent_p.H156H	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)														---	---	---	---	capture		Silent	SNP	10720208	10720208	2804	1	G	A	A	48	48	CASZ1	A	2	2
MTOR	2475	broad.mit.edu	37	1	11297904	11297904	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11297904A>C	uc001asd.2	-	13	2325	c.2204T>G	c.(2203-2205)ATC>AGC	p.I735S		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	735					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---	capture		Missense_Mutation	SNP	11297904	11297904	10347	1	A	C	C	12	12	MTOR	C	4	4
PADI3	51702	broad.mit.edu	37	1	17593278	17593278	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17593278A>C	uc001bai.2	+	5	513	c.473A>C	c.(472-474)GAT>GCT	p.D158A		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	158					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)													---	---	---	---	capture		Missense_Mutation	SNP	17593278	17593278	11795	1	A	C	C	12	12	PADI3	C	4	4
USP48	84196	broad.mit.edu	37	1	22021658	22021658	+	Silent	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22021658T>C	uc001bfb.2	-	23	3022	c.2784A>G	c.(2782-2784)CAA>CAG	p.Q928Q	USP48_uc001bfa.2_Intron|USP48_uc010odq.1_Silent_p.Q940Q|USP48_uc009vqc.2_Silent_p.Q862Q|USP48_uc001bfc.2_Intron|USP48_uc001bfd.1_Silent_p.Q53Q	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	928					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		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)														---	---	---	---	capture		Silent	SNP	22021658	22021658	17643	1	T	C	C	64	64	USP48	C	4	4
GALE	2582	broad.mit.edu	37	1	24123007	24123007	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24123007C>A	uc009vqo.1	-	9	1075	c.865G>T	c.(865-867)GGG>TGG	p.G289W	GALE_uc001bhv.1_Missense_Mutation_p.G289W|GALE_uc001bhw.1_Intron|GALE_uc001bhx.1_Missense_Mutation_p.G289W|GALE_uc009vqp.1_Missense_Mutation_p.G289W|GALE_uc001bhy.1_Silent_p.L325L|GALE_uc001bhz.1_Missense_Mutation_p.G215W|GALE_uc001bia.2_Silent_p.L117L	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	289					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity				0		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)														---	---	---	---	capture		Missense_Mutation	SNP	24123007	24123007	6466	1	C	A	A	21	21	GALE	A	2	2
CNR2	1269	broad.mit.edu	37	1	24201498	24201498	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24201498C>A	uc001bif.2	-	2	737	c.610G>T	c.(610-612)GGA>TGA	p.G204*		NM_001841	NP_001832	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	204	Helical; Name=5; (Potential).				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			skin(2)|central_nervous_system(1)	3		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)													---	---	---	---	capture		Nonsense_Mutation	SNP	24201498	24201498	3770	1	C	A	A	23	23	CNR2	A	5	1
SMPDL3B	27293	broad.mit.edu	37	1	28281030	28281030	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28281030G>T	uc001bpg.2	+	5	874	c.683G>T	c.(682-684)GGG>GTG	p.G228V	SMPDL3B_uc001bpf.2_Missense_Mutation_p.G228V|SMPDL3B_uc010ofq.1_Missense_Mutation_p.G22V|SMPDL3B_uc010ofr.1_Missense_Mutation_p.G180V	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	acid sphingomyelinase-like phosphodiesterase 3B	228					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			ovary(3)	3		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)														---	---	---	---	capture		Missense_Mutation	SNP	28281030	28281030	15309	1	G	T	T	43	43	SMPDL3B	T	2	2
PUM1	9698	broad.mit.edu	37	1	31418279	31418279	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:31418279G>C	uc001bsi.1	-	18	3015	c.2902C>G	c.(2902-2904)CAG>GAG	p.Q968E	PUM1_uc001bsf.1_Missense_Mutation_p.Q636E|PUM1_uc001bsg.1_Missense_Mutation_p.Q702E|PUM1_uc001bsh.1_Missense_Mutation_p.Q970E|PUM1_uc001bsj.1_Missense_Mutation_p.Q944E|PUM1_uc010oga.1_Missense_Mutation_p.Q826E|PUM1_uc001bsk.1_Missense_Mutation_p.Q1006E|PUM1_uc010ogb.1_Missense_Mutation_p.Q909E|SNORD103A_uc009vts.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	968	PUM-HD.|Pumilio 4.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---	capture		Missense_Mutation	SNP	31418279	31418279	13283	1	G	C	C	45	45	PUM1	C	3	3
KHDRBS1	10657	broad.mit.edu	37	1	32502535	32502535	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32502535G>C	uc001bub.2	+	5	902	c.796G>C	c.(796-798)GAG>CAG	p.E266Q	KHDRBS1_uc001bua.1_Missense_Mutation_p.E227Q|KHDRBS1_uc001buc.1_RNA	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal	266					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(1)	1		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)																---	---	---	---	capture		Missense_Mutation	SNP	32502535	32502535	8452	1	G	C	C	41	41	KHDRBS1	C	3	3
HPCA	3208	broad.mit.edu	37	1	33354670	33354670	+	Silent	SNP	C	A	A	rs11554959		TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33354670C>A	uc001bwh.2	+	2	211	c.171C>A	c.(169-171)CCC>CCA	p.P57P		NM_002143	NP_002134	P84074	HPCA_HUMAN	hippocalcin	57	EF-hand 1.						actin binding|calcium ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)																---	---	---	---	capture		Silent	SNP	33354670	33354670	7621	1	C	A	A	24	24	HPCA	A	2	2
CSMD2	114784	broad.mit.edu	37	1	34080171	34080171	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34080171G>T	uc001bxn.1	-	40	5975	c.5946C>A	c.(5944-5946)CCC>CCA	p.P1982P	CSMD2_uc001bxm.1_Silent_p.P2022P|CSMD2_uc001bxo.1_Silent_p.P895P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1982	CUB 12.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---	capture		Silent	SNP	34080171	34080171	4086	1	G	T	T	39	39	CSMD2	T	1	1
OSCP1	127700	broad.mit.edu	37	1	36886200	36886200	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36886200T>A	uc001cap.2	-	9	948	c.866A>T	c.(865-867)AAC>ATC	p.N289I	OSCP1_uc001caq.2_Missense_Mutation_p.N279I	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	289					transport	basal plasma membrane				ovary(2)|central_nervous_system(1)|pancreas(1)	4																OREG0013368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	36886200	36886200	11697	1	T	A	A	60	60	OSCP1	A	4	4
MACF1	23499	broad.mit.edu	37	1	39898246	39898246	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39898246G>A	uc010oiu.1	+	31	12828	c.12697G>A	c.(12697-12699)GAA>AAA	p.E4233K	MACF1_uc010ois.1_Missense_Mutation_p.E3731K|MACF1_uc001cda.1_Missense_Mutation_p.E3618K|MACF1_uc001cdc.1_Missense_Mutation_p.E2688K	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5798	Spectrin 9.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---	capture		Missense_Mutation	SNP	39898246	39898246	9521	1	G	A	A	45	45	MACF1	A	2	2
TRIT1	54802	broad.mit.edu	37	1	40307454	40307454	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40307454G>T	uc010oiz.1	-	11	1380	c.1366C>A	c.(1366-1368)CCA>ACA	p.P456T	TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.P152T|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.P210T|TRIT1_uc001ceh.3_Missense_Mutation_p.P210T|TRIT1_uc009vvv.2_Missense_Mutation_p.P289T|TRIT1_uc001cei.3_Missense_Mutation_p.P210T|TRIT1_uc001ceq.2_Missense_Mutation_p.P152T|TRIT1_uc001cek.2_Missense_Mutation_p.P152T|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_RNA|TRIT1_uc001cem.2_Missense_Mutation_p.P374T|TRIT1_uc001cen.2_Missense_Mutation_p.P210T|TRIT1_uc001ceo.2_Missense_Mutation_p.P210T|TRIT1_uc001cep.2_Missense_Mutation_p.P210T	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1 precursor	456					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			ovary(1)	1	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)															---	---	---	---	capture		Missense_Mutation	SNP	40307454	40307454	17110	1	G	T	T	43	43	TRIT1	T	2	2
COL9A2	1298	broad.mit.edu	37	1	40777194	40777194	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:40777194A>T	uc001cfh.1	-	10	567	c.497T>A	c.(496-498)CTG>CAG	p.L166Q	COL9A2_uc001cfi.1_5'UTR	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	alpha 2 type IX collagen precursor	166	Nonhelical region 4 (NC4).				axon guidance|skeletal system development	collagen type IX				ovary(2)	2	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)															---	---	---	---	capture		Missense_Mutation	SNP	40777194	40777194	3846	1	A	T	T	7	7	COL9A2	T	4	4
YBX1	4904	broad.mit.edu	37	1	43162554	43162554	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43162554G>T	uc001chs.2	+	5	767	c.596G>T	c.(595-597)CGG>CTG	p.R199L		NM_004559	NP_004550	P67809	YBOX1_HUMAN	nuclease sensitive element binding protein 1	199					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			ovary(4)|upper_aerodigestive_tract(1)	5	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---	capture		Missense_Mutation	SNP	43162554	43162554	18052	1	G	T	T	39	39	YBX1	T	1	1
RNF220	55182	broad.mit.edu	37	1	45101781	45101781	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45101781G>T	uc001clv.1	+	8	1433	c.1073G>T	c.(1072-1074)TGG>TTG	p.W358L	RNF220_uc001clw.1_Missense_Mutation_p.W358L|RNF220_uc010okx.1_Missense_Mutation_p.W119L|RNF220_uc010oky.1_Missense_Mutation_p.W145L|RNF220_uc010okz.1_Missense_Mutation_p.W100L|RNF220_uc001clx.1_Missense_Mutation_p.W74L|RNF220_uc001cly.1_Missense_Mutation_p.W37L|RNF220_uc001clz.1_Missense_Mutation_p.W37L|RNF220_uc001cma.1_Missense_Mutation_p.W37L|TMEM53_uc001cmb.1_3'UTR	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	ring finger protein 220	358					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	45101781	45101781	13961	1	G	T	T	47	47	RNF220	T	2	2
EIF2B3	8891	broad.mit.edu	37	1	45340357	45340357	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45340357C>G	uc001cmt.1	-	10	1322	c.1195G>C	c.(1195-1197)GAG>CAG	p.E399Q	EIF2B3_uc001cmu.1_Missense_Mutation_p.E399Q|EIF2B3_uc001cmv.1_Missense_Mutation_p.E373Q|EIF2B3_uc001cmw.2_Missense_Mutation_p.E399Q	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	399					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	45340357	45340357	5191	1	C	G	G	30	30	EIF2B3	G	3	3
PPAP2B	8613	broad.mit.edu	37	1	57044613	57044613	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57044613G>T	uc001cyj.1	-	2	578	c.77C>A	c.(76-78)CCG>CAG	p.P26Q		NM_177414	NP_803133	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	26	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	57044613	57044613	12721	1	G	T	T	39	39	PPAP2B	T	1	1
C8B	732	broad.mit.edu	37	1	57415411	57415411	+	Silent	SNP	G	A	A	rs138606922	byFrequency;by1000genomes	TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57415411G>A	uc001cyp.2	-	6	748	c.681C>T	c.(679-681)TAC>TAT	p.Y227Y	C8B_uc010oon.1_Silent_p.Y165Y|C8B_uc010ooo.1_Silent_p.Y175Y	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	227	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---	capture		Silent	SNP	57415411	57415411	2526	1	G	A	A	40	40	C8B	A	1	1
KANK4	163782	broad.mit.edu	37	1	62739162	62739162	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62739162G>T	uc001dah.3	-	3	1991	c.1614C>A	c.(1612-1614)ACC>ACA	p.T538T	KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	ankyrin repeat domain 38	538										ovary(3)|skin(2)|lung(1)	6																		---	---	---	---	capture		Silent	SNP	62739162	62739162	8283	1	G	T	T	47	47	KANK4	T	2	2
SGIP1	84251	broad.mit.edu	37	1	67138998	67138998	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67138998C>T	uc001dcr.2	+	12	812	c.595C>T	c.(595-597)CCT>TCT	p.P199S	SGIP1_uc010opd.1_5'UTR|SGIP1_uc001dcs.2_5'UTR|SGIP1_uc001dct.2_5'UTR|uc010ope.1_Intron|SGIP1_uc009wat.2_5'UTR	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	199	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	67138998	67138998	14697	1	C	T	T	30	30	SGIP1	T	2	2
RPE65	6121	broad.mit.edu	37	1	68903988	68903988	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:68903988A>C	uc001dei.1	-	10	1064	c.1010T>G	c.(1009-1011)GTT>GGT	p.V337G		NM_000329	NP_000320	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein	337					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	68903988	68903988	14024	1	A	C	C	2	2	RPE65	C	4	4
LRRC7	57554	broad.mit.edu	37	1	70503946	70503946	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70503946C>A	uc001dep.2	+	19	2355	c.2325C>A	c.(2323-2325)GAC>GAA	p.D775E	LRRC7_uc009wbg.2_Missense_Mutation_p.D59E|LRRC7_uc001deq.2_Missense_Mutation_p.D16E	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	775						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---	capture		Missense_Mutation	SNP	70503946	70503946	9396	1	C	A	A	17	17	LRRC7	A	2	2
TNNI3K	51086	broad.mit.edu	37	1	74836026	74836026	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:74836026G>T	uc001dgf.1	+	17	1773	c.1722G>T	c.(1720-1722)ATG>ATT	p.M574I	TNNI3K_uc001dgc.1_Missense_Mutation_p.M675I|TNNI3K_uc001dgd.2_Missense_Mutation_p.M675I|TNNI3K_uc001dge.1_Missense_Mutation_p.M675I	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	574	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	74836026	74836026	16870	1	G	T	T	47	47	TNNI3K	T	2	2
LHX8	431707	broad.mit.edu	37	1	75622726	75622726	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75622726G>T	uc001dgo.2	+	9	1623	c.959G>T	c.(958-960)GGA>GTA	p.G320V	LHX8_uc001dgq.2_Missense_Mutation_p.G259V	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	320						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	75622726	75622726	9102	1	G	T	T	41	41	LHX8	T	2	2
LPAR3	23566	broad.mit.edu	37	1	85331112	85331112	+	Missense_Mutation	SNP	C	A	A	rs35745543	byFrequency;by1000genomes	TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85331112C>A	uc001dkl.2	-	1	731	c.692G>T	c.(691-693)CGG>CTG	p.R231L	LPAR3_uc009wcj.1_Missense_Mutation_p.R231L	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	231	Cytoplasmic (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				lung(3)|ovary(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	85331112	85331112	9279	1	C	A	A	23	23	LPAR3	A	1	1
ZNF326	284695	broad.mit.edu	37	1	90482967	90482967	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:90482967T>G	uc001dnq.2	+	8	1157	c.1018T>G	c.(1018-1020)TTA>GTA	p.L340V	ZNF326_uc009wda.1_Missense_Mutation_p.L251V|ZNF326_uc001dnr.2_Missense_Mutation_p.L134V	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326 isoform 1	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			ovary(1)	1		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)														---	---	---	---	capture		Missense_Mutation	SNP	90482967	90482967	18438	1	T	G	G	52	52	ZNF326	G	4	4
SLC44A3	126969	broad.mit.edu	37	1	95294132	95294132	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:95294132G>T	uc001dqv.3	+	5	606	c.499G>T	c.(499-501)GTT>TTT	p.V167F	SLC44A3_uc001dqx.3_Missense_Mutation_p.V167F|SLC44A3_uc010otq.1_Missense_Mutation_p.V99F|SLC44A3_uc010otr.1_Missense_Mutation_p.V131F|SLC44A3_uc001dqw.3_Missense_Mutation_p.V119F|SLC44A3_uc010ots.1_Missense_Mutation_p.V87F|SLC44A3_uc009wds.2_Missense_Mutation_p.V70F|SLC44A3_uc010ott.1_Missense_Mutation_p.V87F|SLC44A3_uc010otu.1_RNA	NM_001114106	NP_001107578	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3 isoform 1	167						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)	1		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)													---	---	---	---	capture		Missense_Mutation	SNP	95294132	95294132	15134	1	G	T	T	36	36	SLC44A3	T	2	2
DBT	1629	broad.mit.edu	37	1	100681747	100681747	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100681747C>T	uc001dta.2	-	6	597	c.564G>A	c.(562-564)CTG>CTA	p.L188L	DBT_uc010oug.1_Silent_p.L7L	NM_001918	NP_001909	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase	188					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			pancreas(1)	1		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)														---	---	---	---	capture		Silent	SNP	100681747	100681747	4429	1	C	T	T	29	29	DBT	T	2	2
COL11A1	1301	broad.mit.edu	37	1	103380328	103380328	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103380328G>A	uc001dul.2	-	51	4174	c.3856C>T	c.(3856-3858)CCA>TCA	p.P1286S	COL11A1_uc001duk.2_Missense_Mutation_p.P482S|COL11A1_uc001dum.2_Missense_Mutation_p.P1298S|COL11A1_uc001dun.2_Missense_Mutation_p.P1247S|COL11A1_uc009weh.2_Missense_Mutation_p.P1170S	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1286	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)														---	---	---	---	capture		Missense_Mutation	SNP	103380328	103380328	3805	1	G	A	A	41	41	COL11A1	A	2	2
COL11A1	1301	broad.mit.edu	37	1	103471654	103471654	+	Silent	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103471654T>C	uc001dul.2	-	17	2079	c.1761A>G	c.(1759-1761)GGA>GGG	p.G587G	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.G599G|COL11A1_uc001dun.2_Silent_p.G548G|COL11A1_uc009weh.2_Silent_p.G471G	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	587	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)														---	---	---	---	capture		Silent	SNP	103471654	103471654	3805	1	T	C	C	62	62	COL11A1	C	4	4
CELSR2	1952	broad.mit.edu	37	1	109815523	109815523	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109815523C>A	uc001dxa.3	+	31	8273	c.8212C>A	c.(8212-8214)CAC>AAC	p.H2738N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2738	Cytoplasmic (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)														---	---	---	---	capture		Missense_Mutation	SNP	109815523	109815523	3355	1	C	A	A	21	21	CELSR2	A	2	2
GSTM5	2949	broad.mit.edu	37	1	110255769	110255769	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110255769G>T	uc001dyn.2	+	3	212	c.141G>T	c.(139-141)CTG>CTT	p.L47L	GSTM5_uc010ovu.1_5'UTR	NM_000851	NP_000842	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	47	Glutathione binding (By similarity).|GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			central_nervous_system(6)	6		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)													---	---	---	---	capture		Silent	SNP	110255769	110255769	7121	1	G	T	T	45	45	GSTM5	T	2	2
DCLRE1B	64858	broad.mit.edu	37	1	114448230	114448230	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114448230C>A	uc001eeg.2	+	1	193	c.22C>A	c.(22-24)CAT>AAT	p.H8N	AP4B1_uc001eeb.2_5'Flank|AP4B1_uc001eec.2_5'Flank|AP4B1_uc001eed.2_5'Flank|AP4B1_uc010owp.1_5'Flank|AP4B1_uc010owq.1_5'Flank|DCLRE1B_uc001eeh.2_5'UTR|DCLRE1B_uc001eei.2_5'UTR	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	8					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding				0	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)									Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---	capture		Missense_Mutation	SNP	114448230	114448230	4466	1	C	A	A	21	21	DCLRE1B	A	2	2
ZNF697	90874	broad.mit.edu	37	1	120165764	120165764	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120165764C>T	uc001ehy.1	-	3	1316	c.1202G>A	c.(1201-1203)CGC>CAC	p.R401H		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	401	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)														---	---	---	---	capture		Missense_Mutation	SNP	120165764	120165764	18695	1	C	T	T	27	27	ZNF697	T	1	1
ANKRD34A	284615	broad.mit.edu	37	1	145474241	145474241	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145474241G>C	uc001enq.1	+	4	2206	c.913G>C	c.(913-915)GTG>CTG	p.V305L	NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34	305	Pro-rich.										0	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---	capture		Missense_Mutation	SNP	145474241	145474241	669	1	G	C	C	36	36	ANKRD34A	C	3	3
POLR3C	10623	broad.mit.edu	37	1	145606314	145606314	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145606314G>T	uc001eoh.2	-	5	800	c.639C>A	c.(637-639)CCC>CCA	p.P213P	NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Silent_p.P226P|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Silent_p.P213P	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	213					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)															---	---	---	---	capture		Silent	SNP	145606314	145606314	12658	1	G	T	T	47	47	POLR3C	T	2	2
GJA5	2702	broad.mit.edu	37	1	147230344	147230344	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147230344G>T	uc001eps.1	-	2	1144	c.1003C>A	c.(1003-1005)CAT>AAT	p.H335N	GJA5_uc001ept.1_Missense_Mutation_p.H335N	NM_181703	NP_859054	P36382	CXA5_HUMAN	connexin 40	335	Cytoplasmic (Potential).				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				ovary(1)	1	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	147230344	147230344	6672	1	G	T	T	47	47	GJA5	T	2	2
LOC200030	200030	broad.mit.edu	37	1	148342007	148342007	+	Splice_Site	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:148342007C>A	uc001eqf.2	-	5	602	c.567_splice	c.e5-1	p.R189_splice	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|NBPF14_uc009wkf.1_Splice_Site|uc001erd.3_Splice_Site_p.R189_splice|uc001erc.3_Splice_Site|uc010paj.1_Intron|uc010pau.1_Splice_Site|uc010pav.1_Splice_Site_p.R189_splice|uc010paw.1_Splice_Site_p.R114_splice	NM_017940	NP_060410			hypothetical protein LOC55672							cytoplasm					0																		---	---	---	---	capture		Splice_Site	SNP	148342007	148342007	9211	1	C	A	A	24	24	LOC200030	A	5	2
BOLA1	51027	broad.mit.edu	37	1	149871805	149871805	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149871805G>A	uc001etf.2	+	2	314	c.193G>A	c.(193-195)GAG>AAG	p.E65K		NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	bolA-like 1	65						extracellular region	protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)															---	---	---	---	capture		Missense_Mutation	SNP	149871805	149871805	1510	1	G	A	A	45	45	BOLA1	A	2	2
TCHH	7062	broad.mit.edu	37	1	152080251	152080251	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152080251G>T	uc001ezp.2	-	2	5442	c.5442C>A	c.(5440-5442)CCC>CCA	p.P1814P	TCHH_uc009wne.1_Silent_p.P1814P	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1814	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---	capture		Silent	SNP	152080251	152080251	16226	1	G	T	T	43	43	TCHH	T	2	2
FLG	2312	broad.mit.edu	37	1	152281417	152281417	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152281417G>T	uc001ezu.1	-	3	5981	c.5945C>A	c.(5944-5946)ACA>AAA	p.T1982K		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1982	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---	capture		Missense_Mutation	SNP	152281417	152281417	6160	1	G	T	T	48	48	FLG	T	2	2
FLG	2312	broad.mit.edu	37	1	152285257	152285257	+	Nonsense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152285257G>C	uc001ezu.1	-	3	2141	c.2105C>G	c.(2104-2106)TCA>TGA	p.S702*	uc001ezv.2_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	702	Filaggrin 4.|Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---	capture		Nonsense_Mutation	SNP	152285257	152285257	6160	1	G	C	C	45	45	FLG	C	5	3
FLG2	388698	broad.mit.edu	37	1	152323605	152323605	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152323605C>A	uc001ezw.3	-	3	6730	c.6657G>T	c.(6655-6657)CAG>CAT	p.Q2219H	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	2219							calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---	capture		Missense_Mutation	SNP	152323605	152323605	6161	1	C	A	A	24	24	FLG2	A	2	2
YY1AP1	55249	broad.mit.edu	37	1	155629621	155629621	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155629621C>T	uc001fln.2	-	11	2242	c.2218G>A	c.(2218-2220)GAG>AAG	p.E740K	YY1AP1_uc001flg.2_Missense_Mutation_p.E479K|YY1AP1_uc010pgg.1_Missense_Mutation_p.E579K|YY1AP1_uc010pgh.1_Missense_Mutation_p.E683K|YY1AP1_uc010pgi.1_Missense_Mutation_p.E832K|YY1AP1_uc001flh.2_Missense_Mutation_p.E812K|YY1AP1_uc009wqt.2_Missense_Mutation_p.E663K|YY1AP1_uc001flk.2_Missense_Mutation_p.E683K|YY1AP1_uc001fll.2_Missense_Mutation_p.E694K|YY1AP1_uc009wqv.2_Missense_Mutation_p.E411K|YY1AP1_uc001flm.2_Missense_Mutation_p.E683K|YY1AP1_uc001fli.2_Missense_Mutation_p.E694K|YY1AP1_uc009wqu.2_Missense_Mutation_p.E527K|YY1AP1_uc001flj.2_Missense_Mutation_p.E674K|YY1AP1_uc009wqw.2_Missense_Mutation_p.E663K|YY1AP1_uc001flo.2_Missense_Mutation_p.E628K|YY1AP1_uc001flp.2_Missense_Mutation_p.E694K	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN	YY1-associated protein isoform 2	740					regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			ovary(2)|skin(1)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)																	---	---	---	---	capture		Missense_Mutation	SNP	155629621	155629621	18091	1	C	T	T	32	32	YY1AP1	T	2	2
TMEM79	84283	broad.mit.edu	37	1	156256056	156256056	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156256056C>A	uc010phi.1	+	3	959	c.763C>A	c.(763-765)CTG>ATG	p.L255M	TMEM79_uc001fod.2_Missense_Mutation_p.L96M|TMEM79_uc009wrw.2_Missense_Mutation_p.L255M	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	255	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1	Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156256056	156256056	16742	1	C	A	A	24	24	TMEM79	A	2	2
OR10J5	127385	broad.mit.edu	37	1	159504988	159504988	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159504988G>T	uc010piw.1	-	1	810	c.810C>A	c.(808-810)GAC>GAA	p.D270E		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	all_hematologic(112;0.0429)																	---	---	---	---	capture		Missense_Mutation	SNP	159504988	159504988	11318	1	G	T	T	44	44	OR10J5	T	2	2
ITLN2	142683	broad.mit.edu	37	1	160920480	160920480	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160920480G>C	uc001fxd.2	-	5	521	c.463C>G	c.(463-465)CAG>GAG	p.Q155E	ITLN2_uc009wts.2_Missense_Mutation_p.Q154E|ITLN2_uc010pju.1_Missense_Mutation_p.Q72E	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	intelectin 2 precursor	155	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			ovary(1)	1	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)															---	---	---	---	capture		Missense_Mutation	SNP	160920480	160920480	8215	1	G	C	C	47	47	ITLN2	C	3	3
F5	2153	broad.mit.edu	37	1	169519234	169519234	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169519234G>C	uc001ggg.1	-	10	1561	c.1416C>G	c.(1414-1416)ATC>ATG	p.I472M	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	472	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)													---	---	---	---	capture		Missense_Mutation	SNP	169519234	169519234	5542	1	G	C	C	45	45	F5	C	3	3
TNN	63923	broad.mit.edu	37	1	175046647	175046647	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175046647C>A	uc001gkl.1	+	2	206	c.93C>A	c.(91-93)CCC>CCA	p.P31P	TNN_uc010pmx.1_Silent_p.P31P	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	31					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)														---	---	---	---	capture		Silent	SNP	175046647	175046647	16864	1	C	A	A	23	23	TNN	A	1	1
TNR	7143	broad.mit.edu	37	1	175306756	175306756	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175306756A>C	uc001gkp.1	-	17	3523	c.3442T>G	c.(3442-3444)TTG>GTG	p.L1148V	TNR_uc009wwu.1_Missense_Mutation_p.L1148V	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1148	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---	capture		Missense_Mutation	SNP	175306756	175306756	16879	1	A	C	C	1	1	TNR	C	4	4
FAM5B	57795	broad.mit.edu	37	1	177249554	177249554	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177249554G>T	uc001glf.2	+	8	1554	c.1242G>T	c.(1240-1242)TTG>TTT	p.L414F	FAM5B_uc001glg.2_Missense_Mutation_p.L309F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	family with sequence similarity 5, member B	414						extracellular region				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	177249554	177249554	5816	1	G	T	T	48	48	FAM5B	T	2	2
CEP350	9857	broad.mit.edu	37	1	179966170	179966170	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179966170G>T	uc001gnt.2	+	6	1261	c.878G>T	c.(877-879)TGG>TTG	p.W293L	CEP350_uc001gnr.1_Missense_Mutation_p.W267L|CEP350_uc009wxl.2_Missense_Mutation_p.W292L|CEP350_uc001gnu.2_Missense_Mutation_p.W127L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	293						centrosome|nucleus|spindle				ovary(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	179966170	179966170	3387	1	G	T	T	47	47	CEP350	T	2	2
APOBEC4	403314	broad.mit.edu	37	1	183617058	183617058	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183617058G>T	uc001gqn.2	-	2	1131	c.859C>A	c.(859-861)CTC>ATC	p.L287I	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	apolipoprotein B	287					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	183617058	183617058	807	1	G	T	T	35	35	APOBEC4	T	2	2
LGR6	59352	broad.mit.edu	37	1	202279402	202279402	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202279402G>T	uc001gxu.2	+	16	1484	c.1484G>T	c.(1483-1485)TGG>TTG	p.W495L	LGR6_uc001gxv.2_Missense_Mutation_p.W443L|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.W356L	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	leucine-rich repeat-containing G protein-coupled	495	Extracellular (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	202279402	202279402	9084	1	G	T	T	47	47	LGR6	T	2	2
CHIT1	1118	broad.mit.edu	37	1	203192298	203192298	+	Silent	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203192298A>G	uc001gzn.2	-	6	666	c.570T>C	c.(568-570)TAT>TAC	p.Y190Y	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_5'UTR|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Silent_p.Y181Y	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	190					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0																		---	---	---	---	capture		Silent	SNP	203192298	203192298	3480	1	A	G	G	8	8	CHIT1	G	4	4
ZC3H11A	9877	broad.mit.edu	37	1	203809458	203809458	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203809458A>T	uc001hac.2	+	14	1614	c.998A>T	c.(997-999)GAG>GTG	p.E333V	ZC3H11A_uc001had.2_Missense_Mutation_p.E333V|ZC3H11A_uc001hae.2_Missense_Mutation_p.E333V|ZC3H11A_uc001haf.2_Missense_Mutation_p.E333V|ZC3H11A_uc010pqm.1_Missense_Mutation_p.E279V|ZC3H11A_uc001hag.1_Missense_Mutation_p.E333V	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	333							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---	capture		Missense_Mutation	SNP	203809458	203809458	18148	1	A	T	T	11	11	ZC3H11A	T	4	4
MIA3	375056	broad.mit.edu	37	1	222802599	222802599	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222802599G>T	uc001hnl.2	+	4	2046	c.2037G>T	c.(2035-2037)GAG>GAT	p.E679D	MIA3_uc009xea.1_Missense_Mutation_p.E515D	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	679	Extracellular (Potential).				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)														---	---	---	---	capture		Missense_Mutation	SNP	222802599	222802599	9955	1	G	T	T	35	35	MIA3	T	2	2
PSEN2	5664	broad.mit.edu	37	1	227071548	227071548	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227071548T>C	uc009xeo.1	+	5	711	c.284T>C	c.(283-285)GTC>GCC	p.V95A	PSEN2_uc009xep.1_Missense_Mutation_p.V95A|PSEN2_uc001hqk.2_RNA	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	95	Helical; (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			lung(2)	2		Prostate(94;0.0771)																---	---	---	---	capture		Missense_Mutation	SNP	227071548	227071548	13104	1	T	C	C	58	58	PSEN2	C	4	4
CDC42BPA	8476	broad.mit.edu	37	1	227203781	227203781	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227203781C>A	uc001hqr.2	-	33	5695	c.4752G>T	c.(4750-4752)ATG>ATT	p.M1584I	CDC42BPA_uc001hqq.2_Missense_Mutation_p.M883I|CDC42BPA_uc001hqs.2_Missense_Mutation_p.M1503I|CDC42BPA_uc009xes.2_Missense_Mutation_p.M1556I|CDC42BPA_uc010pvs.1_Missense_Mutation_p.M1564I|CDC42BPA_uc001hqp.2_Missense_Mutation_p.M740I|CDC42BPA_uc001hqt.2_Missense_Mutation_p.M462I	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	1597					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)																---	---	---	---	capture		Missense_Mutation	SNP	227203781	227203781	3200	1	C	A	A	21	21	CDC42BPA	A	2	2
TRIM67	440730	broad.mit.edu	37	1	231344869	231344869	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231344869C>A	uc009xfn.1	+	8	2038	c.1996C>A	c.(1996-1998)CCC>ACC	p.P666T		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	666	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)																---	---	---	---	capture		Missense_Mutation	SNP	231344869	231344869	17089	1	C	A	A	22	22	TRIM67	A	2	2
RYR2	6262	broad.mit.edu	37	1	237550650	237550650	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237550650C>A	uc001hyl.1	+	9	766	c.646C>A	c.(646-648)CCA>ACA	p.P216T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	216	Cytoplasmic (By similarity).|MIR 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---	capture		Missense_Mutation	SNP	237550650	237550650	14249	1	C	A	A	22	22	RYR2	A	2	2
RYR2	6262	broad.mit.edu	37	1	237756920	237756920	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237756920G>C	uc001hyl.1	+	33	4540	c.4420G>C	c.(4420-4422)GGA>CGA	p.G1474R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1474	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---	capture		Missense_Mutation	SNP	237756920	237756920	14249	1	G	C	C	35	35	RYR2	C	3	3
ZP4	57829	broad.mit.edu	37	1	238050715	238050715	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:238050715G>T	uc001hym.2	-	5	700	c.700C>A	c.(700-702)CTG>ATG	p.L234M	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	234	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)															---	---	---	---	capture		Missense_Mutation	SNP	238050715	238050715	18822	1	G	T	T	33	33	ZP4	T	2	2
AHCTF1	25909	broad.mit.edu	37	1	247040362	247040362	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247040362G>A	uc001ibu.1	-	22	2834	c.2827C>T	c.(2827-2829)CAG>TAG	p.Q943*	AHCTF1_uc001ibv.1_Nonsense_Mutation_p.Q952*|AHCTF1_uc009xgs.1_5'UTR|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	943	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---	capture		Nonsense_Mutation	SNP	247040362	247040362	411	1	G	A	A	46	46	AHCTF1	A	5	2
OR6F1	343169	broad.mit.edu	37	1	247875683	247875683	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247875683G>A	uc001idj.1	-	1	375	c.375C>T	c.(373-375)GCC>GCT	p.A125A		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-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)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)															---	---	---	---	capture		Silent	SNP	247875683	247875683	11611	1	G	A	A	47	47	OR6F1	A	2	2
GTPBP4	23560	broad.mit.edu	37	10	1043236	1043236	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1043236C>A	uc001ift.2	+	5	620	c.549C>A	c.(547-549)AGC>AGA	p.S183R	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.S67R|GTPBP4_uc010qae.1_Missense_Mutation_p.S136R	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	183					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)														---	---	---	---	capture		Missense_Mutation	SNP	1043236	1043236	7162	10	C	A	A	28	28	GTPBP4	A	2	2
SVIL	6840	broad.mit.edu	37	10	29812458	29812458	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29812458A>C	uc001iut.1	-	15	3838	c.3085T>G	c.(3085-3087)TTG>GTG	p.L1029V	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.L603V	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1029					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---	capture		Missense_Mutation	SNP	29812458	29812458	15941	10	A	C	C	3	3	SVIL	C	4	4
ZNF239	8187	broad.mit.edu	37	10	44052891	44052891	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44052891C>A	uc001jaw.3	-	2	1290	c.637G>T	c.(637-639)GGT>TGT	p.G213C	ZNF239_uc001jax.3_Missense_Mutation_p.G213C|ZNF239_uc009xmj.2_Missense_Mutation_p.G213C|ZNF239_uc009xmk.2_Missense_Mutation_p.G213C	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	213	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	44052891	44052891	18382	10	C	A	A	21	21	ZNF239	A	2	2
LRRC20	55222	broad.mit.edu	37	10	72061170	72061170	+	Silent	SNP	C	T	T	rs149319681		TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72061170C>T	uc001jqx.1	-	5	717	c.495G>A	c.(493-495)CCG>CCA	p.P165P	LRRC20_uc001jqy.1_Silent_p.P109P|LRRC20_uc001jqz.1_Silent_p.P115P	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20 isoform 1	165	LRR 5.										0																		---	---	---	---	capture		Silent	SNP	72061170	72061170	9351	10	C	T	T	27	27	LRRC20	T	1	1
PTEN	5728	broad.mit.edu	37	10	89717678	89717678	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89717678G>T	uc001kfb.2	+	8	1734	c.703G>T	c.(703-705)GAA>TAA	p.E235*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	235	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E235*(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.E235fs*9(1)|p.G165_K342del(1)|p.E235fs*25(1)|p.E235G(1)|p.R234fs*9(1)|p.R233fs*20(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	---	---	---	capture		Nonsense_Mutation	SNP	89717678	89717678	13192	10	G	T	T	41	41	PTEN	T	5	2
IFIT3	3437	broad.mit.edu	37	10	91099511	91099511	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91099511C>A	uc001kgf.2	+	2	1328	c.1099C>A	c.(1099-1101)CTT>ATT	p.L367I	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Missense_Mutation_p.L367I	NM_001549	NP_001540	O14879	IFIT3_HUMAN	interferon-induced protein with	367					type I interferon-mediated signaling pathway		protein binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	91099511	91099511	7825	10	C	A	A	24	24	IFIT3	A	2	2
KIF20B	9585	broad.mit.edu	37	10	91486250	91486250	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91486250C>A	uc001kgs.1	+	16	2274	c.2202C>A	c.(2200-2202)ACC>ACA	p.T734T	KIF20B_uc001kgr.1_Silent_p.T694T|KIF20B_uc001kgt.1_5'UTR	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	734	Potential.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	91486250	91486250	8598	10	C	A	A	21	21	KIF20B	A	2	2
SEC31B	25956	broad.mit.edu	37	10	102262016	102262016	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102262016G>T	uc001krc.1	-	11	1507	c.1405C>A	c.(1405-1407)CTG>ATG	p.L469M	SEC31B_uc010qpo.1_Missense_Mutation_p.L468M|SEC31B_uc001krd.1_Translation_Start_Site|SEC31B_uc001krf.1_Translation_Start_Site|SEC31B_uc001kre.1_Translation_Start_Site|SEC31B_uc001krg.1_Missense_Mutation_p.L38M	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	SEC31 homolog B	469					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				ovary(1)	1		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)														---	---	---	---	capture		Missense_Mutation	SNP	102262016	102262016	14485	10	G	T	T	35	35	SEC31B	T	2	2
SFXN2	118980	broad.mit.edu	37	10	104491932	104491932	+	Silent	SNP	C	A	A	rs139737561	byFrequency	TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104491932C>A	uc001kwb.2	+	8	844	c.678C>A	c.(676-678)ACC>ACA	p.T226T	SFXN2_uc001kwc.2_Intron|SFXN2_uc001kwd.2_Intron	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	226					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)														---	---	---	---	capture		Silent	SNP	104491932	104491932	14686	10	C	A	A	22	22	SFXN2	A	2	2
CNNM2	54805	broad.mit.edu	37	10	104679115	104679115	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104679115G>T	uc001kwm.2	+	1	1002	c.878G>T	c.(877-879)TGC>TTC	p.C293F	CNNM2_uc001kwn.2_Missense_Mutation_p.C293F|CNNM2_uc001kwl.2_Missense_Mutation_p.C293F	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	cyclin M2 isoform 1	293	DUF21.				ion transport	integral to membrane				ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---	capture		Missense_Mutation	SNP	104679115	104679115	3751	10	G	T	T	46	46	CNNM2	T	2	2
C10orf79	80217	broad.mit.edu	37	10	105903234	105903234	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105903234A>C	uc001kxw.2	-	32	4224	c.4108T>G	c.(4108-4110)TGG>GGG	p.W1370G	C10orf79_uc009xxq.2_Missense_Mutation_p.W649G	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	1370											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)														---	---	---	---	capture		Missense_Mutation	SNP	105903234	105903234	1655	10	A	C	C	7	7	C10orf79	C	4	4
CCDC147	159686	broad.mit.edu	37	10	106152087	106152087	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106152087C>G	uc001kyh.2	+	10	1596	c.1462C>G	c.(1462-1464)CAG>GAG	p.Q488E		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	488	Potential.									ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)														---	---	---	---	capture		Missense_Mutation	SNP	106152087	106152087	2901	10	C	G	G	17	17	CCDC147	G	3	3
AFAP1L2	84632	broad.mit.edu	37	10	116075338	116075338	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116075338A>G	uc001lbn.2	-	6	894	c.593T>C	c.(592-594)ATC>ACC	p.I198T	AFAP1L2_uc001lbo.2_Missense_Mutation_p.I198T|AFAP1L2_uc010qse.1_Missense_Mutation_p.I251T|AFAP1L2_uc001lbp.2_Missense_Mutation_p.I226T|AFAP1L2_uc001lbr.1_Missense_Mutation_p.I198T	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	KIAA1914 protein isoform 1	198	PH 1.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			ovary(1)|breast(1)	2		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)														---	---	---	---	capture		Missense_Mutation	SNP	116075338	116075338	356	10	A	G	G	12	12	AFAP1L2	G	4	4
TACC2	10579	broad.mit.edu	37	10	123970767	123970767	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123970767G>T	uc001lfv.2	+	9	7187	c.6827G>T	c.(6826-6828)TGG>TTG	p.W2276L	TACC2_uc001lfw.2_Missense_Mutation_p.W422L|TACC2_uc009xzx.2_Missense_Mutation_p.W2231L|TACC2_uc010qtv.1_Missense_Mutation_p.W2280L|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.W354L|TACC2_uc001lga.2_Missense_Mutation_p.W354L|TACC2_uc009xzy.2_Missense_Mutation_p.W354L|TACC2_uc001lgb.2_Missense_Mutation_p.W311L|TACC2_uc010qtw.1_Missense_Mutation_p.W371L	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2276						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)																---	---	---	---	capture		Missense_Mutation	SNP	123970767	123970767	16023	10	G	T	T	47	47	TACC2	T	2	2
DMBT1	1755	broad.mit.edu	37	10	124380658	124380658	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124380658G>T	uc001lgk.1	+	41	5089	c.4983G>T	c.(4981-4983)TGG>TGT	p.W1661C	DMBT1_uc001lgl.1_Missense_Mutation_p.W1651C|DMBT1_uc001lgm.1_Missense_Mutation_p.W1033C|DMBT1_uc009xzz.1_Missense_Mutation_p.W1661C|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.W364C|DMBT1_uc009yac.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1661	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)																---	---	---	---	capture		Missense_Mutation	SNP	124380658	124380658	4757	10	G	T	T	43	43	DMBT1	T	2	2
FOXI2	399823	broad.mit.edu	37	10	129537185	129537185	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129537185C>G	uc009yas.2	+	2	913	c.913C>G	c.(913-915)CGC>GGC	p.R305G	uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	305					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)																---	---	---	---	capture		Missense_Mutation	SNP	129537185	129537185	6255	10	C	G	G	23	23	FOXI2	G	3	3
JAKMIP3	282973	broad.mit.edu	37	10	133976837	133976837	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:133976837G>T	uc001lkx.3	+	19	2339	c.2339G>T	c.(2338-2340)CGC>CTC	p.R780L	JAKMIP3_uc009yba.1_Missense_Mutation_p.R217L	NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---	capture		Missense_Mutation	SNP	133976837	133976837	8246	10	G	T	T	38	38	JAKMIP3	T	1	1
KNDC1	85442	broad.mit.edu	37	10	134999760	134999760	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134999760G>T	uc001llz.1	+	6	909	c.908G>T	c.(907-909)CGG>CTG	p.R303L	KNDC1_uc001lma.1_Missense_Mutation_p.R238L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	303					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)														---	---	---	---	capture		Missense_Mutation	SNP	134999760	134999760	8740	10	G	T	T	39	39	KNDC1	T	1	1
ADAM8	101	broad.mit.edu	37	10	135086333	135086333	+	Missense_Mutation	SNP	C	A	A	rs147537421		TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135086333C>A	uc010qva.1	-	7	608	c.557G>T	c.(556-558)CGG>CTG	p.R186L	ADAM8_uc010quz.1_Missense_Mutation_p.R225L|ADAM8_uc009ybi.2_Missense_Mutation_p.R225L|ADAM8_uc010qvb.1_Missense_Mutation_p.R200L|ADAM8_uc009ybj.1_RNA			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	186					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)														---	---	---	---	capture		Missense_Mutation	SNP	135086333	135086333	253	10	C	A	A	23	23	ADAM8	A	1	1
SYT9	143425	broad.mit.edu	37	11	7324382	7324382	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7324382C>T	uc001mfe.2	+	2	495	c.258C>T	c.(256-258)GGC>GGT	p.G86G	SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	synaptotagmin IX	86	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|large_intestine(1)	3				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)														---	---	---	---	capture		Silent	SNP	7324382	7324382	16002	11	C	T	T	26	26	SYT9	T	2	2
OR5P2	120065	broad.mit.edu	37	11	7818198	7818198	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7818198C>A	uc001mfp.1	-	1	292	c.292G>T	c.(292-294)GGT>TGT	p.G98C		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P,	98	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---	capture		Missense_Mutation	SNP	7818198	7818198	11588	11	C	A	A	21	21	OR5P2	A	2	2
ST5	6764	broad.mit.edu	37	11	8737260	8737260	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8737260G>A	uc001mgt.2	-	6	1921	c.1735C>T	c.(1735-1737)CTG>TTG	p.L579L	ST5_uc009yfr.2_Silent_p.L159L|ST5_uc001mgu.2_Silent_p.L159L|ST5_uc001mgv.2_Silent_p.L579L|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Silent_p.L92L	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	579					positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)														---	---	---	---	capture		Silent	SNP	8737260	8737260	15738	11	G	A	A	34	34	ST5	A	2	2
MRVI1	10335	broad.mit.edu	37	11	10651189	10651189	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10651189T>C	uc010rcc.1	-	5	856	c.470A>G	c.(469-471)AAG>AGG	p.K157R	MRVI1_uc001miw.2_Missense_Mutation_p.K148R|MRVI1_uc010rcb.1_Missense_Mutation_p.K148R|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.K66R|MRVI1_uc009ygc.1_Missense_Mutation_p.K66R|MRVI1_uc010rcd.1_Missense_Mutation_p.K157R|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_RNA	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	148	Interaction with PRKG1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)														---	---	---	---	capture		Missense_Mutation	SNP	10651189	10651189	10246	11	T	C	C	56	56	MRVI1	C	4	4
MYOD1	4654	broad.mit.edu	37	11	17741532	17741532	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17741532C>A	uc001mni.2	+	1	423	c.203C>A	c.(202-204)GCG>GAG	p.A68E		NM_002478	NP_002469	P15172	MYOD1_HUMAN	myogenic differentiation 1	68					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	17741532	17741532	10483	11	C	A	A	27	27	MYOD1	A	1	1
TPH1	7166	broad.mit.edu	37	11	18050822	18050822	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18050822G>T	uc001mnp.2	-	5	583	c.557C>A	c.(556-558)CCA>CAA	p.P186Q	TPH1_uc009yhe.2_Intron	NM_004179	NP_004170	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	186					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity				0					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)													---	---	---	---	capture		Missense_Mutation	SNP	18050822	18050822	16945	11	G	T	T	47	47	TPH1	T	2	2
TSG101	7251	broad.mit.edu	37	11	18536390	18536390	+	Splice_Site	SNP	T	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18536390T>G	uc001mor.2	-	4	320	c.194_splice	c.e4-1	p.G65_splice	TSG101_uc001mos.1_Splice_Site_p.G13_splice|TSG101_uc009yhs.1_Intron	NM_006292	NP_006283			tumor susceptibility gene 101						cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding				0																		---	---	---	---	capture		Splice_Site	SNP	18536390	18536390	17167	11	T	G	G	55	55	TSG101	G	5	4
HIPK3	10114	broad.mit.edu	37	11	33368881	33368881	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33368881G>T	uc001mul.1	+	9	2210	c.1940G>T	c.(1939-1941)AGG>ATG	p.R647M	HIPK3_uc001mum.1_Missense_Mutation_p.R647M|HIPK3_uc009yjv.1_Missense_Mutation_p.R647M	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	647					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	33368881	33368881	7403	11	G	T	T	35	35	HIPK3	T	2	2
C11orf41	25758	broad.mit.edu	37	11	33564293	33564293	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33564293G>T	uc001mup.3	+	1	417	c.293G>T	c.(292-294)GGA>GTA	p.G98V	C11orf41_uc001mun.1_Missense_Mutation_p.G98V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	98						integral to membrane				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	33564293	33564293	1679	11	G	T	T	41	41	C11orf41	T	2	2
CD44	960	broad.mit.edu	37	11	35227670	35227670	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35227670C>T	uc001mvu.2	+	11	1728	c.1294C>T	c.(1294-1296)CAT>TAT	p.H432Y	CD44_uc001mvv.2_Missense_Mutation_p.H389Y|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_5'UTR|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	432	Extracellular (Potential).|Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)													---	---	---	---	capture		Missense_Mutation	SNP	35227670	35227670	3145	11	C	T	T	29	29	CD44	T	2	2
SLC35C1	55343	broad.mit.edu	37	11	45827365	45827365	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45827365C>A	uc001nbp.2	+	1	725	c.13C>A	c.(13-15)CCT>ACT	p.P5T	SLC35C1_uc001nbo.2_5'UTR|SLC35C1_uc010rgm.1_5'UTR	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN	GDP-fucose transporter 1 isoform a	5						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity				0				GBM - Glioblastoma multiforme(35;0.227)														---	---	---	---	capture		Missense_Mutation	SNP	45827365	45827365	15076	11	C	A	A	22	22	SLC35C1	A	2	2
OR4B1	119765	broad.mit.edu	37	11	48238439	48238439	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48238439T>A	uc010rhs.1	+	1	78	c.78T>A	c.(76-78)TTT>TTA	p.F26L		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B,	26	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|pancreas(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	48238439	48238439	11450	11	T	A	A	63	63	OR4B1	A	4	4
OR4C13	283092	broad.mit.edu	37	11	49974618	49974618	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49974618C>T	uc010rhz.1	+	1	644	c.644C>T	c.(643-645)TCC>TTC	p.S215F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	49974618	49974618	11453	11	C	T	T	30	30	OR4C13	T	2	2
OR4C6	219432	broad.mit.edu	37	11	55433437	55433437	+	Silent	SNP	A	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55433437A>T	uc001nht.3	+	3	1060	c.795A>T	c.(793-795)ATA>ATT	p.I265I	OR4C6_uc010rik.1_Silent_p.I265I	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2																		---	---	---	---	capture		Silent	SNP	55433437	55433437	11459	11	A	T	T	15	15	OR4C6	T	4	4
OR5L2	26338	broad.mit.edu	37	11	55595379	55595379	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55595379C>T	uc001nhy.1	+	1	685	c.685C>T	c.(685-687)CAC>TAC	p.H229Y		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L,	229	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_epithelial(135;0.208)													HNSCC(27;0.073)			---	---	---	---	capture		Missense_Mutation	SNP	55595379	55595379	11581	11	C	T	T	17	17	OR5L2	T	2	2
OR5I1	10798	broad.mit.edu	37	11	55703717	55703717	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55703717C>T	uc010ris.1	-	1	160	c.160G>A	c.(160-162)GAT>AAT	p.D54N		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	55703717	55703717	11574	11	C	T	T	29	29	OR5I1	T	2	2
OR8I2	120586	broad.mit.edu	37	11	55861574	55861574	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55861574C>T	uc010rix.1	+	1	791	c.791C>T	c.(790-792)ACA>ATA	p.T264I		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)																	---	---	---	---	capture		Missense_Mutation	SNP	55861574	55861574	11651	11	C	T	T	17	17	OR8I2	T	2	2
OR9G4	283189	broad.mit.edu	37	11	56510796	56510796	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56510796G>A	uc010rjo.1	-	1	492	c.492C>T	c.(490-492)TAC>TAT	p.Y164Y		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	164	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	56510796	56510796	11662	11	G	A	A	48	48	OR9G4	A	2	2
SSRP1	6749	broad.mit.edu	37	11	57095329	57095329	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57095329G>T	uc001njt.2	-	14	1906	c.1639C>A	c.(1639-1641)CCC>ACC	p.P547T	TNKS1BP1_uc001njs.2_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	547	HMG box.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	57095329	57095329	15710	11	G	T	T	43	43	SSRP1	T	2	2
P2RX3	5024	broad.mit.edu	37	11	57114020	57114020	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57114020G>T	uc001nju.2	+	2	198	c.122G>T	c.(121-123)TGG>TTG	p.W41L		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	41	Helical; Name=1; (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	57114020	57114020	11754	11	G	T	T	47	47	P2RX3	T	2	2
OR5B2	390190	broad.mit.edu	37	11	58190505	58190505	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58190505G>T	uc010rkg.1	-	1	230	c.230C>A	c.(229-231)CCC>CAC	p.P77H		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	77	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---	capture		Missense_Mutation	SNP	58190505	58190505	11560	11	G	T	T	43	43	OR5B2	T	2	2
OR5AN1	390195	broad.mit.edu	37	11	59132553	59132553	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59132553G>T	uc010rks.1	+	1	622	c.622G>T	c.(622-624)GGG>TGG	p.G208W		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	59132553	59132553	11553	11	G	T	T	47	47	OR5AN1	T	2	2
OR4D11	219986	broad.mit.edu	37	11	59271511	59271511	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59271511C>T	uc001noa.1	+	1	463	c.463C>T	c.(463-465)CAC>TAC	p.H155Y		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D,	155	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	59271511	59271511	11462	11	C	T	T	21	21	OR4D11	T	2	2
MS4A6E	245802	broad.mit.edu	37	11	60102454	60102454	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60102454C>A	uc001npd.2	+	1	100	c.86C>A	c.(85-87)CCC>CAC	p.P29H		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member	29	Cytoplasmic (Potential).					integral to membrane	receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	60102454	60102454	10258	11	C	A	A	22	22	MS4A6E	A	2	2
PRPF19	27339	broad.mit.edu	37	11	60665636	60665636	+	Silent	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60665636G>C	uc001nqf.2	-	14	1455	c.1248C>G	c.(1246-1248)GTC>GTG	p.V416V		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	PRP19/PSO4 pre-mRNA processing factor 19	416	WD 5.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	60665636	60665636	13007	11	G	C	C	45	45	PRPF19	C	3	3
C11orf10	746	broad.mit.edu	37	11	61557389	61557389	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61557389C>A	uc001nsf.2	-	3	173	c.118G>T	c.(118-120)GAG>TAG	p.E40*	FEN1_uc001nsg.2_5'Flank	NM_014206	NP_055021	P61165	CK010_HUMAN	hypothetical protein LOC746	40						integral to membrane				breast(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	61557389	61557389	1667	11	C	A	A	31	31	C11orf10	A	5	1
AHNAK	79026	broad.mit.edu	37	11	62293704	62293704	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62293704G>T	uc001ntl.2	-	5	8485	c.8185C>A	c.(8185-8187)CTT>ATT	p.L2729I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2729					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---	capture		Missense_Mutation	SNP	62293704	62293704	417	11	G	T	T	35	35	AHNAK	T	2	2
MTA2	9219	broad.mit.edu	37	11	62361826	62361826	+	Silent	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62361826C>G	uc001ntq.1	-	17	2127	c.1746G>C	c.(1744-1746)GGG>GGC	p.G582G	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Silent_p.G409G	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	582					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	62361826	62361826	10302	11	C	G	G	30	30	MTA2	G	3	3
PYGM	5837	broad.mit.edu	37	11	64521495	64521495	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64521495C>A	uc001oax.3	-	10	1912	c.1095G>T	c.(1093-1095)GCG>GCT	p.A365A	PYGM_uc001oay.3_Silent_p.A277A	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	365					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Silent	SNP	64521495	64521495	13320	11	C	A	A	19	19	PYGM	A	1	1
POLA2	23649	broad.mit.edu	37	11	65046289	65046289	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65046289G>T	uc001odj.2	+	6	892	c.550G>T	c.(550-552)GGG>TGG	p.G184W	POLA2_uc009yqf.1_Missense_Mutation_p.G184W|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.2_5'Flank	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	184					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)													---	---	---	---	capture		Missense_Mutation	SNP	65046289	65046289	12616	11	G	T	T	47	47	POLA2	T	2	2
POLA2	23649	broad.mit.edu	37	11	65064644	65064644	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65064644G>T	uc001odj.2	+	18	2043	c.1701G>T	c.(1699-1701)GTG>GTT	p.V567V	POLA2_uc001odk.2_Silent_p.V264V	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	DNA-directed DNA polymerase alpha 2	567					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)													---	---	---	---	capture		Silent	SNP	65064644	65064644	12616	11	G	T	T	47	47	POLA2	T	2	2
TIGD3	220359	broad.mit.edu	37	11	65123451	65123451	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65123451G>T	uc001odo.3	+	2	335	c.172G>T	c.(172-174)GAC>TAC	p.D58Y		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	58					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	65123451	65123451	16426	11	G	T	T	41	41	TIGD3	T	2	2
SLC25A45	283130	broad.mit.edu	37	11	65144290	65144290	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65144290G>T	uc001odp.1	-	5	1019	c.597C>A	c.(595-597)CCC>CCA	p.P199P	SLC25A45_uc009yqi.1_Silent_p.P137P|SLC25A45_uc001odq.1_Silent_p.P175P|SLC25A45_uc001odr.1_Silent_p.P199P|SLC25A45_uc001ods.1_Silent_p.P157P|SLC25A45_uc001odt.1_Silent_p.P157P	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	199	Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0																		---	---	---	---	capture		Silent	SNP	65144290	65144290	15007	11	G	T	T	47	47	SLC25A45	T	2	2
EHBP1L1	254102	broad.mit.edu	37	11	65349380	65349380	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65349380G>T	uc001oeo.3	+	9	1502	c.1237G>T	c.(1237-1239)GGG>TGG	p.G413W	EHBP1L1_uc001oep.1_Missense_Mutation_p.G33W	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	413										central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	65349380	65349380	5165	11	G	T	T	47	47	EHBP1L1	T	2	2
RELA	5970	broad.mit.edu	37	11	65422461	65422461	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65422461G>T	uc001ofg.2	-	11	1184	c.1044C>A	c.(1042-1044)CCC>CCA	p.P348P	RELA_uc001ofh.2_Silent_p.P345P|RELA_uc010ron.1_Silent_p.P359P|RELA_uc009yqr.2_Silent_p.P295P|RELA_uc001ofe.2_3'UTR|RELA_uc001off.2_Silent_p.P348P	NM_021975	NP_068810	Q04206	TF65_HUMAN	v-rel reticuloendotheliosis viral oncogene	348					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			lung(3)|ovary(1)	4																		---	---	---	---	capture		Silent	SNP	65422461	65422461	13685	11	G	T	T	35	35	RELA	T	2	2
CTSW	1521	broad.mit.edu	37	11	65650876	65650876	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65650876G>T	uc001ogc.1	+	9	1043	c.1001G>T	c.(1000-1002)GGG>GTG	p.G334V	CTSW_uc001ogb.1_Missense_Mutation_p.G334V	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	334					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	65650876	65650876	4201	11	G	T	T	43	43	CTSW	T	2	2
RIN1	9610	broad.mit.edu	37	11	66102615	66102615	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66102615C>A	uc001ohn.1	-	6	782	c.655G>T	c.(655-657)GGA>TGA	p.G219*	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Nonsense_Mutation_p.G114*|RIN1_uc010rpa.1_Nonsense_Mutation_p.G114*	NM_004292	NP_004283	Q13671	RIN1_HUMAN	ras inhibitor RIN1	219					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			lung(2)|breast(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	66102615	66102615	13848	11	C	A	A	23	23	RIN1	A	5	1
DPP3	10072	broad.mit.edu	37	11	66254093	66254093	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66254093G>T	uc001oig.1	+	4	505	c.443G>T	c.(442-444)GGG>GTG	p.G148V	DPP3_uc001oif.1_Missense_Mutation_p.G148V|DPP3_uc010rpe.1_Missense_Mutation_p.G137V	NM_005700	NP_005691	Q9NY33	DPP3_HUMAN	dipeptidyl peptidase III	148					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	66254093	66254093	4912	11	G	T	T	43	43	DPP3	T	2	2
CTSF	8722	broad.mit.edu	37	11	66333159	66333159	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66333159G>T	uc001oip.2	-	8	1118	c.1028C>A	c.(1027-1029)TCG>TAG	p.S343*		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	cathepsin F precursor	343					proteolysis	lysosome	cysteine-type endopeptidase activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	66333159	66333159	4193	11	G	T	T	37	37	CTSF	T	5	1
SYT12	91683	broad.mit.edu	37	11	66807647	66807647	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66807647G>T	uc009yrl.2	+	4	824	c.594G>T	c.(592-594)CCG>CCT	p.P198P	SYT12_uc001oju.2_Silent_p.P198P	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	198	C2 1.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	66807647	66807647	15989	11	G	T	T	39	39	SYT12	T	1	1
LRP5	4041	broad.mit.edu	37	11	68190986	68190986	+	Silent	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68190986C>G	uc001ont.2	+	14	3132	c.3057C>G	c.(3055-3057)GGC>GGG	p.G1019G	LRP5_uc009ysg.2_Silent_p.G429G	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1019	Beta-propeller 4.|LDL-receptor class B 16.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7																		---	---	---	---	capture		Silent	SNP	68190986	68190986	9333	11	C	G	G	26	26	LRP5	G	3	3
C2CD3	26005	broad.mit.edu	37	11	73834143	73834143	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73834143C>A	uc001ouu.2	-	8	1482	c.1255G>T	c.(1255-1257)GGC>TGC	p.G419C	C2CD3_uc001ouv.2_Missense_Mutation_p.G419C	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	419						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)																	---	---	---	---	capture		Missense_Mutation	SNP	73834143	73834143	2237	11	C	A	A	24	24	C2CD3	A	2	2
ODZ4	26011	broad.mit.edu	37	11	78413354	78413354	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:78413354T>C	uc001ozl.3	-	28	4767	c.4304A>G	c.(4303-4305)AAC>AGC	p.N1435S	ODZ4_uc009yvb.1_Missense_Mutation_p.N19S	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	1435	Extracellular (Potential).|NHL 4.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	78413354	78413354	11242	11	T	C	C	60	60	ODZ4	C	4	4
FAT3	120114	broad.mit.edu	37	11	92085865	92085865	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92085865A>T	uc001pdj.3	+	1	604	c.587A>T	c.(586-588)TAC>TTC	p.Y196F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	196	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---	capture		Missense_Mutation	SNP	92085865	92085865	5927	11	A	T	T	14	14	FAT3	T	4	4
CARD18	59082	broad.mit.edu	37	11	105009762	105009762	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105009762C>A	uc001pis.2	-	1	51	c.45G>T	c.(43-45)GTG>GTT	p.V15V		NM_021571	NP_067546	P57730	CAR18_HUMAN	ICEBERG caspase-1 inhibitor	17	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	105009762	105009762	2768	11	C	A	A	21	21	CARD18	A	2	2
NCAM1	4684	broad.mit.edu	37	11	113078556	113078556	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113078556G>T	uc009yyq.1	+	7	1088	c.394G>T	c.(394-396)GAT>TAT	p.D132Y	NCAM1_uc001pno.2_Missense_Mutation_p.D132Y	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1 isoform 3	250	Ig-like C2-type 3.|Extracellular (Potential).				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				ovary(1)	1		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)														---	---	---	---	capture		Missense_Mutation	SNP	113078556	113078556	10601	11	G	T	T	41	41	NCAM1	T	2	2
BUD13	84811	broad.mit.edu	37	11	116628993	116628993	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116628993C>A	uc001ppn.2	-	7	1525	c.1491G>T	c.(1489-1491)TGG>TGT	p.W497C	BUD13_uc001ppo.2_Missense_Mutation_p.W363C	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	BUD13 homolog isoform 1	497	Potential.									large_intestine(1)|pancreas(1)	2	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)														---	---	---	---	capture		Missense_Mutation	SNP	116628993	116628993	1607	11	C	A	A	22	22	BUD13	A	2	2
OR8B12	219858	broad.mit.edu	37	11	124413497	124413497	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124413497G>C	uc010sam.1	-	1	54	c.54C>G	c.(52-54)CAC>CAG	p.H18Q		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	18	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)														---	---	---	---	capture		Missense_Mutation	SNP	124413497	124413497	11637	11	G	C	C	44	44	OR8B12	C	3	3
PANX3	116337	broad.mit.edu	37	11	124487218	124487218	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124487218G>A	uc001qah.2	+	3	373	c.373G>A	c.(373-375)GTG>ATG	p.V125M		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	pannexin 3	125	Helical; (Potential).				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity				0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)														---	---	---	---	capture		Missense_Mutation	SNP	124487218	124487218	11839	11	G	A	A	44	44	PANX3	A	2	2
ST3GAL4	6484	broad.mit.edu	37	11	126279302	126279302	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126279302A>C	uc001qds.2	+	9	986	c.767A>C	c.(766-768)AAG>ACG	p.K256T	ST3GAL4_uc001qdt.2_Missense_Mutation_p.K252T|ST3GAL4_uc009zcc.2_Missense_Mutation_p.K92T|ST3GAL4_uc009zcd.2_Missense_Mutation_p.K245T|ST3GAL4_uc001qdu.2_Missense_Mutation_p.K252T|ST3GAL4_uc001qdv.2_Missense_Mutation_p.K256T|ST3GAL4_uc009zce.2_Missense_Mutation_p.K252T|ST3GAL4_uc001qdw.2_Missense_Mutation_p.K245T|ST3GAL4_uc001qdx.1_Missense_Mutation_p.K213T|ST3GAL4_uc001qdy.2_Missense_Mutation_p.K92T|ST3GAL4_uc001qdz.2_Missense_Mutation_p.K92T	NM_006278	NP_006269	Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	256	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)														---	---	---	---	capture		Missense_Mutation	SNP	126279302	126279302	15735	11	A	C	C	3	3	ST3GAL4	C	4	4
WNK1	65125	broad.mit.edu	37	12	989894	989894	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:989894C>A	uc001qio.3	+	12	3347	c.2840C>A	c.(2839-2841)CCA>CAA	p.P947Q	WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	947					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---	capture		Missense_Mutation	SNP	989894	989894	17951	12	C	A	A	21	21	WNK1	A	2	2
PARP11	57097	broad.mit.edu	37	12	3921356	3921356	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:3921356T>A	uc001qmk.1	-	7	984	c.929A>T	c.(928-930)AAC>ATC	p.N310I	PARP11_uc001qml.2_Missense_Mutation_p.N317I|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.N236I|PARP11_uc001qmn.2_Missense_Mutation_p.N236I	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	310	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)															---	---	---	---	capture		Missense_Mutation	SNP	3921356	3921356	11873	12	T	A	A	60	60	PARP11	A	4	4
AKAP3	10566	broad.mit.edu	37	12	4737745	4737745	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4737745C>A	uc001qnb.3	-	4	552	c.323G>T	c.(322-324)TGC>TTC	p.C108F		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	108					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	4737745	4737745	455	12	C	A	A	25	25	AKAP3	A	2	2
NOP2	4839	broad.mit.edu	37	12	6675952	6675952	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6675952G>A	uc001qpk.1	-	2	184	c.140C>T	c.(139-141)GCT>GTT	p.A47V	NOP2_uc001qph.1_Missense_Mutation_p.A47V|NOP2_uc001qpi.1_Missense_Mutation_p.A47V|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.A47V|NOP2_uc001qpm.1_Missense_Mutation_p.A47V			P46087	NOP2_HUMAN	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.	47					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	6675952	6675952	10941	12	G	A	A	34	34	NOP2	A	2	2
LEPREL2	10536	broad.mit.edu	37	12	6946197	6946197	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6946197C>A	uc001qra.1	+	12	1541	c.1507C>A	c.(1507-1509)CCT>ACT	p.P503T	LEPREL2_uc001qqz.1_Missense_Mutation_p.P310T|LEPREL2_uc001qrb.1_Missense_Mutation_p.P310T	NM_014262	NP_055077	Q8IVL6	P3H3_HUMAN	leprecan-like 2 precursor	503					negative regulation of cell proliferation	endoplasmic reticulum	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity				0					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---	capture		Missense_Mutation	SNP	6946197	6946197	9055	12	C	A	A	22	22	LEPREL2	A	2	2
SLC2A14	144195	broad.mit.edu	37	12	7984307	7984307	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7984307G>T	uc001qtk.2	-	9	1027	c.234C>A	c.(232-234)CCC>CCA	p.P78P	SLC2A14_uc001qtl.2_Silent_p.P55P|SLC2A14_uc001qtm.2_Silent_p.P55P|SLC2A14_uc010sgg.1_Intron|SLC2A14_uc001qtn.2_Silent_p.P78P|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Silent_p.P93P	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	glucose transporter 14	78	Extracellular (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			ovary(1)	1				Kidney(36;0.0883)												OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	7984307	7984307	15040	12	G	T	T	35	35	SLC2A14	T	2	2
A2ML1	144568	broad.mit.edu	37	12	8995787	8995787	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8995787C>A	uc001quz.3	+	12	1404	c.1306C>A	c.(1306-1308)CAA>AAA	p.Q436K	A2ML1_uc001qva.1_Missense_Mutation_p.Q16K|A2ML1_uc010sgm.1_5'Flank	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	280						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	8995787	8995787	6	12	C	A	A	21	21	A2ML1	A	2	2
TAS2R20	259295	broad.mit.edu	37	12	11149889	11149889	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11149889G>A	uc001qzm.2	-	1	586	c.586C>T	c.(586-588)CTG>TTG	p.L196L	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	196	Helical; Name=5; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity				0																		---	---	---	---	capture		Silent	SNP	11149889	11149889	16093	12	G	A	A	33	33	TAS2R20	A	2	2
ARHGDIB	397	broad.mit.edu	37	12	15095573	15095573	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15095573G>T	uc001rcq.1	-	6	593	c.489C>A	c.(487-489)CCC>CCA	p.P163P	ARHGDIB_uc001rcp.1_RNA	NM_001175	NP_001166	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	163					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity				0																		---	---	---	---	capture		Silent	SNP	15095573	15095573	905	12	G	T	T	47	47	ARHGDIB	T	2	2
SLCO1C1	53919	broad.mit.edu	37	12	20858882	20858882	+	Splice_Site	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:20858882G>A	uc001rej.3	+	5	627	c.272_splice	c.e5-1	p.G91_splice	SLCO1C1_uc010sii.1_Splice_Site_p.G91_splice|SLCO1C1_uc010sij.1_Splice_Site_p.G91_splice|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Splice_Site_p.G91_splice|SLCO1C1_uc010sik.1_Splice_Site	NM_017435	NP_059131			solute carrier organic anion transporter family,						sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)																	---	---	---	---	capture		Splice_Site	SNP	20858882	20858882	15222	12	G	A	A	35	35	SLCO1C1	A	5	2
DENND5B	160518	broad.mit.edu	37	12	31600597	31600597	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31600597C>A	uc001rki.1	-	6	1922	c.1736G>T	c.(1735-1737)TGG>TTG	p.W579L	DENND5B_uc001rkh.1_Missense_Mutation_p.W614L|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Missense_Mutation_p.W601L	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	579						integral to membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	31600597	31600597	4616	12	C	A	A	21	21	DENND5B	A	2	2
C12orf35	55196	broad.mit.edu	37	12	32135211	32135211	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32135211C>T	uc001rks.2	+	4	1736	c.1322C>T	c.(1321-1323)TCT>TTT	p.S441F		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	hypothetical protein LOC55196	441										ovary(1)|skin(1)	2	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)															---	---	---	---	capture		Missense_Mutation	SNP	32135211	32135211	1726	12	C	T	T	32	32	C12orf35	T	2	2
AMIGO2	347902	broad.mit.edu	37	12	47471878	47471878	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:47471878C>A	uc001rpm.2	-	3	1563	c.908G>T	c.(907-909)GGG>GTG	p.G303V	FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.G303V|AMIGO2_uc001rpl.2_Missense_Mutation_p.G303V	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	303	Extracellular (Potential).|Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				ovary(1)|skin(1)	2	Renal(347;0.138)|Lung SC(27;0.192)																	---	---	---	---	capture		Missense_Mutation	SNP	47471878	47471878	579	12	C	A	A	22	22	AMIGO2	A	2	2
MLL2	8085	broad.mit.edu	37	12	49445987	49445987	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49445987G>T	uc001rta.3	-	10	1479	c.1479C>A	c.(1477-1479)CCC>CCA	p.P493P		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	493	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---	capture		Silent	SNP	49445987	49445987	10011	12	G	T	T	43	43	MLL2	T	2	2
PRPH	5630	broad.mit.edu	37	12	49691303	49691303	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49691303T>C	uc001rtu.2	+	6	1235	c.1160T>C	c.(1159-1161)ATG>ACG	p.M387T		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	387	Coil 2.|Rod.						structural molecule activity				0																OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	49691303	49691303	13019	12	T	C	C	51	51	PRPH	C	4	4
SCN8A	6334	broad.mit.edu	37	12	52200493	52200493	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52200493G>T	uc001ryw.2	+	27	5401	c.5223G>T	c.(5221-5223)GTG>GTT	p.V1741V		NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	1741	IV.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)													---	---	---	---	capture		Silent	SNP	52200493	52200493	14406	12	G	T	T	47	47	SCN8A	T	2	2
RDH16	8608	broad.mit.edu	37	12	57348829	57348829	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57348829T>A	uc001smi.3	-	2	605	c.433A>T	c.(433-435)ACT>TCT	p.T145S	RDH16_uc009zpa.2_Intron	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	145	Cytoplasmic (Potential).				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	57348829	57348829	13663	12	T	A	A	58	58	RDH16	A	4	4
KIF5A	3798	broad.mit.edu	37	12	57974946	57974946	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57974946G>T	uc001sor.1	+	24	2954	c.2746G>T	c.(2746-2748)GCC>TCC	p.A916S	KIF5A_uc010srr.1_Missense_Mutation_p.A827S	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	916	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	57974946	57974946	8616	12	G	T	T	46	46	KIF5A	T	2	2
WIF1	11197	broad.mit.edu	37	12	65471558	65471558	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:65471558G>T	uc001ssk.2	-	3	510	c.365C>A	c.(364-366)CCT>CAT	p.P122H		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1 precursor	122	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			ovary(2)|lung(1)|skin(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)				T	HMGA2	pleomorphic salivary gland adenoma								---	---	---	---	capture		Missense_Mutation	SNP	65471558	65471558	17940	12	G	T	T	35	35	WIF1	T	2	2
ZFC3H1	196441	broad.mit.edu	37	12	72029243	72029243	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72029243C>T	uc001swo.2	-	10	2577	c.2218G>A	c.(2218-2220)GAA>AAA	p.E740K		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	740					RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	72029243	72029243	18221	12	C	T	T	32	32	ZFC3H1	T	2	2
TMEM19	55266	broad.mit.edu	37	12	72092834	72092834	+	Silent	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72092834T>C	uc001sws.2	+	5	1375	c.792T>C	c.(790-792)GCT>GCC	p.A264A	TMEM19_uc001swr.1_Silent_p.A250A|TMEM19_uc009zru.1_RNA	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	transmembrane protein 19	264	Helical; (Potential).					integral to membrane					0		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)														---	---	---	---	capture		Silent	SNP	72092834	72092834	16647	12	T	C	C	55	55	TMEM19	C	4	4
ACACB	32	broad.mit.edu	37	12	109685437	109685437	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109685437C>A	uc001tob.2	+	40	5717	c.5598C>A	c.(5596-5598)CCC>CCA	p.P1866P	ACACB_uc001toc.2_Silent_p.P1866P|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.P532P	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1866	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)													---	---	---	---	capture		Silent	SNP	109685437	109685437	108	12	C	A	A	22	22	ACACB	A	2	2
TRAFD1	10906	broad.mit.edu	37	12	112589916	112589916	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112589916C>A	uc001ttp.2	+	10	1677	c.1591C>A	c.(1591-1593)CCT>ACT	p.P531T	TRAFD1_uc001tto.2_Missense_Mutation_p.P531T	NM_006700	NP_006691	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	531					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	112589916	112589916	16991	12	C	A	A	22	22	TRAFD1	A	2	2
OAS1	4938	broad.mit.edu	37	12	113346549	113346549	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113346549G>T	uc001tud.2	+	2	495	c.389G>T	c.(388-390)CGT>CTT	p.R130L	OAS1_uc010syn.1_Missense_Mutation_p.R129L|OAS1_uc010syo.1_Missense_Mutation_p.R129L|OAS1_uc001tub.2_Missense_Mutation_p.R130L|OAS1_uc001tuc.2_Missense_Mutation_p.R130L|OAS1_uc009zwf.2_Missense_Mutation_p.R129L	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	130	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	113346549	113346549	11204	12	G	T	T	40	40	OAS1	T	1	1
OASL	8638	broad.mit.edu	37	12	121471503	121471503	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121471503T>G	uc001tzj.1	-	2	248	c.242A>C	c.(241-243)GAG>GCG	p.E81A	OASL_uc001tzk.1_Missense_Mutation_p.E81A	NM_003733	NP_003724	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like isoform a	81					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			skin(1)	1	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---	capture		Missense_Mutation	SNP	121471503	121471503	11207	12	T	G	G	54	54	OASL	G	4	4
HPD	3242	broad.mit.edu	37	12	122292658	122292658	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122292658C>A	uc001ubj.2	-	7	405	c.365G>T	c.(364-366)TGG>TTG	p.W122L	HPD_uc001ubk.2_Missense_Mutation_p.W83L	NM_002150	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	122					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)													---	---	---	---	capture		Missense_Mutation	SNP	122292658	122292658	7624	12	C	A	A	21	21	HPD	A	2	2
SBNO1	55206	broad.mit.edu	37	12	123818603	123818603	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123818603G>T	uc010tap.1	-	6	906	c.906C>A	c.(904-906)GCC>GCA	p.A302A	SBNO1_uc010tao.1_Silent_p.A301A|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Silent_p.A302A|SBNO1_uc001ueu.2_Silent_p.A301A|SBNO1_uc001uev.2_Silent_p.A300A|SBNO1_uc009zxy.1_Silent_p.A267A	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN	sno, strawberry notch homolog 1	302							ATP binding|DNA binding|hydrolase activity			breast(5)|skin(2)|ovary(1)|kidney(1)	9	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)														---	---	---	---	capture		Silent	SNP	123818603	123818603	14343	12	G	T	T	43	43	SBNO1	T	2	2
SFRS8	6433	broad.mit.edu	37	12	132262629	132262629	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132262629G>T	uc001uja.1	+	14	2302	c.2162G>T	c.(2161-2163)TGC>TTC	p.C721F	SFRS8_uc010tbn.1_Missense_Mutation_p.C721F|SFRS8_uc001ujb.1_Missense_Mutation_p.C514F	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	721					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)														---	---	---	---	capture		Missense_Mutation	SNP	132262629	132262629	14673	12	G	T	T	46	46	SFRS8	T	2	2
POLE	5426	broad.mit.edu	37	12	133209281	133209281	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133209281C>A	uc001uks.1	-	44	6149	c.6105G>T	c.(6103-6105)CAG>CAT	p.Q2035H	POLE_uc001ukq.1_Missense_Mutation_p.Q245H|POLE_uc001ukr.1_Missense_Mutation_p.Q839H|POLE_uc010tbq.1_RNA	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	2035					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---	capture		Missense_Mutation	SNP	133209281	133209281	12624	12	C	A	A	24	24	POLE	A	2	2
IFT88	8100	broad.mit.edu	37	13	21172829	21172829	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21172829A>G	uc001unh.2	+	12	1057	c.661A>G	c.(661-663)ATG>GTG	p.M221V	IFT88_uc001uni.2_Missense_Mutation_p.M212V|IFT88_uc001unj.2_Missense_Mutation_p.M211V|IFT88_uc010tcq.1_Missense_Mutation_p.M192V|IFT88_uc001unk.2_Missense_Mutation_p.M1V	NM_175605	NP_783195	Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog isoform 1	221	TPR 1.				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)														---	---	---	---	capture		Missense_Mutation	SNP	21172829	21172829	7867	13	A	G	G	4	4	IFT88	G	4	4
SACS	26278	broad.mit.edu	37	13	23909099	23909099	+	Silent	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:23909099T>A	uc001uon.2	-	10	9505	c.8916A>T	c.(8914-8916)CCA>CCT	p.P2972P	SACS_uc001uoo.2_Silent_p.P2825P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	2972					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)														---	---	---	---	capture		Silent	SNP	23909099	23909099	14284	13	T	A	A	55	55	SACS	A	4	4
C1QTNF9	338872	broad.mit.edu	37	13	24895767	24895767	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:24895767C>G	uc001upj.2	+	4	924	c.863C>G	c.(862-864)TCT>TGT	p.S288C	C1QTNF9_uc001upe.2_RNA	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	288	C1q.					collagen	hormone activity				0		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)														---	---	---	---	capture		Missense_Mutation	SNP	24895767	24895767	2037	13	C	G	G	32	32	C1QTNF9	G	3	3
SLC7A1	6541	broad.mit.edu	37	13	30096468	30096468	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:30096468G>T	uc001uso.2	-	8	1562	c.1175C>A	c.(1174-1176)TCG>TAG	p.S392*		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	392	Helical; (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---	capture		Nonsense_Mutation	SNP	30096468	30096468	15189	13	G	T	T	37	37	SLC7A1	T	5	1
SLC7A1	6541	broad.mit.edu	37	13	30096527	30096527	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:30096527A>C	uc001uso.2	-	8	1503	c.1116T>G	c.(1114-1116)TTT>TTG	p.F372L		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	372	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)													---	---	---	---	capture		Missense_Mutation	SNP	30096527	30096527	15189	13	A	C	C	13	13	SLC7A1	C	4	4
SPERT	220082	broad.mit.edu	37	13	46287605	46287605	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:46287605C>A	uc001van.1	+	3	525	c.445C>A	c.(445-447)CCA>ACA	p.P149T	SPERT_uc001vao.2_Missense_Mutation_p.P113T	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	149						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)														---	---	---	---	capture		Missense_Mutation	SNP	46287605	46287605	15551	13	C	A	A	22	22	SPERT	A	2	2
TBC1D4	9882	broad.mit.edu	37	13	75936395	75936395	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:75936395C>A	uc001vjl.1	-	2	1194	c.847G>T	c.(847-849)GGG>TGG	p.G283W	TBC1D4_uc010aer.2_Missense_Mutation_p.G283W|TBC1D4_uc010aes.2_Missense_Mutation_p.G283W	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	283						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)														---	---	---	---	capture		Missense_Mutation	SNP	75936395	75936395	16148	13	C	A	A	23	23	TBC1D4	A	1	1
COL4A2	1284	broad.mit.edu	37	13	111111228	111111228	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111111228G>A	uc001vqx.2	+	22	1832	c.1543G>A	c.(1543-1545)GGG>AGG	p.G515R		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	515	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)															---	---	---	---	capture		Missense_Mutation	SNP	111111228	111111228	3828	13	G	A	A	35	35	COL4A2	A	2	2
OR4N2	390429	broad.mit.edu	37	14	20296014	20296014	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20296014T>A	uc010tkv.1	+	1	407	c.407T>A	c.(406-408)ATG>AAG	p.M136K		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Missense_Mutation	SNP	20296014	20296014	11487	14	T	A	A	51	51	OR4N2	A	4	4
EFS	10278	broad.mit.edu	37	14	23828827	23828827	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23828827C>A	uc001wjo.2	-	4	1468	c.860G>T	c.(859-861)AGC>ATC	p.S287I	EFS_uc001wjp.2_Missense_Mutation_p.S194I|EFS_uc010tnm.1_Missense_Mutation_p.S118I	NM_005864	NP_005855	O43281	EFS_HUMAN	embryonal Fyn-associated substrate isoform 1	287	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			large_intestine(1)	1	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)														---	---	---	---	capture		Missense_Mutation	SNP	23828827	23828827	5148	14	C	A	A	28	28	EFS	A	2	2
SCFD1	23256	broad.mit.edu	37	14	31203995	31203995	+	Splice_Site	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31203995G>T	uc001wqm.1	+	24	1861	c.1837_splice	c.e24-1	p.G613_splice	SCFD1_uc001wqn.1_Splice_Site_p.G546_splice|SCFD1_uc010tpg.1_Splice_Site_p.G554_splice|SCFD1_uc010tph.1_Splice_Site_p.G428_splice|SCFD1_uc010amf.1_Splice_Site_p.G428_splice|SCFD1_uc010tpi.1_Splice_Site_p.G521_splice	NM_016106	NP_057190			vesicle transport-related protein isoform a						post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---	capture		Splice_Site	SNP	31203995	31203995	14370	14	G	T	T	35	35	SCFD1	T	5	2
AKAP6	9472	broad.mit.edu	37	14	33291678	33291678	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33291678G>C	uc001wrq.2	+	13	4829	c.4659G>C	c.(4657-4659)ATG>ATC	p.M1553I		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	1553					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---	capture		Missense_Mutation	SNP	33291678	33291678	458	14	G	C	C	46	46	AKAP6	C	3	3
EAPP	55837	broad.mit.edu	37	14	35002668	35002668	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35002668C>A	uc001wsd.1	-	3	443	c.334G>T	c.(334-336)GAG>TAG	p.E112*		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	112					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				ovary(1)	1	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)														---	---	---	---	capture		Nonsense_Mutation	SNP	35002668	35002668	5063	14	C	A	A	31	31	EAPP	A	5	1
BAZ1A	11177	broad.mit.edu	37	14	35240766	35240766	+	Silent	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35240766G>C	uc001wsk.2	-	21	3820	c.3252C>G	c.(3250-3252)CTC>CTG	p.L1084L	BAZ1A_uc001wsl.2_Silent_p.L1052L	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1084					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)														---	---	---	---	capture		Silent	SNP	35240766	35240766	1350	14	G	C	C	33	33	BAZ1A	C	3	3
MGAT2	4247	broad.mit.edu	37	14	50088859	50088859	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50088859G>T	uc001wwr.2	+	1	1371	c.873G>T	c.(871-873)CTG>CTT	p.L291L	SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein	291	Lumenal (Potential).				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity				0	all_epithelial(31;0.0021)|Breast(41;0.0124)																	---	---	---	---	capture		Silent	SNP	50088859	50088859	9933	14	G	T	T	47	47	MGAT2	T	2	2
DLGAP5	9787	broad.mit.edu	37	14	55621479	55621479	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:55621479G>T	uc001xbs.2	-	15	2136	c.1919C>A	c.(1918-1920)CCT>CAT	p.P640H	DLGAP5_uc001xbt.2_Missense_Mutation_p.P640H	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	discs large homolog 7 isoform a	640					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	55621479	55621479	4743	14	G	T	T	35	35	DLGAP5	T	2	2
ZBTB1	22890	broad.mit.edu	37	14	64989724	64989724	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64989724G>C	uc001xhh.3	+	4	1933	c.1502G>C	c.(1501-1503)AGA>ACA	p.R501T	ZBTB1_uc010aqg.2_Missense_Mutation_p.R501T|ZBTB1_uc001xhi.2_Missense_Mutation_p.R501T	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1 isoform	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)														---	---	---	---	capture		Missense_Mutation	SNP	64989724	64989724	18108	14	G	C	C	33	33	ZBTB1	C	3	3
FAM71D	161142	broad.mit.edu	37	14	67664902	67664902	+	Silent	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67664902T>C	uc001xja.1	+	3	278	c.24T>C	c.(22-24)ACT>ACC	p.T8T	FAM71D_uc010tsv.1_RNA|FAM71D_uc001xiz.2_RNA|FAM71D_uc010aqn.1_RNA	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	hypothetical protein LOC161142	8										ovary(1)	1		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)														---	---	---	---	capture		Silent	SNP	67664902	67664902	5833	14	T	C	C	53	53	FAM71D	C	4	4
RDH11	51109	broad.mit.edu	37	14	68151842	68151842	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68151842C>T	uc001xjv.3	-	6	834	c.744G>A	c.(742-744)TGG>TGA	p.W248*	RDH11_uc001xjw.3_Nonsense_Mutation_p.W235*|RDH11_uc001xjx.3_Nonsense_Mutation_p.W178*	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11	248	Cytoplasmic (Potential).				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(1)	1				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)													---	---	---	---	capture		Nonsense_Mutation	SNP	68151842	68151842	13659	14	C	T	T	30	30	RDH11	T	5	2
NRXN3	9369	broad.mit.edu	37	14	79181203	79181203	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:79181203C>A	uc001xun.2	+	5	1137	c.646C>A	c.(646-648)CGT>AGT	p.R216S	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R350S	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	589	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)														---	---	---	---	capture		Missense_Mutation	SNP	79181203	79181203	11072	14	C	A	A	23	23	NRXN3	A	1	1
FLRT2	23768	broad.mit.edu	37	14	86089506	86089506	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86089506G>T	uc001xvr.2	+	2	2415	c.1648G>T	c.(1648-1650)GCG>TCG	p.A550S	FLRT2_uc010atd.2_Missense_Mutation_p.A550S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	550	Helical; (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---	capture		Missense_Mutation	SNP	86089506	86089506	6181	14	G	T	T	38	38	FLRT2	T	1	1
TRIP11	9321	broad.mit.edu	37	14	92439105	92439105	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92439105G>T	uc001xzy.2	-	20	6463	c.5675C>A	c.(5674-5676)CCA>CAA	p.P1892Q	TRIP11_uc010auf.1_Missense_Mutation_p.P1628Q	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1892					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13				COAD - Colon adenocarcinoma(157;0.223)				T	PDGFRB	AML								---	---	---	---	capture		Missense_Mutation	SNP	92439105	92439105	17105	14	G	T	T	47	47	TRIP11	T	2	2
FAM181A	90050	broad.mit.edu	37	14	94395040	94395040	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94395040G>A	uc001ybz.1	+	3	902	c.595G>A	c.(595-597)GCT>ACT	p.A199T	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Missense_Mutation_p.A137T|FAM181A_uc001yca.1_Missense_Mutation_p.A137T	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	199											0																		---	---	---	---	capture		Missense_Mutation	SNP	94395040	94395040	5715	14	G	A	A	38	38	FAM181A	A	1	1
SERPINA3	12	broad.mit.edu	37	14	95080920	95080920	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95080920G>T	uc001ydp.2	+	2	221	c.142G>T	c.(142-144)GGA>TGA	p.G48*	SERPINA3_uc001ydo.3_Nonsense_Mutation_p.G73*|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Nonsense_Mutation_p.G48*|SERPINA3_uc001yds.2_Nonsense_Mutation_p.G48*|SERPINA3_uc010avg.2_Nonsense_Mutation_p.G48*	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	48					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)														---	---	---	---	capture		Nonsense_Mutation	SNP	95080920	95080920	14578	14	G	T	T	39	39	SERPINA3	T	5	1
CYP46A1	10858	broad.mit.edu	37	14	100157448	100157448	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100157448G>A	uc001ygo.2	+	2	150	c.150G>A	c.(148-150)TGG>TGA	p.W50*	CYP46A1_uc001ygn.1_5'UTR	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	50					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)																---	---	---	---	capture		Nonsense_Mutation	SNP	100157448	100157448	4347	14	G	A	A	41	41	CYP46A1	A	5	2
DYNC1H1	1778	broad.mit.edu	37	14	102489101	102489101	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102489101G>T	uc001yks.2	+	43	8685	c.8521G>T	c.(8521-8523)GAG>TAG	p.E2841*	DYNC1H1_uc001ykt.1_Nonsense_Mutation_p.E332*	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2841					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---	capture		Nonsense_Mutation	SNP	102489101	102489101	5027	14	G	T	T	45	45	DYNC1H1	T	5	2
CKB	1152	broad.mit.edu	37	14	103986829	103986829	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103986829G>T	uc001ynf.1	-	6	834	c.754C>A	c.(754-756)CGC>AGC	p.R252S	CKB_uc001yne.1_Missense_Mutation_p.R74S|CKB_uc010awr.1_Missense_Mutation_p.R183S	NM_001823	NP_001814	P12277	KCRB_HUMAN	brain creatine kinase	252	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity				0		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)													---	---	---	---	capture		Missense_Mutation	SNP	103986829	103986829	3582	14	G	T	T	39	39	CKB	T	1	1
AHNAK2	113146	broad.mit.edu	37	14	105414569	105414569	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105414569G>A	uc010axc.1	-	7	7339	c.7219C>T	c.(7219-7221)CCC>TCC	p.P2407S	AHNAK2_uc001ypx.2_Missense_Mutation_p.P2307S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2407						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---	capture		Missense_Mutation	SNP	105414569	105414569	418	14	G	A	A	42	42	AHNAK2	A	2	2
AHNAK2	113146	broad.mit.edu	37	14	105418571	105418571	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105418571C>A	uc010axc.1	-	7	3337	c.3217G>T	c.(3217-3219)GAG>TAG	p.E1073*	AHNAK2_uc001ypx.2_Nonsense_Mutation_p.E973*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1073						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---	capture		Nonsense_Mutation	SNP	105418571	105418571	418	14	C	A	A	31	31	AHNAK2	A	5	1
OR4N4	283694	broad.mit.edu	37	15	22382947	22382947	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22382947C>A	uc001yuc.1	+	7	1456	c.475C>A	c.(475-477)CAG>AAG	p.Q159K	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.Q159K	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	159	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)														---	---	---	---	capture		Missense_Mutation	SNP	22382947	22382947	11488	15	C	A	A	21	21	OR4N4	A	2	2
MAGEL2	54551	broad.mit.edu	37	15	23889861	23889861	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23889861G>T	uc001ywj.3	-	1	1315	c.1220C>A	c.(1219-1221)TCC>TAC	p.S407Y		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)														---	---	---	---	capture		Missense_Mutation	SNP	23889861	23889861	9572	15	G	T	T	41	41	MAGEL2	T	2	2
GABRB3	2562	broad.mit.edu	37	15	26806138	26806138	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:26806138T>C	uc001zaz.2	-	8	1163	c.1021A>G	c.(1021-1023)AAG>GAG	p.K341E	GABRB3_uc010uae.1_Missense_Mutation_p.K256E|GABRB3_uc001zba.2_Missense_Mutation_p.K341E|GABRB3_uc001zbb.2_Missense_Mutation_p.K397E	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	341	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)													---	---	---	---	capture		Missense_Mutation	SNP	26806138	26806138	6419	15	T	C	C	62	62	GABRB3	C	4	4
RASGRP1	10125	broad.mit.edu	37	15	38791065	38791065	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:38791065G>T	uc001zke.3	-	15	1981	c.1803C>A	c.(1801-1803)CCC>CCA	p.P601P	RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Silent_p.P428P|RASGRP1_uc010bbg.2_Intron|RASGRP1_uc001zkd.3_Silent_p.P566P	NM_005739	NP_005730	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 isoform a	601					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			large_intestine(1)|ovary(1)	2		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)														---	---	---	---	capture		Silent	SNP	38791065	38791065	13535	15	G	T	T	47	47	RASGRP1	T	2	2
RTF1	23168	broad.mit.edu	37	15	41769381	41769381	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41769381G>T	uc001zny.2	+	13	1591	c.1579G>T	c.(1579-1581)GGG>TGG	p.G527W		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	527	Potential.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)														---	---	---	---	capture		Missense_Mutation	SNP	41769381	41769381	14201	15	G	T	T	43	43	RTF1	T	2	2
FRMD5	84978	broad.mit.edu	37	15	44216416	44216416	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44216416G>T	uc001ztl.2	-	2	371	c.194C>A	c.(193-195)CCA>CAA	p.P65Q	FRMD5_uc001ztk.1_5'UTR|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_5'UTR	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	65	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)														---	---	---	---	capture		Missense_Mutation	SNP	44216416	44216416	6303	15	G	T	T	47	47	FRMD5	T	2	2
CASC4	113201	broad.mit.edu	37	15	44695177	44695177	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44695177T>A	uc001zto.1	+	9	1464	c.1165T>A	c.(1165-1167)TAT>AAT	p.Y389N	CASC4_uc001ztp.2_Missense_Mutation_p.Y389N|CASC4_uc001ztq.2_Intron	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4 isoform a	389	Lumenal (Potential).					integral to membrane				ovary(1)	1		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)														---	---	---	---	capture		Missense_Mutation	SNP	44695177	44695177	2781	15	T	A	A	57	57	CASC4	A	4	4
FBN1	2200	broad.mit.edu	37	15	48779573	48779573	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48779573C>A	uc001zwx.1	-	28	3727	c.3399G>T	c.(3397-3399)GAG>GAT	p.E1133D		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1133	EGF-like 17; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)														---	---	---	---	capture		Missense_Mutation	SNP	48779573	48779573	5938	15	C	A	A	24	24	FBN1	A	2	2
GLDN	342035	broad.mit.edu	37	15	51696617	51696617	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51696617G>T	uc002aba.2	+	10	1491	c.1322G>T	c.(1321-1323)AGT>ATT	p.S441I	GLDN_uc002abb.2_Missense_Mutation_p.S317I	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	gliomedin	441	Extracellular (Potential).|Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				ovary(2)	2				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)														---	---	---	---	capture		Missense_Mutation	SNP	51696617	51696617	6702	15	G	T	T	36	36	GLDN	T	2	2
ONECUT1	3175	broad.mit.edu	37	15	53081656	53081656	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:53081656C>A	uc002aci.1	-	1	554	c.426G>T	c.(424-426)GCG>GCT	p.A142A		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	142					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding				0				all cancers(107;0.0708)														---	---	---	---	capture		Silent	SNP	53081656	53081656	11273	15	C	A	A	23	23	ONECUT1	A	1	1
GCNT3	9245	broad.mit.edu	37	15	59910702	59910702	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59910702C>A	uc002age.2	+	3	714	c.265C>A	c.(265-267)CTG>ATG	p.L89M	GCNT3_uc002agd.2_Missense_Mutation_p.L89M	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	89	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	59910702	59910702	6568	15	C	A	A	24	24	GCNT3	A	2	2
KIAA0101	9768	broad.mit.edu	37	15	64669065	64669065	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64669065C>G	uc002ank.2	-	3	299	c.167G>C	c.(166-168)CGC>CCC	p.R56P	KIAA0101_uc002anl.2_Intron	NM_014736	NP_055551	Q15004	PAF_HUMAN	hypothetical protein LOC9768 isoform 1	56						mitochondrion|nucleus				central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	64669065	64669065	8462	15	C	G	G	27	27	KIAA0101	G	3	3
HEXA	3073	broad.mit.edu	37	15	72668061	72668061	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72668061C>T	uc002aun.3	-	1	460	c.253G>A	c.(253-255)GGG>AGG	p.G85R	CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Missense_Mutation_p.G85S|HEXA_uc002auo.3_5'UTR|HEXA_uc010bix.2_Missense_Mutation_p.G85R|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|HEXA_uc010biz.1_RNA|C15orf34_uc010ukp.1_5'Flank	NM_000520	NP_000511	P06865	HEXA_HUMAN	hexosaminidase A preproprotein	85					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			ovary(3)|upper_aerodigestive_tract(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	72668061	72668061	7356	15	C	T	T	24	24	HEXA	T	2	2
CYP1A1	1543	broad.mit.edu	37	15	75014644	75014644	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75014644C>T	uc002ayp.3	-	2	917	c.795G>A	c.(793-795)ATG>ATA	p.M265I	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.M1I|CYP1A1_uc010bjx.2_Missense_Mutation_p.M1I|CYP1A1_uc002ayq.3_Missense_Mutation_p.M265I|CYP1A1_uc010bjy.2_Missense_Mutation_p.M265I|CYP1A1_uc010bjz.1_Missense_Mutation_p.M1I	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	265					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			ovary(2)|breast(2)|pancreas(1)	5					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)									Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia				---	---	---	---	capture		Missense_Mutation	SNP	75014644	75014644	4314	15	C	T	T	21	21	CYP1A1	T	2	2
KIAA1024	23251	broad.mit.edu	37	15	79749653	79749653	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79749653C>A	uc002bew.1	+	2	1239	c.1164C>A	c.(1162-1164)CCC>CCA	p.P388P	KIAA1024_uc010unk.1_Silent_p.P388P	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	388						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---	capture		Silent	SNP	79749653	79749653	8512	15	C	A	A	24	24	KIAA1024	A	2	2
ARNT2	9915	broad.mit.edu	37	15	80806299	80806299	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:80806299C>G	uc002bfr.2	+	7	939	c.773C>G	c.(772-774)ACC>AGC	p.T258S	ARNT2_uc010unm.1_Missense_Mutation_p.T247S|ARNT2_uc002bfs.2_Missense_Mutation_p.T247S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	258					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	80806299	80806299	984	15	C	G	G	18	18	ARNT2	G	3	3
IL16	3603	broad.mit.edu	37	15	81591933	81591933	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81591933G>T	uc002bgh.3	+	14	2642	c.2266G>T	c.(2266-2268)GGG>TGG	p.G756W	IL16_uc010blq.1_Missense_Mutation_p.G710W|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.G798W|IL16_uc002bgg.2_Missense_Mutation_p.G756W|IL16_uc002bgi.1_Missense_Mutation_p.G146W|IL16_uc002bgj.2_Missense_Mutation_p.G250W|IL16_uc002bgk.2_Missense_Mutation_p.G55W|IL16_uc002bgl.1_Missense_Mutation_p.G55W|IL16_uc010unq.1_Missense_Mutation_p.G55W	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	756					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	81591933	81591933	7934	15	G	T	T	47	47	IL16	T	2	2
IDH2	3418	broad.mit.edu	37	15	90630347	90630347	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90630347G>T	uc002box.2	-	7	1050	c.964C>A	c.(964-966)CAG>AAG	p.Q322K	IDH2_uc010uqb.1_Missense_Mutation_p.Q270K|IDH2_uc010uqc.1_Missense_Mutation_p.Q192K|IDH2_uc010bnu.2_Missense_Mutation_p.Q213K	NM_002168	NP_002159	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+),	322					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			haematopoietic_and_lymphoid_tissue(621)|central_nervous_system(80)|bone(7)|skin(3)	711	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)					M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	90630347	90630347	7795	15	G	T	T	47	47	IDH2	T	2	2
ZNF774	342132	broad.mit.edu	37	15	90904301	90904301	+	Missense_Mutation	SNP	A	G	G	rs141917260		TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90904301A>G	uc002bpk.3	+	4	1424	c.1238A>G	c.(1237-1239)AAT>AGT	p.N413S		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	413	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)															---	---	---	---	capture		Missense_Mutation	SNP	90904301	90904301	18745	15	A	G	G	4	4	ZNF774	G	4	4
PRC1	9055	broad.mit.edu	37	15	91527314	91527314	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91527314T>G	uc002bqm.2	-	3	358	c.201A>C	c.(199-201)AAA>AAC	p.K67N	PRC1_uc002bqn.2_Missense_Mutation_p.K67N|PRC1_uc002bqo.2_Missense_Mutation_p.K67N|PRC1_uc010uqs.1_Intron|PRC1_uc010uqt.1_Missense_Mutation_p.K15N	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	67	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)																	---	---	---	---	capture		Missense_Mutation	SNP	91527314	91527314	12888	15	T	G	G	64	64	PRC1	G	4	4
OR4F15	390649	broad.mit.edu	37	15	102358526	102358526	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:102358526T>A	uc010uts.1	+	1	137	c.137T>A	c.(136-138)GTA>GAA	p.V46E		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)															---	---	---	---	capture		Missense_Mutation	SNP	102358526	102358526	11468	15	T	A	A	57	57	OR4F15	A	4	4
ZNF434	54925	broad.mit.edu	37	16	3434632	3434632	+	Missense_Mutation	SNP	G	T	T	rs149193108	byFrequency;by1000genomes	TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3434632G>T	uc002cuz.2	-	5	1227	c.425C>A	c.(424-426)CCT>CAT	p.P142H	ZNF434_uc002cux.3_Missense_Mutation_p.P353H|ZNF434_uc010uwx.1_Missense_Mutation_p.P65H|ZNF434_uc002cuy.3_Missense_Mutation_p.P65H|ZNF434_uc010uwy.1_Missense_Mutation_p.P65H|ZNF434_uc010uwz.1_Missense_Mutation_p.P353H|ZNF434_uc010uxa.1_Missense_Mutation_p.P142H	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	zinc finger protein 434	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	3434632	3434632	18501	16	G	T	T	35	35	ZNF434	T	2	2
CIITA	4261	broad.mit.edu	37	16	11009505	11009505	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11009505G>T	uc002dai.3	+	14	3100	c.2967G>T	c.(2965-2967)CTG>CTT	p.L989L	CIITA_uc002daj.3_Silent_p.L990L|CIITA_uc002dak.3_Silent_p.L405L	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	989	LRR 1.		Missing (in BLS2).		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1								T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|								---	---	---	---	capture		Silent	SNP	11009505	11009505	3562	16	G	T	T	47	47	CIITA	T	2	2
GSPT1	2935	broad.mit.edu	37	16	11979113	11979113	+	Silent	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11979113T>C	uc002dbr.2	-	8	885	c.858A>G	c.(856-858)CCA>CCG	p.P286P	GSPT1_uc002dbu.2_Silent_p.P423P|GSPT1_uc002dbt.2_Silent_p.P424P|GSPT1_uc010bux.2_Silent_p.P286P	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	G1 to S phase transition 1 isoform 3	286					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	11979113	11979113	7106	16	T	C	C	51	51	GSPT1	C	4	4
ERCC4	2072	broad.mit.edu	37	16	14029587	14029587	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14029587G>T	uc002dce.2	+	8	1807	c.1798G>T	c.(1798-1800)GGG>TGG	p.G600W	ERCC4_uc010uyz.1_Missense_Mutation_p.G150W	NM_005236	NP_005227	Q92889	XPF_HUMAN	excision repair cross-complementing rodent	600					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			lung(4)|ovary(3)|skin(2)|pancreas(1)	10								Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---	capture		Missense_Mutation	SNP	14029587	14029587	5408	16	G	T	T	47	47	ERCC4	T	2	2
SEZ6L2	26470	broad.mit.edu	37	16	29909221	29909221	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29909221A>G	uc002duq.3	-	2	404	c.164T>C	c.(163-165)CTT>CCT	p.L55P	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.L55P|SEZ6L2_uc002dur.3_Missense_Mutation_p.L55P|SEZ6L2_uc002dus.3_Missense_Mutation_p.L55P|SEZ6L2_uc010vec.1_Missense_Mutation_p.L55P|SEZ6L2_uc010ved.1_Intron|ASPHD1_uc002dut.2_5'Flank|ASPHD1_uc002duu.3_5'Flank|ASPHD1_uc010bzi.2_5'Flank	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2 isoform	55	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	29909221	29909221	14633	16	A	G	G	3	3	SEZ6L2	G	4	4
CCDC102A	92922	broad.mit.edu	37	16	57555030	57555030	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57555030T>G	uc002elw.2	-	4	1084	c.871A>C	c.(871-873)AAG>CAG	p.K291Q		NM_033212	NP_149989	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	291	Potential.									ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	57555030	57555030	2856	16	T	G	G	62	62	CCDC102A	G	4	4
CNGB1	1258	broad.mit.edu	37	16	57951217	57951217	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57951217G>T	uc002emt.2	-	21	2186	c.2121C>A	c.(2119-2121)ACC>ACA	p.T707T	CNGB1_uc010cdh.2_Silent_p.T701T	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	707	Helical; Name=H2; (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4																		---	---	---	---	capture		Silent	SNP	57951217	57951217	3738	16	G	T	T	39	39	CNGB1	T	1	1
CES2	8824	broad.mit.edu	37	16	66977823	66977823	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66977823G>T	uc002eqr.2	+	12	2767	c.1767G>T	c.(1765-1767)GCG>GCT	p.A589A	CES2_uc002eqq.2_Silent_p.A573A|CES2_uc002eqs.2_Silent_p.A432A	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	525					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)														---	---	---	---	capture		Silent	SNP	66977823	66977823	3403	16	G	T	T	39	39	CES2	T	1	1
FHOD1	29109	broad.mit.edu	37	16	67266079	67266079	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67266079G>T	uc002esl.2	-	14	2177	c.2065C>A	c.(2065-2067)CGG>AGG	p.R689R	FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Silent_p.R496R	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	689	Interaction with ROCK1.|FH2.			R -> Q (in Ref. 3; AAO38757).	actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(2)|ovary(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)														---	---	---	---	capture		Silent	SNP	67266079	67266079	6120	16	G	T	T	39	39	FHOD1	T	1	1
C16orf86	388284	broad.mit.edu	37	16	67701253	67701253	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67701253C>A	uc002ety.2	+	2	314	c.157C>A	c.(157-159)CAG>AAG	p.Q53K	C16orf48_uc002etv.1_5'Flank|C16orf48_uc002etw.1_5'Flank|C16orf48_uc010cem.1_5'Flank|C16orf86_uc002etx.1_5'UTR|C16orf86_uc002etz.2_RNA	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN	hypothetical protein LOC388284	53											0		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)														---	---	---	---	capture		Missense_Mutation	SNP	67701253	67701253	1892	16	C	A	A	21	21	C16orf86	A	2	2
TMCO7	79613	broad.mit.edu	37	16	68894080	68894080	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68894080C>T	uc002ewi.3	+	2	400	c.388C>T	c.(388-390)CCT>TCT	p.P130S	TMCO7_uc002ewh.2_Missense_Mutation_p.P130S	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	130						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)														---	---	---	---	capture		Missense_Mutation	SNP	68894080	68894080	16531	16	C	T	T	30	30	TMCO7	T	2	2
METT10D	79066	broad.mit.edu	37	17	2381044	2381044	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2381044C>A	uc002fut.2	-	3	412	c.264G>T	c.(262-264)TGG>TGT	p.W88C	METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Missense_Mutation_p.W88C|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_5'UTR	NM_024086	NP_076991	Q86W50	MET16_HUMAN	methyltransferase 10 domain containing	88							methyltransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	2381044	2381044	9879	17	C	A	A	22	22	METT10D	A	2	2
USP6	9098	broad.mit.edu	37	17	5033921	5033921	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5033921G>T	uc002gau.1	+	11	2327	c.97G>T	c.(97-99)GAC>TAC	p.D33Y	USP6_uc002gav.1_Missense_Mutation_p.D33Y|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.2_Missense_Mutation_p.D33Y	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	33					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5								T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								---	---	---	---	capture		Missense_Mutation	SNP	5033921	5033921	17650	17	G	T	T	41	41	USP6	T	2	2
TP53	7157	broad.mit.edu	37	17	7578415	7578415	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578415A>C	uc002gim.2	-	5	709	c.515T>G	c.(514-516)GTT>GGT	p.V172G	TP53_uc002gig.1_Missense_Mutation_p.V172G|TP53_uc002gih.2_Missense_Mutation_p.V172G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V40G|TP53_uc010cng.1_Missense_Mutation_p.V40G|TP53_uc002gii.1_Missense_Mutation_p.V40G|TP53_uc010cnh.1_Missense_Mutation_p.V172G|TP53_uc010cni.1_Missense_Mutation_p.V172G|TP53_uc002gij.2_Missense_Mutation_p.V172G|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V79G|TP53_uc002gio.2_Missense_Mutation_p.V40G|TP53_uc010vug.1_Missense_Mutation_p.V133G	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	172	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> D (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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V172F(10)|p.V172D(8)|p.V172I(7)|p.0?(7)|p.V172V(4)|p.V172A(4)|p.V172fs*2(3)|p.V172G(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.E171fs*61(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171_V172delEV(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)			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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			---	---	---	---	capture		Missense_Mutation	SNP	7578415	7578415	16923	17	A	C	C	2	2	TP53	C	4	4
TMEM107	84314	broad.mit.edu	37	17	8077929	8077929	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8077929C>A	uc002gkg.3	-	4	372	c.262G>T	c.(262-264)GGG>TGG	p.G88W	TMEM107_uc002gkh.3_Missense_Mutation_p.G94W|TMEM107_uc002gki.3_Missense_Mutation_p.G94W|TMEM107_uc002gkj.3_Intron|TMEM107_uc002gkk.2_3'UTR	NM_183065	NP_898888	Q6UX40	TM107_HUMAN	transmembrane protein 107 isoform 2	88	Helical; (Potential).					integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	8077929	8077929	16553	17	C	A	A	21	21	TMEM107	A	2	2
FBXW10	10517	broad.mit.edu	37	17	18673259	18673259	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18673259C>A	uc002guk.2	+	11	2099	c.1867C>A	c.(1867-1869)CTT>ATT	p.L623I	FBXW10_uc002guj.2_Missense_Mutation_p.L623I|FBXW10_uc002gul.2_Missense_Mutation_p.L652I|FBXW10_uc010cqh.1_Intron	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	F-box and WD-40 domain protein 10	623	WD 7.									ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	18673259	18673259	6000	17	C	A	A	24	24	FBXW10	A	2	2
MAPK7	5598	broad.mit.edu	37	17	19284863	19284863	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19284863C>T	uc002gvn.2	+	4	1727	c.1341C>T	c.(1339-1341)GAC>GAT	p.D447D	MAPK7_uc002gvo.2_Silent_p.D308D|MAPK7_uc002gvq.2_Silent_p.D447D|MAPK7_uc002gvp.2_Silent_p.D447D	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	447	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)																	---	---	---	---	capture		Silent	SNP	19284863	19284863	9665	17	C	T	T	17	17	MAPK7	T	2	2
KIAA0100	9703	broad.mit.edu	37	17	26962447	26962447	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26962447G>T	uc002hbu.2	-	16	2257	c.2158C>A	c.(2158-2160)CCT>ACT	p.P720T		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	720						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)																	---	---	---	---	capture		Missense_Mutation	SNP	26962447	26962447	8461	17	G	T	T	43	43	KIAA0100	T	2	2
ERAL1	26284	broad.mit.edu	37	17	27186253	27186253	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27186253G>T	uc002hcy.1	+	9	1153	c.1143G>T	c.(1141-1143)GGG>GGT	p.G381G	ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_Silent_p.G188G|ERAL1_uc002hdb.1_Silent_p.G264G	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Era-like 1	381	KH type-2.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			skin(1)	1	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)															---	---	---	---	capture		Silent	SNP	27186253	27186253	5395	17	G	T	T	43	43	ERAL1	T	2	2
ATAD5	79915	broad.mit.edu	37	17	29221045	29221045	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29221045C>T	uc002hfs.1	+	21	5520	c.5174C>T	c.(5173-5175)TCA>TTA	p.S1725L		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1725					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)																---	---	---	---	capture		Missense_Mutation	SNP	29221045	29221045	1095	17	C	T	T	29	29	ATAD5	T	2	2
KRT222	125113	broad.mit.edu	37	17	38816289	38816289	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38816289C>A	uc002hvc.2	-	3	461	c.396G>T	c.(394-396)CTG>CTT	p.L132L	KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Silent_p.L92L|KRT222_uc010cxc.2_Silent_p.L92L	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	truncated type I keratin KA21	132	Potential.					intermediate filament	structural molecule activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	38816289	38816289	8774	17	C	A	A	21	21	KRT222	A	2	2
AOC2	314	broad.mit.edu	37	17	41002173	41002173	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41002173G>T	uc002ibu.2	+	4	2114	c.2079G>T	c.(2077-2079)CTG>CTT	p.L693L	AOC2_uc002ibt.2_Silent_p.L666L|AOC3_uc002ibv.2_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	693					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)														---	---	---	---	capture		Silent	SNP	41002173	41002173	737	17	G	T	T	47	47	AOC2	T	2	2
BRCA1	672	broad.mit.edu	37	17	41256906	41256906	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41256906G>A	uc002icq.2	-	5	512	c.280C>T	c.(280-282)CAG>TAG	p.Q94*	BRCA1_uc010whp.1_Nonsense_Mutation_p.Q47*|BRCA1_uc010whl.1_Nonsense_Mutation_p.Q94*|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Nonsense_Mutation_p.Q24*|BRCA1_uc002icu.2_Nonsense_Mutation_p.Q94*|BRCA1_uc010cyx.2_Nonsense_Mutation_p.Q47*|BRCA1_uc002ict.2_Nonsense_Mutation_p.Q94*|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_5'UTR|BRCA1_uc002idc.1_Nonsense_Mutation_p.Q94*|BRCA1_uc010whr.1_Nonsense_Mutation_p.Q47*|BRCA1_uc002idd.2_Nonsense_Mutation_p.Q94*|BRCA1_uc002ide.1_5'UTR|BRCA1_uc010cyy.1_Nonsense_Mutation_p.Q94*|BRCA1_uc010whs.1_Nonsense_Mutation_p.Q94*|BRCA1_uc010cyz.2_Nonsense_Mutation_p.Q47*|BRCA1_uc010cza.2_Nonsense_Mutation_p.Q68*|BRCA1_uc010wht.1_Intron	NM_007294	NP_009225	P38398	BRCA1_HUMAN	breast cancer 1, early onset isoform 1	94					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			ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)				D|Mis|N|F|S		ovarian	breast|ovarian		Homologous_recombination	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	TCGA Ovarian(2;0.000030)			---	---	---	---	capture		Nonsense_Mutation	SNP	41256906	41256906	1529	17	G	A	A	45	45	BRCA1	A	5	2
TMEM101	84336	broad.mit.edu	37	17	42089419	42089419	+	Silent	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42089419G>C	uc002ieu.2	-	4	676	c.651C>G	c.(649-651)CTC>CTG	p.L217L	TMEM101_uc010wis.1_Silent_p.L159L	NM_032376	NP_115752	Q96IK0	TM101_HUMAN	transmembrane protein 101	217	Helical; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)														---	---	---	---	capture		Silent	SNP	42089419	42089419	16546	17	G	C	C	45	45	TMEM101	C	3	3
NFE2L1	4779	broad.mit.edu	37	17	46135878	46135878	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46135878C>T	uc002imz.3	+	6	1845	c.1194C>T	c.(1192-1194)CCC>CCT	p.P398P	NFE2L1_uc002ina.3_Silent_p.P368P|NFE2L1_uc002inb.3_Silent_p.P368P|NFE2L1_uc010wle.1_Silent_p.P210P|NFE2L1_uc010wlf.1_Silent_p.P242P	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	nuclear factor erythroid 2-like 1	398					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	46135878	46135878	10767	17	C	T	T	21	21	NFE2L1	T	2	2
IGF2BP1	10642	broad.mit.edu	37	17	47122365	47122365	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47122365G>T	uc002iom.2	+	12	1667	c.1333G>T	c.(1333-1335)GAA>TAA	p.E445*	IGF2BP1_uc010dbj.2_Nonsense_Mutation_p.E306*	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	445	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	47122365	47122365	7874	17	G	T	T	37	37	IGF2BP1	T	5	1
STXBP4	252983	broad.mit.edu	37	17	53108533	53108533	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53108533T>C	uc002iuf.1	+	9	878	c.671T>C	c.(670-672)CTA>CCA	p.L224P	STXBP4_uc010dcc.1_Missense_Mutation_p.L149P|STXBP4_uc010dcd.1_Missense_Mutation_p.L224P	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	224						cytoplasm	calcium ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	53108533	53108533	15875	17	T	C	C	53	53	STXBP4	C	4	4
APPBP2	10513	broad.mit.edu	37	17	58538059	58538059	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58538059G>A	uc002iys.1	-	9	1314	c.1026C>T	c.(1024-1026)GTC>GTT	p.V342V	APPBP2_uc010ddl.1_Silent_p.V271V	NM_006380	NP_006371	Q92624	APBP2_HUMAN	amyloid beta precursor protein-binding protein	342	TPR 5.				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)															---	---	---	---	capture		Silent	SNP	58538059	58538059	827	17	G	A	A	41	41	APPBP2	A	2	2
SCN4A	6329	broad.mit.edu	37	17	62022909	62022909	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62022909C>A	uc002jds.1	-	19	3608	c.3531G>T	c.(3529-3531)ATG>ATT	p.M1177I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1177	III.|Helical; Name=S5 of repeat III; (Potential).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---	capture		Missense_Mutation	SNP	62022909	62022909	14402	17	C	A	A	21	21	SCN4A	A	2	2
SCN4A	6329	broad.mit.edu	37	17	62050090	62050090	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62050090G>T	uc002jds.1	-	1	189	c.112C>A	c.(112-114)CGG>AGG	p.R38R		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	38					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---	capture		Silent	SNP	62050090	62050090	14402	17	G	T	T	39	39	SCN4A	T	1	1
HELZ	9931	broad.mit.edu	37	17	65105674	65105674	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65105674G>T	uc010wqk.1	-	29	4237	c.4050C>A	c.(4048-4050)CCC>CCA	p.P1350P	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.P1349P|HELZ_uc010der.2_5'UTR	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)																	---	---	---	---	capture		Silent	SNP	65105674	65105674	7332	17	G	T	T	43	43	HELZ	T	2	2
SLC16A6	9120	broad.mit.edu	37	17	66267274	66267274	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66267274C>A	uc002jgz.1	-	5	1215	c.1027G>T	c.(1027-1029)GGA>TGA	p.G343*	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Nonsense_Mutation_p.G343*	NM_004694	NP_004685	O15403	MOT7_HUMAN	solute carrier family 16, member 6	343	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity				0	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)													---	---	---	---	capture		Nonsense_Mutation	SNP	66267274	66267274	14908	17	C	A	A	23	23	SLC16A6	A	5	1
ABCA9	10350	broad.mit.edu	37	17	66972116	66972116	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66972116A>T	uc002jhu.2	-	39	4958	c.4815T>A	c.(4813-4815)GAT>GAA	p.D1605E	ABCA9_uc010dez.2_Missense_Mutation_p.D1567E	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1605					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)																	---	---	---	---	capture		Missense_Mutation	SNP	66972116	66972116	40	17	A	T	T	12	12	ABCA9	T	4	4
ITGB4	3691	broad.mit.edu	37	17	73732234	73732234	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73732234G>T	uc002jpg.2	+	14	1947	c.1760G>T	c.(1759-1761)GGG>GTG	p.G587V	ITGB4_uc002jph.2_Missense_Mutation_p.G587V|ITGB4_uc010dgo.2_Missense_Mutation_p.G587V|ITGB4_uc002jpi.3_Missense_Mutation_p.G587V|ITGB4_uc010dgp.1_Missense_Mutation_p.G587V|ITGB4_uc002jpj.2_Missense_Mutation_p.G587V|ITGB4_uc010wsh.1_Missense_Mutation_p.G142V	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	587	Cysteine-rich tandem repeats.|Extracellular (Potential).|IV.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	73732234	73732234	8201	17	G	T	T	43	43	ITGB4	T	2	2
ITGB4	3691	broad.mit.edu	37	17	73733629	73733629	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73733629G>T	uc002jpg.2	+	18	2311	c.2124G>T	c.(2122-2124)CCG>CCT	p.P708P	ITGB4_uc002jph.2_Silent_p.P708P|ITGB4_uc010dgo.2_Silent_p.P708P|ITGB4_uc002jpi.3_Silent_p.P708P|ITGB4_uc010dgp.1_Silent_p.P708P|ITGB4_uc002jpj.2_Silent_p.P708P	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	708	Extracellular (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---	capture		Silent	SNP	73733629	73733629	8201	17	G	T	T	39	39	ITGB4	T	1	1
TRIM47	91107	broad.mit.edu	37	17	73870746	73870746	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73870746G>A	uc002jpw.2	-	6	1762	c.1735C>T	c.(1735-1737)CGG>TGG	p.R579W	TRIM47_uc002jpv.2_Missense_Mutation_p.R341W	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	tripartite motif-containing 47	579	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(2)|prostate(1)|lung(1)|breast(1)	5			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	73870746	73870746	17067	17	G	A	A	39	39	TRIM47	A	1	1
SRP68	6730	broad.mit.edu	37	17	74068409	74068409	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74068409C>A	uc002jqk.1	-	1	199	c.164G>T	c.(163-165)GGG>GTG	p.G55V	SRP68_uc010wsu.1_Intron|SRP68_uc002jql.1_Missense_Mutation_p.G55V|GALR2_uc002jqm.1_5'Flank	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	55					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	74068409	74068409	15670	17	C	A	A	22	22	SRP68	A	2	2
ZNF750	79755	broad.mit.edu	37	17	80790024	80790024	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80790024G>A	uc002kga.2	-	2	618	c.307C>T	c.(307-309)CAG>TAG	p.Q103*	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	103						intracellular	zinc ion binding			central_nervous_system(1)	1	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)															---	---	---	---	capture		Nonsense_Mutation	SNP	80790024	80790024	18730	17	G	A	A	45	45	ZNF750	A	5	2
LAMA3	3909	broad.mit.edu	37	18	21531685	21531685	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21531685C>A	uc002kuq.2	+	73	9766	c.9680C>A	c.(9679-9681)TCA>TAA	p.S3227*	LAMA3_uc002kur.2_Nonsense_Mutation_p.S3171*|LAMA3_uc002kus.3_Nonsense_Mutation_p.S1618*|LAMA3_uc002kut.3_Nonsense_Mutation_p.S1562*	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	3227	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---	capture		Nonsense_Mutation	SNP	21531685	21531685	8930	18	C	A	A	29	29	LAMA3	A	5	2
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	G	G	rs138128932	by1000genomes	TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47363917A>G	uc002leb.2	-	37	5396	c.5108T>C	c.(5107-5109)GTC>GCC	p.V1703A	MYO5B_uc002ldz.2_Missense_Mutation_p.V273A|MYO5B_uc002lea.2_Missense_Mutation_p.V818A	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)														---	---	---	---	capture		Missense_Mutation	SNP	47363917	47363917	10474	18	A	G	G	10	10	MYO5B	G	4	4
MYO5B	4645	broad.mit.edu	37	18	47404253	47404253	+	Splice_Site	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47404253C>A	uc002leb.2	-	25	3565	c.3277_splice	c.e25-1	p.Q1093_splice	MYO5B_uc002lea.2_Splice_Site_p.Q234_splice	NM_001080467	NP_001073936			myosin VB						protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)														---	---	---	---	capture		Splice_Site	SNP	47404253	47404253	10474	18	C	A	A	28	28	MYO5B	A	5	2
WDR7	23335	broad.mit.edu	37	18	54349917	54349917	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:54349917A>G	uc002lgk.1	+	5	564	c.353A>G	c.(352-354)CAG>CGG	p.Q118R	WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.Q118R	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	rabconnectin-3 beta isoform 1	118										ovary(2)|skin(1)	3				Lung(128;0.0238)|Colorectal(16;0.0296)														---	---	---	---	capture		Missense_Mutation	SNP	54349917	54349917	17893	18	A	G	G	7	7	WDR7	G	4	4
ATP8B1	5205	broad.mit.edu	37	18	55328514	55328514	+	Missense_Mutation	SNP	G	T	T	rs71990882		TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:55328514G>T	uc002lgw.2	-	21	2599	c.2599C>A	c.(2599-2601)CGC>AGC	p.R867S	uc002lgu.1_Intron|uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	ATPase, class I, type 8B, member 1	867	Cytoplasmic (Potential).		R -> C (in ICP).		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10		Colorectal(73;0.229)												Byler_disease				---	---	---	---	capture		Missense_Mutation	SNP	55328514	55328514	1213	18	G	T	T	39	39	ATP8B1	T	1	1
PHLPP1	23239	broad.mit.edu	37	18	60612496	60612496	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60612496G>C	uc002lis.2	+	13	1958	c.1780G>C	c.(1780-1782)GAG>CAG	p.E594Q		NM_194449	NP_919431	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein	1106	LRR 20.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	60612496	60612496	12278	18	G	C	C	33	33	PHLPP1	C	3	3
C18orf55	29090	broad.mit.edu	37	18	71816207	71816207	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:71816207G>C	uc010dqr.1	+	1	462	c.164G>C	c.(163-165)AGA>ACA	p.R55T	FBXO15_uc002lle.2_5'Flank|FBXO15_uc002llf.2_5'Flank	NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	hypothetical protein LOC29090 precursor	55					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane					0		Esophageal squamous(42;0.0746)|Prostate(75;0.157)|Melanoma(33;0.211)																---	---	---	---	capture		Missense_Mutation	SNP	71816207	71816207	1966	18	G	C	C	33	33	C18orf55	C	3	3
MKNK2	2872	broad.mit.edu	37	19	2043172	2043172	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2043172G>A	uc002lus.2	-	7	689	c.444C>T	c.(442-444)TTC>TTT	p.F148F	MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_Intron|MKNK2_uc010xgv.1_Silent_p.F17F|MKNK2_uc002lur.2_Silent_p.F148F|MKNK2_uc002lut.1_5'Flank	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	MAP kinase-interacting serine/threonine kinase 2	148	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(1)|breast(1)	2		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Silent	SNP	2043172	2043172	9995	19	G	A	A	33	33	MKNK2	A	2	2
MUC16	94025	broad.mit.edu	37	19	9047990	9047990	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9047990C>G	uc002mkp.2	-	5	33845	c.33641G>C	c.(33640-33642)AGT>ACT	p.S11214T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11216	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Missense_Mutation	SNP	9047990	9047990	10367	19	C	G	G	20	20	MUC16	G	3	3
MUC16	94025	broad.mit.edu	37	19	9076334	9076334	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9076334A>T	uc002mkp.2	-	3	11316	c.11112T>A	c.(11110-11112)GAT>GAA	p.D3704E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	3705	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Missense_Mutation	SNP	9076334	9076334	10367	19	A	T	T	8	8	MUC16	T	4	4
ZNF426	79088	broad.mit.edu	37	19	9639645	9639645	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9639645C>A	uc002mlq.2	-	8	1340	c.1076G>T	c.(1075-1077)AGT>ATT	p.S359I	ZNF426_uc010dws.2_Missense_Mutation_p.S321I	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	9639645	9639645	18493	19	C	A	A	20	20	ZNF426	A	2	2
ICAM5	7087	broad.mit.edu	37	19	10401852	10401852	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10401852G>C	uc002mnu.3	+	2	252	c.187G>C	c.(187-189)GAG>CAG	p.E63Q	ICAM5_uc002mnv.3_5'Flank	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	63	Extracellular (Potential).|Ig-like C2-type 1.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)															---	---	---	---	capture		Missense_Mutation	SNP	10401852	10401852	7783	19	G	C	C	41	41	ICAM5	C	3	3
RAVER1	125950	broad.mit.edu	37	19	10431535	10431535	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10431535C>A	uc002moa.2	-	9	1697	c.1617G>T	c.(1615-1617)GCG>GCT	p.A539A	RAVER1_uc002mnz.2_5'Flank	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	RAVER1	539						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)															---	---	---	---	capture		Silent	SNP	10431535	10431535	13555	19	C	A	A	23	23	RAVER1	A	1	1
TYK2	7297	broad.mit.edu	37	19	10475529	10475529	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10475529G>T	uc002moc.3	-	8	1585	c.1207C>A	c.(1207-1209)CTG>ATG	p.L403M	TYK2_uc010dxe.2_Missense_Mutation_p.L218M|TYK2_uc002mod.2_Missense_Mutation_p.L403M	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	403	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)															---	---	---	---	capture		Missense_Mutation	SNP	10475529	10475529	17367	19	G	T	T	35	35	TYK2	T	2	2
SLC44A2	57153	broad.mit.edu	37	19	10736965	10736965	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10736965C>A	uc002mpf.2	+	2	213	c.74C>A	c.(73-75)CCC>CAC	p.P25H	SLC44A2_uc002mpe.3_Missense_Mutation_p.P23H	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	solute carrier family 44, member 2 isoform 1	25	Cytoplasmic (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			ovary(1)	1			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)													---	---	---	---	capture		Missense_Mutation	SNP	10736965	10736965	15133	19	C	A	A	22	22	SLC44A2	A	2	2
CCDC151	115948	broad.mit.edu	37	19	11533515	11533515	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11533515C>A	uc002mrs.2	-	9	1274	c.1131G>T	c.(1129-1131)CGG>CGT	p.R377R	CCDC151_uc002mrr.2_Silent_p.R312R|CCDC151_uc010dxz.2_Silent_p.R317R	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	377										ovary(1)	1																		---	---	---	---	capture		Silent	SNP	11533515	11533515	2906	19	C	A	A	18	18	CCDC151	A	2	2
EMR3	84658	broad.mit.edu	37	19	14748926	14748926	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14748926G>T	uc002mzi.3	-	11	1623	c.1475C>A	c.(1474-1476)ACT>AAT	p.T492N	EMR3_uc010dzp.2_Missense_Mutation_p.T440N|EMR3_uc010xnv.1_Missense_Mutation_p.T366N	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	492	Extracellular (Potential).				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	14748926	14748926	5299	19	G	T	T	36	36	EMR3	T	2	2
MYO9B	4650	broad.mit.edu	37	19	17264809	17264809	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17264809G>T	uc010eak.2	+	5	1183	c.1031G>T	c.(1030-1032)GGG>GTG	p.G344V	MYO9B_uc002nfi.2_Missense_Mutation_p.G344V|MYO9B_uc002nfj.1_Missense_Mutation_p.G344V	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	myosin IXB isoform 1	344	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17264809	17264809	10480	19	G	T	T	43	43	MYO9B	T	2	2
NCAN	1463	broad.mit.edu	37	19	19338960	19338960	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19338960G>T	uc002nlz.2	+	8	2630	c.2531G>T	c.(2530-2532)TGG>TTG	p.W844L	NCAN_uc010ecc.1_Missense_Mutation_p.W408L	NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	844					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)															---	---	---	---	capture		Missense_Mutation	SNP	19338960	19338960	10603	19	G	T	T	47	47	NCAN	T	2	2
NDUFA13	51079	broad.mit.edu	37	19	19646197	19646197	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19646197C>T	uc010xqy.1	+	6	986	c.727C>T	c.(727-729)CGG>TGG	p.R243W	YJEFN3_uc002nmt.1_Missense_Mutation_p.R161W|YJEFN3_uc010ecf.1_Missense_Mutation_p.R111W|YJEFN3_uc002nmu.1_RNA|CILP2_uc002nmv.3_5'Flank|CILP2_uc002nmw.3_5'Flank	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	Error:Variant_position_missing_in_Q9P0J0_after_alignment					apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	19646197	19646197	10662	19	C	T	T	31	31	NDUFA13	T	1	1
GMIP	51291	broad.mit.edu	37	19	19741290	19741290	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19741290C>A	uc002nnd.2	-	20	2646	c.2529G>T	c.(2527-2529)GGG>GGT	p.G843G	LPAR2_uc002nnb.3_5'Flank|LPAR2_uc002nna.3_5'Flank|LPAR2_uc002nnc.3_5'Flank|GMIP_uc010xrb.1_Silent_p.G817G|GMIP_uc010xrc.1_Silent_p.G814G	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	843					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	19741290	19741290	6760	19	C	A	A	22	22	GMIP	A	2	2
UQCRFS1	7386	broad.mit.edu	37	19	29698533	29698533	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:29698533G>C	uc002nsd.2	-	2	858	c.747C>G	c.(745-747)ATC>ATG	p.I249M		NM_006003	NP_005994	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske	249	Rieske.				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity				0	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)															---	---	---	---	capture		Missense_Mutation	SNP	29698533	29698533	17582	19	G	C	C	45	45	UQCRFS1	C	3	3
SLC7A9	11136	broad.mit.edu	37	19	33350756	33350756	+	Silent	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33350756C>G	uc002ntv.3	-	8	981	c.864G>C	c.(862-864)GCG>GCC	p.A288A	SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Silent_p.A288A|SLC7A9_uc002ntw.3_Silent_p.A79A	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	288	Extracellular (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)													---	---	---	---	capture		Silent	SNP	33350756	33350756	15202	19	C	G	G	23	23	SLC7A9	G	3	3
DMKN	93099	broad.mit.edu	37	19	35990889	35990889	+	Missense_Mutation	SNP	C	A	A	rs146303540		TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35990889C>A	uc002nzm.3	-	13	1513	c.1330G>T	c.(1330-1332)GGG>TGG	p.G444W	DMKN_uc002nzi.3_Missense_Mutation_p.G58W|DMKN_uc002nzj.2_Missense_Mutation_p.G132W|DMKN_uc002nzk.3_Missense_Mutation_p.G105W|DMKN_uc002nzl.3_Missense_Mutation_p.G157W|DMKN_uc002nzo.3_Missense_Mutation_p.G433W|DMKN_uc002nzn.3_Missense_Mutation_p.G417W|DMKN_uc002nzw.2_Missense_Mutation_p.G114W|DMKN_uc002nzr.2_Missense_Mutation_p.G100W|DMKN_uc002nzp.2_Missense_Mutation_p.G138W|DMKN_uc002nzq.2_Missense_Mutation_p.G120W|DMKN_uc002nzt.2_Missense_Mutation_p.G91W|DMKN_uc002nzs.2_Missense_Mutation_p.G91W|DMKN_uc002nzu.2_Missense_Mutation_p.G105W|DMKN_uc002nzv.2_Missense_Mutation_p.G91W|DMKN_uc010xsv.1_3'UTR|DMKN_uc010xsw.1_3'UTR	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine isoform 2 precursor	444						extracellular region				large_intestine(1)|ovary(1)|skin(1)	3	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)															---	---	---	---	capture		Missense_Mutation	SNP	35990889	35990889	4762	19	C	A	A	21	21	DMKN	A	2	2
KIRREL2	84063	broad.mit.edu	37	19	36351210	36351210	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36351210G>C	uc002ocb.3	+	6	897	c.685G>C	c.(685-687)GTG>CTG	p.V229L	KIRREL2_uc002obz.3_Missense_Mutation_p.V229L|KIRREL2_uc002oca.3_Missense_Mutation_p.V179L|KIRREL2_uc002occ.3_Missense_Mutation_p.V176L|KIRREL2_uc002ocd.3_Missense_Mutation_p.V226L	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c	229	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	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)															---	---	---	---	capture		Missense_Mutation	SNP	36351210	36351210	8637	19	G	C	C	44	44	KIRREL2	C	3	3
RYR1	6261	broad.mit.edu	37	19	38948752	38948752	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38948752T>C	uc002oit.2	+	18	2117	c.1987T>C	c.(1987-1989)TTT>CTT	p.F663L	RYR1_uc002oiu.2_Missense_Mutation_p.F663L	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	663	Cytoplasmic.|B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---	capture		Missense_Mutation	SNP	38948752	38948752	14248	19	T	C	C	56	56	RYR1	C	4	4
RYR1	6261	broad.mit.edu	37	19	38994876	38994876	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38994876A>G	uc002oit.2	+	50	8073	c.7943A>G	c.(7942-7944)TAT>TGT	p.Y2648C	RYR1_uc002oiu.2_Missense_Mutation_p.Y2648C|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2648	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---	capture		Missense_Mutation	SNP	38994876	38994876	14248	19	A	G	G	16	16	RYR1	G	4	4
IL28B	282617	broad.mit.edu	37	19	39734686	39734686	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39734686G>T	uc010xut.1	-	3	374	c.370C>A	c.(370-372)CAC>AAC	p.H124N	IL28B_uc010xuu.1_Missense_Mutation_p.H124N	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	124					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)															---	---	---	---	capture		Missense_Mutation	SNP	39734686	39734686	7984	19	G	T	T	45	45	IL28B	T	2	2
PAF1	54623	broad.mit.edu	37	19	39880797	39880797	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39880797C>A	uc002old.2	-	3	257	c.82G>T	c.(82-84)GGA>TGA	p.G28*	PAF1_uc002ole.1_Nonsense_Mutation_p.G18*|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor,	28					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			pancreas(1)	1	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)															---	---	---	---	capture		Nonsense_Mutation	SNP	39880797	39880797	11799	19	C	A	A	21	21	PAF1	A	5	2
SELV	348303	broad.mit.edu	37	19	40006605	40006605	+	Silent	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40006605C>G	uc010xvc.1	+	1	853	c.753C>G	c.(751-753)CCC>CCG	p.P251P		NM_182704	NP_874363	P59797	SELV_HUMAN	selenoprotein V	251					cell redox homeostasis		selenium binding				0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)															---	---	---	---	capture		Silent	SNP	40006605	40006605	14509	19	C	G	G	24	24	SELV	G	3	3
ZNF780B	163131	broad.mit.edu	37	19	40541434	40541434	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40541434G>T	uc002omu.2	-	5	1397	c.1332C>A	c.(1330-1332)CCC>CCA	p.P444P	ZNF780B_uc002omv.2_Silent_p.P296P	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---	capture		Silent	SNP	40541434	40541434	18751	19	G	T	T	35	35	ZNF780B	T	2	2
B3GNT8	374907	broad.mit.edu	37	19	41931914	41931914	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41931914A>C	uc002oqs.2	-	3	1224	c.770T>G	c.(769-771)CTG>CGG	p.L257R	CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal	257	Lumenal (Potential).				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	41931914	41931914	1284	19	A	C	C	7	7	B3GNT8	C	4	4
IRGC	56269	broad.mit.edu	37	19	44223961	44223961	+	Silent	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44223961G>C	uc002oxh.2	+	2	1398	c.1251G>C	c.(1249-1251)GTG>GTC	p.V417V		NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	417						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(69;0.0435)																---	---	---	---	capture		Silent	SNP	44223961	44223961	8141	19	G	C	C	47	47	IRGC	C	3	3
ZNF230	7773	broad.mit.edu	37	19	44514618	44514618	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44514618G>T	uc002oyb.1	+	5	678	c.427G>T	c.(427-429)GGG>TGG	p.G143W		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	143	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)																---	---	---	---	capture		Missense_Mutation	SNP	44514618	44514618	18375	19	G	T	T	47	47	ZNF230	T	2	2
ERCC2	2068	broad.mit.edu	37	19	45864832	45864832	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45864832G>T	uc002pbj.2	-	12	1234	c.1187C>A	c.(1186-1188)CCG>CAG	p.P396Q	ERCC2_uc002pbh.2_5'Flank|ERCC2_uc002pbi.2_Missense_Mutation_p.P89Q|ERCC2_uc010ejz.2_Missense_Mutation_p.P318Q|ERCC2_uc002pbk.2_Missense_Mutation_p.P372Q|ERCC2_uc002pbl.3_Missense_Mutation_p.P372Q	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	396					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)				Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				---	---	---	---	capture		Missense_Mutation	SNP	45864832	45864832	5406	19	G	T	T	39	39	ERCC2	T	1	1
RSPH6A	81492	broad.mit.edu	37	19	46308061	46308061	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46308061C>T	uc002pdm.2	-	3	1245	c.1102G>A	c.(1102-1104)GAG>AAG	p.E368K	RSPH6A_uc002pdl.2_Missense_Mutation_p.E104K	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	368	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	46308061	46308061	14187	19	C	T	T	30	30	RSPH6A	T	2	2
PNMAL1	55228	broad.mit.edu	37	19	46973213	46973213	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46973213G>T	uc002peq.3	-	2	1386	c.1080C>A	c.(1078-1080)CCC>CCA	p.P360P	PNMAL1_uc002per.3_Silent_p.P360P	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	360											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)														---	---	---	---	capture		Silent	SNP	46973213	46973213	12584	19	G	T	T	47	47	PNMAL1	T	2	2
CLEC11A	6320	broad.mit.edu	37	19	51226889	51226889	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51226889C>T	uc002psy.2	+	1	285	c.107C>T	c.(106-108)GCC>GTC	p.A36V		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	stem cell growth factor precursor	36					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			ovary(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)														---	---	---	---	capture		Missense_Mutation	SNP	51226889	51226889	3633	19	C	T	T	26	26	CLEC11A	T	2	2
KLK13	26085	broad.mit.edu	37	19	51559960	51559960	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51559960C>A	uc002pvn.2	-	5	761	c.718G>T	c.(718-720)GGG>TGG	p.G240W	KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.G167W|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Missense_Mutation_p.G88W	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	kallikrein 13 precursor	240	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)														---	---	---	---	capture		Missense_Mutation	SNP	51559960	51559960	8715	19	C	A	A	21	21	KLK13	A	2	2
NKG7	4818	broad.mit.edu	37	19	51875756	51875756	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51875756C>A	uc002pwj.2	-	1	205	c.34G>T	c.(34-36)GGC>TGC	p.G12C	NKG7_uc002pwk.2_Missense_Mutation_p.G12C	NM_005601	NP_005592	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	12	Helical; (Potential).					integral to plasma membrane				central_nervous_system(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)														---	---	---	---	capture		Missense_Mutation	SNP	51875756	51875756	10844	19	C	A	A	22	22	NKG7	A	2	2
ZNF615	284370	broad.mit.edu	37	19	52497492	52497492	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52497492C>T	uc002pye.1	-	6	1129	c.837G>A	c.(835-837)CAG>CAA	p.Q279Q	ZNF615_uc002pyf.1_Silent_p.Q290Q|ZNF615_uc002pyg.1_Silent_p.Q171Q|ZNF615_uc002pyh.1_Silent_p.Q290Q|ZNF615_uc010epi.1_Silent_p.Q286Q|ZNF615_uc010ydg.1_Silent_p.Q284Q	NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN	zinc finger protein 615	279	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)														---	---	---	---	capture		Silent	SNP	52497492	52497492	18635	19	C	T	T	32	32	ZNF615	T	2	2
ZNF331	55422	broad.mit.edu	37	19	54080277	54080277	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54080277G>T	uc002qbx.1	+	7	1897	c.463G>T	c.(463-465)GGT>TGT	p.G155C	ZNF331_uc002qby.1_Missense_Mutation_p.G155C|ZNF331_uc002qbz.1_Missense_Mutation_p.G155C|ZNF331_uc002qca.1_Missense_Mutation_p.G155C|ZNF331_uc010eqr.1_Missense_Mutation_p.G155C|ZNF331_uc002qcb.1_Missense_Mutation_p.G155C|ZNF331_uc002qcc.1_Missense_Mutation_p.G155C|ZNF331_uc002qcd.1_Missense_Mutation_p.G155C	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6				GBM - Glioblastoma multiforme(134;0.00555)				T	?	follicular thyroid adenoma								---	---	---	---	capture		Missense_Mutation	SNP	54080277	54080277	18441	19	G	T	T	47	47	ZNF331	T	2	2
CACNG6	59285	broad.mit.edu	37	19	54515268	54515268	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54515268T>C	uc002qct.2	+	4	1198	c.608T>C	c.(607-609)GTC>GCC	p.V203A	CACNG6_uc002qcu.2_Missense_Mutation_p.V157A|CACNG6_uc002qcv.2_Missense_Mutation_p.V132A	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	voltage-dependent calcium channel gamma-6	203						voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(2)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	54515268	54515268	2677	19	T	C	C	58	58	CACNG6	C	4	4
LILRA4	23547	broad.mit.edu	37	19	54848764	54848764	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54848764G>A	uc002qfj.2	-	5	916	c.859C>T	c.(859-861)CGC>TGC	p.R287C	LILRA4_uc002qfi.2_Missense_Mutation_p.R221C	NM_012276	NP_036408	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor subfamily	287	Extracellular (Potential).|Ig-like C2-type 3.					integral to membrane	receptor activity			upper_aerodigestive_tract(1)|central_nervous_system(1)	2	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)														---	---	---	---	capture		Missense_Mutation	SNP	54848764	54848764	9113	19	G	A	A	39	39	LILRA4	A	1	1
LILRB4	11006	broad.mit.edu	37	19	55179359	55179359	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55179359C>T	uc002qgp.2	+	12	1598	c.1236C>T	c.(1234-1236)TAC>TAT	p.Y412Y	LILRB4_uc002qgq.2_Silent_p.Y411Y|LILRB4_uc002qgr.2_Silent_p.Y454Y|LILRB4_uc010ert.2_Silent_p.Y453Y|LILRB4_uc010eru.2_Silent_p.Y442Y	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor,	412	Cytoplasmic (Potential).|ITIM motif 2.					integral to membrane|plasma membrane	antigen binding|receptor activity	p.Y412Y(1)		ovary(3)	3				GBM - Glioblastoma multiforme(193;0.035)														---	---	---	---	capture		Silent	SNP	55179359	55179359	9119	19	C	T	T	19	19	LILRB4	T	1	1
PTPRH	5794	broad.mit.edu	37	19	55708523	55708523	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55708523T>A	uc002qjq.2	-	9	2025	c.1952A>T	c.(1951-1953)GAC>GTC	p.D651V	PTPRH_uc010esv.2_Missense_Mutation_p.D473V|PTPRH_uc002qjs.2_Missense_Mutation_p.D658V	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	651	Extracellular (Potential).|Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)														---	---	---	---	capture		Missense_Mutation	SNP	55708523	55708523	13260	19	T	A	A	58	58	PTPRH	A	4	4
ZNF471	57573	broad.mit.edu	37	19	57035763	57035763	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57035763G>T	uc002qnh.2	+	5	460	c.327G>T	c.(325-327)GAG>GAT	p.E109D		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)														---	---	---	---	capture		Missense_Mutation	SNP	57035763	57035763	18524	19	G	T	T	35	35	ZNF471	T	2	2
ZNF416	55659	broad.mit.edu	37	19	58084574	58084574	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58084574G>T	uc002qpf.2	-	4	869	c.698C>A	c.(697-699)CCT>CAT	p.P233H	ZNF547_uc002qpm.3_Intron	NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)														---	---	---	---	capture		Missense_Mutation	SNP	58084574	58084574	18486	19	G	T	T	35	35	ZNF416	T	2	2
ZNF586	54807	broad.mit.edu	37	19	58291011	58291011	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58291011A>C	uc002qqd.2	+	3	1242	c.1056A>C	c.(1054-1056)AAA>AAC	p.K352N	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_3'UTR|ZNF586_uc010euh.2_Missense_Mutation_p.K309N|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	352	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	58291011	58291011	18614	19	A	C	C	4	4	ZNF586	C	4	4
ZSCAN1	284312	broad.mit.edu	37	19	58565188	58565188	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58565188C>T	uc002qrc.1	+	6	1243	c.996C>T	c.(994-996)AAC>AAT	p.N332N		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	332	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)														---	---	---	---	capture		Silent	SNP	58565188	58565188	18830	19	C	T	T	20	20	ZSCAN1	T	2	2
MYT1L	23040	broad.mit.edu	37	2	1920985	1920985	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1920985G>T	uc002qxe.2	-	11	2437	c.1610C>A	c.(1609-1611)CCT>CAT	p.P537H	MYT1L_uc002qxd.2_Missense_Mutation_p.P535H|MYT1L_uc010ewl.1_RNA	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	537					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|central_nervous_system(1)	6	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)														---	---	---	---	capture		Missense_Mutation	SNP	1920985	1920985	10502	2	G	T	T	35	35	MYT1L	T	2	2
GTF3C2	2976	broad.mit.edu	37	2	27556624	27556624	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27556624C>A	uc002rjv.1	-	13	1993	c.1630G>T	c.(1630-1632)GGG>TGG	p.G544W	GTF3C2_uc010eyy.1_5'UTR|GTF3C2_uc002rju.1_Missense_Mutation_p.G555W|GTF3C2_uc002rjw.1_Missense_Mutation_p.G544W|GTF3C2_uc010eyz.1_Missense_Mutation_p.G544W|uc002rjy.1_5'Flank	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	544						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Missense_Mutation	SNP	27556624	27556624	7153	2	C	A	A	22	22	GTF3C2	A	2	2
C2orf16	84226	broad.mit.edu	37	2	27802638	27802638	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27802638C>A	uc002rkz.3	+	1	3250	c.3199C>A	c.(3199-3201)CTC>ATC	p.L1067I		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1067										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	27802638	27802638	2243	2	C	A	A	24	24	C2orf16	A	2	2
EHD3	30845	broad.mit.edu	37	2	31483532	31483532	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31483532A>C	uc002rnu.2	+	4	1267	c.659A>C	c.(658-660)AAA>ACA	p.K220T	EHD3_uc010ymt.1_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	220	Potential.	ATP (By similarity).			blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	31483532	31483532	5168	2	A	C	C	1	1	EHD3	C	4	4
SOS1	6654	broad.mit.edu	37	2	39240652	39240652	+	Nonsense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39240652T>A	uc002rrk.3	-	13	2157	c.2116A>T	c.(2116-2118)AGA>TGA	p.R706*	SOS1_uc002rrj.3_Nonsense_Mutation_p.R320*	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	706	N-terminal Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)												Noonan_syndrome				---	---	---	---	capture		Nonsense_Mutation	SNP	39240652	39240652	15436	2	T	A	A	56	56	SOS1	A	5	4
LHCGR	3973	broad.mit.edu	37	2	48915114	48915114	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48915114G>A	uc002rwu.3	-	11	1892	c.1822C>T	c.(1822-1824)CTG>TTG	p.L608L	GTF2A1L_uc002rwt.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	608	Helical; Name=7; (Potential).		Missing (in LHR; Leydig cell hypoplasia type 1).		male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			ovary(3)|lung(2)|breast(2)|skin(1)	8		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)									Familial_Male-Limited_Precocious_Puberty				---	---	---	---	capture		Silent	SNP	48915114	48915114	9088	2	G	A	A	36	36	LHCGR	A	2	2
NRXN1	9378	broad.mit.edu	37	2	50779788	50779788	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50779788G>T	uc010fbq.2	-	9	3293	c.1816C>A	c.(1816-1818)CTG>ATG	p.L606M	NRXN1_uc002rxb.3_Missense_Mutation_p.L238M|NRXN1_uc002rxe.3_Missense_Mutation_p.L566M|NRXN1_uc002rxc.1_RNA	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---	capture		Missense_Mutation	SNP	50779788	50779788	11070	2	G	T	T	35	35	NRXN1	T	2	2
VPS54	51542	broad.mit.edu	37	2	64169644	64169644	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64169644G>A	uc002scq.2	-	11	1516	c.1353C>T	c.(1351-1353)CTC>CTT	p.L451L	VPS54_uc002scp.2_Silent_p.L439L|VPS54_uc010fct.2_Silent_p.L298L	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 isoform 1	451					protein transport|retrograde transport, endosome to Golgi						0																		---	---	---	---	capture		Silent	SNP	64169644	64169644	17783	2	G	A	A	45	45	VPS54	A	2	2
C2orf3	6936	broad.mit.edu	37	2	75923427	75923427	+	Silent	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75923427A>G	uc002sno.2	-	5	862	c.732T>C	c.(730-732)GAT>GAC	p.D244D	C2orf3_uc010ffs.2_5'UTR|C2orf3_uc002snn.2_Silent_p.D75D|C2orf3_uc010fft.2_Intron	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	244					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	75923427	75923427	2250	2	A	G	G	12	12	C2orf3	G	4	4
TMEM131	23505	broad.mit.edu	37	2	98435149	98435149	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98435149C>A	uc002syh.3	-	12	1339	c.1110G>T	c.(1108-1110)ACG>ACT	p.T370T	TMEM131_uc010yvg.1_Intron	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	370						integral to membrane		p.V370A(1)		ovary(4)|central_nervous_system(2)	6																		---	---	---	---	capture		Silent	SNP	98435149	98435149	16575	2	C	A	A	23	23	TMEM131	A	1	1
MAP4K4	9448	broad.mit.edu	37	2	102499117	102499117	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102499117G>A	uc002tbg.2	+	25	3110	c.3055G>A	c.(3055-3057)GAT>AAT	p.D1019N	MAP4K4_uc002tbc.2_Missense_Mutation_p.D1100N|MAP4K4_uc002tbd.2_Missense_Mutation_p.D992N|MAP4K4_uc002tbe.2_Missense_Mutation_p.D938N|MAP4K4_uc002tbf.2_Missense_Mutation_p.D1053N|MAP4K4_uc010yvy.1_Missense_Mutation_p.D1015N|MAP4K4_uc002tbh.2_Missense_Mutation_p.D937N|MAP4K4_uc002tbi.2_Missense_Mutation_p.D822N|MAP4K4_uc010yvz.1_Missense_Mutation_p.D1059N|MAP4K4_uc002tbk.2_Missense_Mutation_p.D474N|MAP4K4_uc002tbl.2_Missense_Mutation_p.D205N	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	1019	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	102499117	102499117	9645	2	G	A	A	41	41	MAP4K4	A	2	2
IL1RN	3557	broad.mit.edu	37	2	113890339	113890339	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113890339C>A	uc002tjb.2	+	4	489	c.425C>A	c.(424-426)CCC>CAC	p.P142H	IL1RN_uc002tix.1_RNA|IL1RN_uc002tiy.2_Missense_Mutation_p.P108H|IL1RN_uc002tiz.2_Missense_Mutation_p.P145H|IL1RN_uc002tja.2_Missense_Mutation_p.P124H	NM_173842	NP_776214	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist isoform 1	142					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			skin(2)	2					Anakinra(DB00026)									Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				---	---	---	---	capture		Missense_Mutation	SNP	113890339	113890339	7966	2	C	A	A	22	22	IL1RN	A	2	2
TMEM177	80775	broad.mit.edu	37	2	120438762	120438762	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120438762G>T	uc010flg.1	+	2	806	c.333G>T	c.(331-333)TTG>TTT	p.L111F	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Missense_Mutation_p.L111F|TMEM177_uc002tmd.2_Missense_Mutation_p.L111F|TMEM177_uc010flh.2_Intron	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	111						integral to membrane				ovary(1)	1	Colorectal(110;0.196)																	---	---	---	---	capture		Missense_Mutation	SNP	120438762	120438762	16628	2	G	T	T	47	47	TMEM177	T	2	2
GPR39	2863	broad.mit.edu	37	2	133402693	133402693	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133402693G>A	uc002ttl.2	+	2	1345	c.876G>A	c.(874-876)TTG>TTA	p.L292L	LYPD1_uc002ttm.3_3'UTR|LYPD1_uc002ttn.2_3'UTR|LYPD1_uc002tto.2_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	G protein-coupled receptor 39	292	Helical; Name=6; (Potential).					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding				0																		---	---	---	---	capture		Silent	SNP	133402693	133402693	6968	2	G	A	A	47	47	GPR39	A	2	2
LCT	3938	broad.mit.edu	37	2	136575393	136575393	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136575393T>G	uc002tuu.1	-	6	1236	c.1225A>C	c.(1225-1227)AGC>CGC	p.S409R		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	409	Extracellular (Potential).|4 X approximate repeats.|2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)														---	---	---	---	capture		Missense_Mutation	SNP	136575393	136575393	9017	2	T	G	G	54	54	LCT	G	4	4
LRP1B	53353	broad.mit.edu	37	2	141055532	141055532	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141055532G>T	uc002tvj.1	-	84	13784	c.12812C>A	c.(12811-12813)CCC>CAC	p.P4271H		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4271	Extracellular (Potential).|EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	141055532	141055532	9328	2	G	T	T	43	43	LRP1B	T	2	2
ZEB2	9839	broad.mit.edu	37	2	145157348	145157348	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:145157348T>A	uc002tvu.2	-	8	1886	c.1406A>T	c.(1405-1407)AAT>ATT	p.N469I	ZEB2_uc002tvv.2_Missense_Mutation_p.N463I|ZEB2_uc010zbm.1_Missense_Mutation_p.N440I|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.N498I	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	469	SMAD-MH2 binding domain (By similarity).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)														---	---	---	---	capture		Missense_Mutation	SNP	145157348	145157348	18212	2	T	A	A	52	52	ZEB2	A	4	4
MBD5	55777	broad.mit.edu	37	2	149247347	149247347	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149247347G>T	uc002twm.3	+	12	4435	c.3447G>T	c.(3445-3447)ATG>ATT	p.M1149I	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.M1149I|MBD5_uc002two.2_Missense_Mutation_p.M407I|MBD5_uc002twp.2_Missense_Mutation_p.M199I	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1149						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)														---	---	---	---	capture		Missense_Mutation	SNP	149247347	149247347	9735	2	G	T	T	47	47	MBD5	T	2	2
SCN1A	6323	broad.mit.edu	37	2	166895999	166895999	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166895999C>A	uc010zcz.1	-	14	2508	c.2490G>T	c.(2488-2490)ACG>ACT	p.T830T	SCN1A_uc002udo.3_Silent_p.T710T|SCN1A_uc010fpk.2_Silent_p.T682T	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	841	II.|Helical; Name=S3 of repeat II; (By similarity).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)													---	---	---	---	capture		Silent	SNP	166895999	166895999	14396	2	C	A	A	27	27	SCN1A	A	1	1
LRP2	4036	broad.mit.edu	37	2	170042418	170042418	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170042418T>C	uc002ues.2	-	50	9653	c.9440A>G	c.(9439-9441)AAG>AGG	p.K3147R		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3147	EGF-like 11.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---	capture		Missense_Mutation	SNP	170042418	170042418	9329	2	T	C	C	56	56	LRP2	C	4	4
TTN	7273	broad.mit.edu	37	2	179406245	179406245	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179406245C>G	uc010zfg.1	-	299	90079	c.89855G>C	c.(89854-89856)TGG>TCG	p.W29952S	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W23647S|TTN_uc010zfi.1_Missense_Mutation_p.W23580S|TTN_uc010zfj.1_Missense_Mutation_p.W23455S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30879							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	179406245	179406245	17290	2	C	G	G	21	21	TTN	G	3	3
TTN	7273	broad.mit.edu	37	2	179414186	179414186	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179414186G>T	uc010zfg.1	-	288	84687	c.84463C>A	c.(84463-84465)CCT>ACT	p.P28155T	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P21850T|TTN_uc010zfi.1_Missense_Mutation_p.P21783T|TTN_uc010zfj.1_Missense_Mutation_p.P21658T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29082							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	179414186	179414186	17290	2	G	T	T	43	43	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179479401	179479401	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179479401G>T	uc010zfg.1	-	210	41360	c.41136C>A	c.(41134-41136)GCC>GCA	p.A13712A	uc002ump.1_RNA|TTN_uc010zfh.1_Silent_p.A7407A|TTN_uc010zfi.1_Silent_p.A7340A|TTN_uc010zfj.1_Silent_p.A7215A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14639							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Silent	SNP	179479401	179479401	17290	2	G	T	T	47	47	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179544074	179544074	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179544074G>A	uc010zfg.1	-	139	30226	c.30002C>T	c.(30001-30003)CCA>CTA	p.P10001L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6662L|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10928							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	179544074	179544074	17290	2	G	A	A	47	47	TTN	A	2	2
TTN	7273	broad.mit.edu	37	2	179623783	179623783	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179623783C>T	uc010zfg.1	-	44	10455	c.10231G>A	c.(10231-10233)GAA>AAA	p.E3411K	TTN_uc010zfh.1_Missense_Mutation_p.E3365K|TTN_uc010zfi.1_Missense_Mutation_p.E3365K|TTN_uc010zfj.1_Missense_Mutation_p.E3365K|TTN_uc002umz.1_Missense_Mutation_p.E72K|TTN_uc002unb.2_Missense_Mutation_p.E3411K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	179623783	179623783	17290	2	C	T	T	29	29	TTN	T	2	2
ZSWIM2	151112	broad.mit.edu	37	2	187712502	187712502	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187712502G>C	uc002upu.1	-	2	226	c.186C>G	c.(184-186)CAC>CAG	p.H62Q		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM domain containing 2	62	SWIM-type.				apoptosis		zinc ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)															---	---	---	---	capture		Missense_Mutation	SNP	187712502	187712502	18845	2	G	C	C	40	40	ZSWIM2	C	3	3
MAP2	4133	broad.mit.edu	37	2	210558495	210558495	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210558495A>C	uc002vde.1	+	7	1849	c.1601A>C	c.(1600-1602)CAG>CCG	p.Q534P	MAP2_uc002vdc.1_Missense_Mutation_p.Q534P|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.Q530P	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	534					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---	capture		Missense_Mutation	SNP	210558495	210558495	9618	2	A	C	C	7	7	MAP2	C	4	4
ZNF142	7701	broad.mit.edu	37	2	219508903	219508903	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219508903C>A	uc002vin.2	-	8	2772	c.2336G>T	c.(2335-2337)TGG>TTG	p.W779L	ZNF142_uc002vil.2_Missense_Mutation_p.W740L|ZNF142_uc010fvt.2_Missense_Mutation_p.W616L|ZNF142_uc002vim.2_Missense_Mutation_p.W616L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	zinc finger protein 142	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)														---	---	---	---	capture		Missense_Mutation	SNP	219508903	219508903	18322	2	C	A	A	21	21	ZNF142	A	2	2
COL6A3	1293	broad.mit.edu	37	2	238275650	238275650	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238275650C>A	uc002vwl.2	-	11	5465	c.5180G>T	c.(5179-5181)CGG>CTG	p.R1727L	COL6A3_uc002vwo.2_Missense_Mutation_p.R1521L|COL6A3_uc010znj.1_Missense_Mutation_p.R1120L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1727	VWFA 9.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---	capture		Missense_Mutation	SNP	238275650	238275650	3839	2	C	A	A	23	23	COL6A3	A	1	1
ANKMY1	51281	broad.mit.edu	37	2	241494343	241494343	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241494343C>A	uc002vyz.1	-	2	238	c.9G>T	c.(7-9)CAG>CAT	p.Q3H	ANKMY1_uc002vza.1_Missense_Mutation_p.Q92H|ANKMY1_uc010fzd.1_Missense_Mutation_p.Q92H|ANKMY1_uc002vzb.1_Missense_Mutation_p.Q92H|ANKMY1_uc002vzc.1_Missense_Mutation_p.Q92H|ANKMY1_uc002vzd.1_Missense_Mutation_p.Q92H|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Translation_Start_Site|ANKMY1_uc002vzf.2_Translation_Start_Site	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	3	MORN 1.						zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)														---	---	---	---	capture		Missense_Mutation	SNP	241494343	241494343	637	2	C	A	A	24	24	ANKMY1	A	2	2
ANKRD5	63926	broad.mit.edu	37	20	10036305	10036305	+	Silent	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10036305C>G	uc002wno.2	+	11	2721	c.2328C>G	c.(2326-2328)ACC>ACG	p.T776T	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.T776T|ANKRD5_uc010gbz.2_Silent_p.T587T	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	776							calcium ion binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Silent	SNP	10036305	10036305	684	20	C	G	G	24	24	ANKRD5	G	3	3
SPTLC3	55304	broad.mit.edu	37	20	13055086	13055086	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13055086C>A	uc002wod.1	+	4	837	c.548C>A	c.(547-549)ACA>AAA	p.T183K		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	183					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	13055086	13055086	15639	20	C	A	A	17	17	SPTLC3	A	2	2
C20orf26	26074	broad.mit.edu	37	20	20177290	20177290	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20177290G>T	uc002wru.2	+	16	1743	c.1667G>T	c.(1666-1668)GGG>GTG	p.G556V	C20orf26_uc010zse.1_Missense_Mutation_p.G536V	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	556										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)														---	---	---	---	capture		Missense_Mutation	SNP	20177290	20177290	2186	20	G	T	T	43	43	C20orf26	T	2	2
CST11	140880	broad.mit.edu	37	20	23432461	23432461	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23432461G>A	uc002wtf.1	-	2	359	c.325C>T	c.(325-327)CTT>TTT	p.L109F	CST11_uc002wtg.1_Intron	NM_130794	NP_570612	Q9H112	CST11_HUMAN	cystatin 11 isoform 1 precursor	109					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)																	---	---	---	---	capture		Missense_Mutation	SNP	23432461	23432461	4112	20	G	A	A	34	34	CST11	A	2	2
TMEM90B	79953	broad.mit.edu	37	20	24523810	24523810	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:24523810T>C	uc002wtw.1	+	2	710	c.77T>C	c.(76-78)ATT>ACT	p.I26T		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	26	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	24523810	24523810	16759	20	T	C	C	52	52	TMEM90B	C	4	4
ASXL1	171023	broad.mit.edu	37	20	30956828	30956828	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30956828C>A	uc002wxs.2	+	3	580	c.154C>A	c.(154-156)CCT>ACT	p.P52T	ASXL1_uc002wxr.1_RNA|ASXL1_uc002wxt.2_RNA|ASXL1_uc010geb.2_5'UTR	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	52					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248								F|N|Mis		MDS|CMML								---	---	---	---	capture		Missense_Mutation	SNP	30956828	30956828	1085	20	C	A	A	22	22	ASXL1	A	2	2
ASXL1	171023	broad.mit.edu	37	20	31016012	31016012	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31016012G>T	uc002wxs.2	+	4	760	c.334G>T	c.(334-336)GGG>TGG	p.G112W	ASXL1_uc002wxr.1_RNA|ASXL1_uc010geb.2_Missense_Mutation_p.G54W	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	112					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248								F|N|Mis		MDS|CMML								---	---	---	---	capture		Missense_Mutation	SNP	31016012	31016012	1085	20	G	T	T	47	47	ASXL1	T	2	2
KIAA0406	9675	broad.mit.edu	37	20	36642218	36642218	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36642218T>C	uc002xhl.2	-	3	210	c.1A>G	c.(1-3)ATG>GTG	p.M1V	KIAA0406_uc002xhm.2_Missense_Mutation_p.M1V	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	1							binding				0		Myeloproliferative disorder(115;0.00874)																---	---	---	---	capture		Missense_Mutation	SNP	36642218	36642218	8480	20	T	C	C	52	52	KIAA0406	C	4	4
BPI	671	broad.mit.edu	37	20	36946843	36946843	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36946843C>T	uc002xib.2	+	6	703	c.641C>T	c.(640-642)TCC>TTC	p.S214F		NM_001725	NP_001716	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	214					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			ovary(4)	4		Myeloproliferative disorder(115;0.00878)																---	---	---	---	capture		Missense_Mutation	SNP	36946843	36946843	1518	20	C	T	T	30	30	BPI	T	2	2
RALGAPB	57148	broad.mit.edu	37	20	37146564	37146564	+	Silent	SNP	C	G	G	rs148846201	by1000genomes	TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37146564C>G	uc002xiw.2	+	9	1595	c.1338C>G	c.(1336-1338)CTC>CTG	p.L446L	RALGAPB_uc010zvz.1_Silent_p.L446L|RALGAPB_uc002xix.2_Silent_p.L446L|RALGAPB_uc002xiy.1_Silent_p.L446L|RALGAPB_uc002xiz.2_Silent_p.L224L|RALGAPB_uc002xja.1_Silent_p.L173L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	446					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	37146564	37146564	13475	20	C	G	G	32	32	RALGAPB	G	3	3
ADNP	23394	broad.mit.edu	37	20	49509695	49509695	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49509695G>A	uc002xvt.1	-	5	1901	c.1556C>T	c.(1555-1557)TCA>TTA	p.S519L	ADNP_uc002xvu.1_Missense_Mutation_p.S519L	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	519	C2H2-type 7.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	49509695	49509695	324	20	G	A	A	45	45	ADNP	A	2	2
SALL4	57167	broad.mit.edu	37	20	50407024	50407024	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50407024C>A	uc002xwh.3	-	2	2099	c.1998G>T	c.(1996-1998)ACG>ACT	p.T666T	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	666					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	50407024	50407024	14293	20	C	A	A	23	23	SALL4	A	1	1
PHACTR3	116154	broad.mit.edu	37	20	58330363	58330363	+	Missense_Mutation	SNP	C	T	T	rs145693547		TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58330363C>T	uc002yau.2	+	4	952	c.485C>T	c.(484-486)ACG>ATG	p.T162M	PHACTR3_uc002yat.2_Missense_Mutation_p.T159M|PHACTR3_uc010zzw.1_Missense_Mutation_p.T121M|PHACTR3_uc002yav.2_Missense_Mutation_p.T121M|PHACTR3_uc002yaw.2_Missense_Mutation_p.T121M|PHACTR3_uc002yax.2_Missense_Mutation_p.T121M	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	162						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)															---	---	---	---	capture		Missense_Mutation	SNP	58330363	58330363	12234	20	C	T	T	19	19	PHACTR3	T	1	1
TPTE	7179	broad.mit.edu	37	21	10906916	10906916	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:10906916C>A	uc002yip.1	-	24	2013	c.1645G>T	c.(1645-1647)GGA>TGA	p.G549*	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Nonsense_Mutation_p.G531*|TPTE_uc002yir.1_Nonsense_Mutation_p.G511*|TPTE_uc010gkv.1_Nonsense_Mutation_p.G411*	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	549					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			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)														---	---	---	---	capture		Nonsense_Mutation	SNP	10906916	10906916	16974	21	C	A	A	21	21	TPTE	A	5	2
TPTE	7179	broad.mit.edu	37	21	10906937	10906937	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:10906937T>A	uc002yip.1	-	24	1992	c.1624A>T	c.(1624-1626)ACT>TCT	p.T542S	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.T524S|TPTE_uc002yir.1_Missense_Mutation_p.T504S|TPTE_uc010gkv.1_Missense_Mutation_p.T404S	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	542					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			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)														---	---	---	---	capture		Missense_Mutation	SNP	10906937	10906937	16974	21	T	A	A	58	58	TPTE	A	4	4
KRTAP11-1	337880	broad.mit.edu	37	21	32253731	32253731	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32253731C>A	uc002yov.2	-	1	144	c.113G>T	c.(112-114)GGC>GTC	p.G38V		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	38						keratin filament	structural molecule activity			pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	32253731	32253731	8832	21	C	A	A	26	26	KRTAP11-1	A	2	2
GART	2618	broad.mit.edu	37	21	34904752	34904752	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34904752G>T	uc002yrx.2	-	5	562	c.427C>A	c.(427-429)CCT>ACT	p.P143T	GART_uc002yrz.2_Missense_Mutation_p.P143T|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Missense_Mutation_p.P143T|GART_uc002ysa.2_Missense_Mutation_p.P143T	NM_000819	NP_000810	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase,	143	ATP (By similarity).|ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)													---	---	---	---	capture		Missense_Mutation	SNP	34904752	34904752	6507	21	G	T	T	43	43	GART	T	2	2
DYRK1A	1859	broad.mit.edu	37	21	38877629	38877629	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38877629G>C	uc002ywk.2	+	9	1358	c.1283G>C	c.(1282-1284)GGA>GCA	p.G428A	DYRK1A_uc002ywi.2_Missense_Mutation_p.G428A|DYRK1A_uc002ywj.2_Missense_Mutation_p.G419A|DYRK1A_uc002ywl.2_Missense_Mutation_p.G428A|DYRK1A_uc002ywm.2_Missense_Mutation_p.G428A|DYRK1A_uc011aei.1_Missense_Mutation_p.G189A	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	428	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			ovary(2)|lung(1)|breast(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	38877629	38877629	5040	21	G	C	C	41	41	DYRK1A	C	3	3
ZNF295	49854	broad.mit.edu	37	21	43412128	43412128	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43412128G>A	uc002zab.3	-	3	2291	c.2077C>T	c.(2077-2079)CCA>TCA	p.P693S	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.P693S|ZNF295_uc002zaa.3_Missense_Mutation_p.P693S	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	693					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	43412128	43412128	18419	21	G	A	A	41	41	ZNF295	A	2	2
UBASH3A	53347	broad.mit.edu	37	21	43867227	43867227	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43867227G>C	uc002zbe.2	+	15	1945	c.1909G>C	c.(1909-1911)GTG>CTG	p.V637L	UBASH3A_uc002zbf.2_Missense_Mutation_p.V599L|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.W526C	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	637	Phosphatase-like.					cytosol|nucleus				ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	43867227	43867227	17396	21	G	C	C	44	44	UBASH3A	C	3	3
ITGB2	3689	broad.mit.edu	37	21	46309233	46309233	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46309233C>A	uc002zgd.2	-	12	1879	c.1835G>T	c.(1834-1836)TGC>TTC	p.C612F	ITGB2_uc002zge.2_Missense_Mutation_p.C612F|ITGB2_uc002zgf.3_Missense_Mutation_p.C612F|ITGB2_uc011afl.1_Missense_Mutation_p.C534F|ITGB2_uc010gpw.2_Missense_Mutation_p.C555F|ITGB2_uc002zgg.2_Missense_Mutation_p.C612F	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	612	Extracellular (Potential).|Cysteine-rich tandem repeats.|IV.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)													---	---	---	---	capture		Missense_Mutation	SNP	46309233	46309233	8198	21	C	A	A	25	25	ITGB2	A	2	2
PCNT	5116	broad.mit.edu	37	21	47754668	47754668	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47754668G>T	uc002zji.3	+	3	732	c.625G>T	c.(625-627)GGG>TGG	p.G209W	PCNT_uc002zjj.2_Missense_Mutation_p.G91W|PCNT_uc010gqk.1_RNA	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	209					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)																	---	---	---	---	capture		Missense_Mutation	SNP	47754668	47754668	12010	21	G	T	T	47	47	PCNT	T	2	2
IL17RA	23765	broad.mit.edu	37	22	17583061	17583061	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17583061A>T	uc002zly.2	+	7	764	c.631A>T	c.(631-633)ACC>TCC	p.T211S	IL17RA_uc010gqt.2_Missense_Mutation_p.T211S	NM_014339	NP_055154	Q96F46	I17RA_HUMAN	interleukin 17A receptor precursor	211	Extracellular (Potential).				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			skin(2)	2		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)														---	---	---	---	capture		Missense_Mutation	SNP	17583061	17583061	7940	22	A	T	T	10	10	IL17RA	T	4	4
ZNF70	7621	broad.mit.edu	37	22	24086472	24086472	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24086472C>A	uc002zxs.2	-	2	1317	c.856G>T	c.(856-858)GGG>TGG	p.G286W	ZNF70_uc002zxr.1_5'Flank	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	286	C2H2-type 6.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	24086472	24086472	18698	22	C	A	A	21	21	ZNF70	A	2	2
MYO18B	84700	broad.mit.edu	37	22	26270319	26270319	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26270319A>G	uc003abz.1	+	23	4268	c.4018A>G	c.(4018-4020)ATC>GTC	p.I1340V	MYO18B_uc003aca.1_Missense_Mutation_p.I1221V|MYO18B_uc010guy.1_Missense_Mutation_p.I1222V|MYO18B_uc010guz.1_Missense_Mutation_p.I1221V|MYO18B_uc011aka.1_Missense_Mutation_p.I494V|MYO18B_uc011akb.1_Missense_Mutation_p.I853V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1340	IQ.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12																		---	---	---	---	capture		Missense_Mutation	SNP	26270319	26270319	10461	22	A	G	G	8	8	MYO18B	G	4	4
ASCC2	84164	broad.mit.edu	37	22	30189468	30189468	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30189468C>T	uc003agr.2	-	17	1905	c.1800G>A	c.(1798-1800)CAG>CAA	p.Q600Q	ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Silent_p.Q600Q|ASCC2_uc011akr.1_Silent_p.Q524Q	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent						0			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)															---	---	---	---	capture		Silent	SNP	30189468	30189468	1050	22	C	T	T	28	28	ASCC2	T	2	2
SYN3	8224	broad.mit.edu	37	22	33260987	33260987	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:33260987G>T	uc003amx.2	-	5	785	c.626C>A	c.(625-627)TCT>TAT	p.S209Y	SYN3_uc003amy.2_Missense_Mutation_p.S209Y|SYN3_uc003amz.2_Missense_Mutation_p.S208Y	NM_003490	NP_003481	O14994	SYN3_HUMAN	synapsin III isoform IIIa	209	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	33260987	33260987	15963	22	G	T	T	33	33	SYN3	T	2	2
TST	7263	broad.mit.edu	37	22	37407247	37407247	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37407247C>G	uc003aqg.2	-	2	1415	c.715G>C	c.(715-717)GAT>CAT	p.D239H	TST_uc003aqh.2_Missense_Mutation_p.D239H	NM_003312	NP_003303	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase	239	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	37407247	37407247	17226	22	C	G	G	30	30	TST	G	3	3
TRIOBP	11078	broad.mit.edu	37	22	38120492	38120492	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38120492C>A	uc003atr.2	+	7	2200	c.1929C>A	c.(1927-1929)ACC>ACA	p.T643T	TRIOBP_uc003atu.2_Silent_p.T471T|TRIOBP_uc003atq.1_Silent_p.T643T|TRIOBP_uc003ats.1_Silent_p.T471T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	643					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)																	---	---	---	---	capture		Silent	SNP	38120492	38120492	17103	22	C	A	A	22	22	TRIOBP	A	2	2
PLA2G6	8398	broad.mit.edu	37	22	38524296	38524296	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38524296G>A	uc003auy.1	-	9	1464	c.1328C>T	c.(1327-1329)CCG>CTG	p.P443L	PLA2G6_uc003auz.1_Intron|PLA2G6_uc003ava.1_Missense_Mutation_p.P443L|PLA2G6_uc003avb.2_Intron|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.P408L	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	443					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)													---	---	---	---	capture		Missense_Mutation	SNP	38524296	38524296	12434	22	G	A	A	39	39	PLA2G6	A	1	1
MGAT3	4248	broad.mit.edu	37	22	39884666	39884666	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39884666C>T	uc003axv.3	+	2	1553	c.1314C>T	c.(1312-1314)GGC>GGT	p.G438G	MGAT3_uc010gxy.2_Silent_p.G438G	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein	438	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)																	---	---	---	---	capture		Silent	SNP	39884666	39884666	9934	22	C	T	T	27	27	MGAT3	T	1	1
XPNPEP3	63929	broad.mit.edu	37	22	41318337	41318337	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41318337G>T	uc003azh.2	+	8	1148	c.1056G>T	c.(1054-1056)AGG>AGT	p.R352S	XPNPEP3_uc003azi.2_Missense_Mutation_p.R273S|XPNPEP3_uc011aoy.1_RNA	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	352					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	41318337	41318337	18027	22	G	T	T	44	44	XPNPEP3	T	2	2
PPPDE2	27351	broad.mit.edu	37	22	42000067	42000067	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42000067G>T	uc003ban.1	-	4	344	c.271C>A	c.(271-273)CTG>ATG	p.L91M	PPPDE2_uc011apb.1_RNA	NM_015704	NP_056519	Q6ICB0	PPDE2_HUMAN	PPPDE peptidase domain containing 2	91	PPPDE peptidase.										0																		---	---	---	---	capture		Missense_Mutation	SNP	42000067	42000067	12845	22	G	T	T	35	35	PPPDE2	T	2	2
NAGA	4668	broad.mit.edu	37	22	42456338	42456338	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42456338C>A	uc003bbx.2	-	10	1318	c.1181G>T	c.(1180-1182)GGG>GTG	p.G394V	NAGA_uc003bby.2_Missense_Mutation_p.G394V|NAGA_uc003bbw.3_Missense_Mutation_p.G394V	NM_000262	NP_000253	P17050	NAGAB_HUMAN	alpha-N-acetylgalactosaminidase precursor	394					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	42456338	42456338	10537	22	C	A	A	22	22	NAGA	A	2	2
PPARA	5465	broad.mit.edu	37	22	46627709	46627709	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46627709G>T	uc003bgw.1	+	8	998	c.732G>T	c.(730-732)ATG>ATT	p.M244I	PPARA_uc003bgx.1_Missense_Mutation_p.M244I|PPARA_uc010hab.1_Missense_Mutation_p.M244I|PPARA_uc003bhb.1_Missense_Mutation_p.M244I|PPARA_uc010hac.1_Missense_Mutation_p.M41I	NM_005036	NP_005027	Q07869	PPARA_HUMAN	peroxisome proliferative activated receptor,	244					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)													---	---	---	---	capture		Missense_Mutation	SNP	46627709	46627709	12727	22	G	T	T	47	47	PPARA	T	2	2
CELSR1	9620	broad.mit.edu	37	22	46760592	46760592	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46760592G>A	uc003bhw.1	-	33	8596	c.8596C>T	c.(8596-8598)CAG>TAG	p.Q2866*		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2866	Cytoplasmic (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---	capture		Nonsense_Mutation	SNP	46760592	46760592	3354	22	G	A	A	47	47	CELSR1	A	5	2
CELSR1	9620	broad.mit.edu	37	22	46832148	46832148	+	Missense_Mutation	SNP	T	C	C	rs75709433		TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46832148T>C	uc003bhw.1	-	4	4445	c.4445A>G	c.(4444-4446)AAC>AGC	p.N1482S		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1482	Extracellular (Potential).|Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---	capture		Missense_Mutation	SNP	46832148	46832148	3354	22	T	C	C	60	60	CELSR1	C	4	4
CNTN6	27255	broad.mit.edu	37	3	1363343	1363343	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1363343C>T	uc003boz.2	+	8	1038	c.771C>T	c.(769-771)CCC>CCT	p.P257P	CNTN6_uc011asj.1_Silent_p.P185P|CNTN6_uc003bpa.2_Silent_p.P257P	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	257	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---	capture		Silent	SNP	1363343	1363343	3783	3	C	T	T	23	23	CNTN6	T	1	1
TMEM40	55287	broad.mit.edu	37	3	12780076	12780076	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12780076C>A	uc003bxg.1	-	6	494	c.367G>T	c.(367-369)GAG>TAG	p.E123*	TMEM40_uc003bxh.1_Nonsense_Mutation_p.E93*|TMEM40_uc003bxi.1_Nonsense_Mutation_p.E47*|TMEM40_uc011auv.1_Nonsense_Mutation_p.E139*	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	123						integral to membrane					0																		---	---	---	---	capture		Nonsense_Mutation	SNP	12780076	12780076	16702	3	C	A	A	32	32	TMEM40	A	5	2
SATB1	6304	broad.mit.edu	37	3	18390986	18390986	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:18390986C>A	uc003cbh.2	-	11	3703	c.1968G>T	c.(1966-1968)TTG>TTT	p.L656F	SATB1_uc003cbi.2_Missense_Mutation_p.L688F|SATB1_uc003cbj.2_Missense_Mutation_p.L656F	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	656	Homeobox.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	18390986	18390986	14334	3	C	A	A	21	21	SATB1	A	2	2
GLB1	2720	broad.mit.edu	37	3	33109729	33109729	+	Silent	SNP	G	A	A	rs140353187	by1000genomes	TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33109729G>A	uc003cfi.1	-	4	567	c.450C>T	c.(448-450)TCC>TCT	p.S150S	GLB1_uc003cfh.1_Silent_p.S120S|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Silent_p.S198S	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	150					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)																---	---	---	---	capture		Silent	SNP	33109729	33109729	6695	3	G	A	A	39	39	GLB1	A	1	1
CTNNB1	1499	broad.mit.edu	37	3	41266094	41266094	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:41266094C>A	uc010hia.1	+	4	247	c.91C>A	c.(91-93)CTG>ATG	p.L31M	CTNNB1_uc003ckp.2_Missense_Mutation_p.L31M|CTNNB1_uc003ckq.2_Missense_Mutation_p.L31M|CTNNB1_uc003ckr.2_Missense_Mutation_p.L31M|CTNNB1_uc011azf.1_Missense_Mutation_p.L24M|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	31			Missing (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_A80del(63)|p.H24_S47del(9)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.L31L(4)|p.W25_D32del(4)|p.W25_I140del(4)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.W25_H36del(2)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.A5_Q72del(1)|p.S29_H36del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.E9_S47del(1)|p.A5_G80>(1)|p.A20_N141del(1)|p.M8_G50del(1)|p.M1_A87del(1)|p.L31W(1)|p.D11_Y142>H(1)|p.D6_A43del(1)|p.A5_D144>D(1)|p.A5_T42del(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.V22_G80>NNNNN(1)|p.H24_L31del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.D6_K133del(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.L31Q(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.W25_A80del(1)|p.A5_R90del(1)|p.S23_A39del(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A20_R151del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.E9_A80del(1)|p.K19_Y142>V(1)|p.A5_E54del(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_Q72del(1)|p.D6_I140del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.Q28_I140del(1)|p.D17_A126del(1)|p.M1_T42del(1)|p.A5_I35del(1)|p.S23_I140del(1)|p.L7_I140del(1)	CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				---	---	---	---	capture		Missense_Mutation	SNP	41266094	41266094	4175	3	C	A	A	24	24	CTNNB1	A	2	2
ZNF502	91392	broad.mit.edu	37	3	44763768	44763768	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44763768G>T	uc011baa.1	+	4	1714	c.1459G>T	c.(1459-1461)GGT>TGT	p.G487C	ZNF502_uc003cns.2_Missense_Mutation_p.G487C|ZNF502_uc011bab.1_Missense_Mutation_p.G487C|ZNF502_uc003cnt.2_Missense_Mutation_p.G487C	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)														---	---	---	---	capture		Missense_Mutation	SNP	44763768	44763768	18544	3	G	T	T	47	47	ZNF502	T	2	2
NBEAL2	23218	broad.mit.edu	37	3	47030752	47030752	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47030752G>T	uc003cqp.2	+	5	533	c.354G>T	c.(352-354)CTG>CTT	p.L118L	NBEAL2_uc003cqq.1_Silent_p.L111L	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	118							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)														---	---	---	---	capture		Silent	SNP	47030752	47030752	10585	3	G	T	T	45	45	NBEAL2	T	2	2
P4HTM	54681	broad.mit.edu	37	3	49044337	49044337	+	Silent	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49044337C>G	uc003cvg.2	+	9	1855	c.1506C>G	c.(1504-1506)CTC>CTG	p.L502L	P4HTM_uc003cvh.2_Silent_p.L563L|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN	hypoxia-inducible factor prolyl 4-hydroxylase	502	Lumenal (Potential).					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			skin(1)|pancreas(1)	2					Vitamin C(DB00126)													---	---	---	---	capture		Silent	SNP	49044337	49044337	11773	3	C	G	G	32	32	P4HTM	G	3	3
IMPDH2	3615	broad.mit.edu	37	3	49065169	49065169	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49065169C>T	uc003cvt.2	-	5	597	c.505G>A	c.(505-507)GAG>AAG	p.E169K		NM_000884	NP_000875	P12268	IMDH2_HUMAN	inosine monophosphate dehydrogenase 2	169	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	49065169	49065169	8028	3	C	T	T	30	30	IMPDH2	T	2	2
GRM2	2912	broad.mit.edu	37	3	51746554	51746554	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51746554G>T	uc010hlv.2	+	3	755	c.516G>T	c.(514-516)CTG>CTT	p.L172L	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	172	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)													---	---	---	---	capture		Silent	SNP	51746554	51746554	7076	3	G	T	T	45	45	GRM2	T	2	2
IQCF2	389123	broad.mit.edu	37	3	51897351	51897351	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51897351C>T	uc003dbt.1	+	3	498	c.460C>T	c.(460-462)CAC>TAC	p.H154Y	IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	154											0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)														---	---	---	---	capture		Missense_Mutation	SNP	51897351	51897351	8109	3	C	T	T	29	29	IQCF2	T	2	2
ITIH1	3697	broad.mit.edu	37	3	52813520	52813520	+	Missense_Mutation	SNP	G	C	C	rs35394357	byFrequency;by1000genomes	TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52813520G>C	uc003dfs.2	+	5	507	c.483G>C	c.(481-483)CAG>CAC	p.Q161H	ITIH1_uc010hmn.1_RNA	NM_002215	NP_002206	P19827	ITIH1_HUMAN	inter-alpha (globulin) inhibitor H1	161	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)														---	---	---	---	capture		Missense_Mutation	SNP	52813520	52813520	8207	3	G	C	C	34	34	ITIH1	C	3	3
PRKCD	5580	broad.mit.edu	37	3	53223900	53223900	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53223900G>T	uc003dgl.2	+	18	2108	c.1755G>T	c.(1753-1755)AGG>AGT	p.R585S	PRKCD_uc003dgm.2_Missense_Mutation_p.R585S	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	585	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)														---	---	---	---	capture		Missense_Mutation	SNP	53223900	53223900	12952	3	G	T	T	43	43	PRKCD	T	2	2
TKT	7086	broad.mit.edu	37	3	53275207	53275207	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53275207C>A	uc003dgo.2	-	3	390	c.280G>T	c.(280-282)GAG>TAG	p.E94*	TKT_uc011beo.1_Nonsense_Mutation_p.E47*|TKT_uc003dgq.2_Nonsense_Mutation_p.E94*|TKT_uc011beq.1_Nonsense_Mutation_p.E94*|TKT_uc011ber.1_5'UTR|TKT_uc011bep.1_Intron	NM_001135055	NP_001128527	P29401	TKT_HUMAN	transketolase isoform 1	94					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			ovary(2)	2		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)													---	---	---	---	capture		Nonsense_Mutation	SNP	53275207	53275207	16463	3	C	A	A	31	31	TKT	A	5	1
SYNPR	132204	broad.mit.edu	37	3	63600977	63600977	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:63600977G>T	uc003dlq.2	+	5	987	c.618G>T	c.(616-618)TCG>TCT	p.S206S	SYNPR_uc003dlp.2_Silent_p.S226S|SYNPR_uc011bfk.1_RNA|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Silent_p.S215S|SYNPR_uc011bfm.1_RNA	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN	synaptoporin isoform 2	206	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)														---	---	---	---	capture		Silent	SNP	63600977	63600977	15980	3	G	T	T	39	39	SYNPR	T	1	1
EPHA3	2042	broad.mit.edu	37	3	89462338	89462338	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89462338G>T	uc003dqy.2	+	10	2035	c.1810G>T	c.(1810-1812)GAC>TAC	p.D604Y	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	604	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---	capture		Missense_Mutation	SNP	89462338	89462338	5361	3	G	T	T	33	33	EPHA3	T	2	2
GPR128	84873	broad.mit.edu	37	3	100373724	100373724	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100373724C>T	uc003duc.2	+	12	1693	c.1425C>T	c.(1423-1425)TGC>TGT	p.C475C	GPR128_uc011bhc.1_Silent_p.C176C|GPR128_uc003dud.2_5'UTR	NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	475	Helical; Name=2; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4																		---	---	---	---	capture		Silent	SNP	100373724	100373724	6915	3	C	T	T	25	25	GPR128	T	2	2
FAM55C	91775	broad.mit.edu	37	3	101520716	101520716	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101520716G>T	uc003dvn.2	+	5	1368	c.731G>T	c.(730-732)GGG>GTG	p.G244V	FAM55C_uc010hpn.2_Missense_Mutation_p.G244V	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	244						extracellular region				ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	101520716	101520716	5808	3	G	T	T	43	43	FAM55C	T	2	2
FAM55C	91775	broad.mit.edu	37	3	101540798	101540798	+	Nonstop_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101540798G>T	uc003dvn.2	+	8	2317	c.1680G>T	c.(1678-1680)TAG>TAT	p.*560Y	FAM55C_uc010hpn.2_Nonstop_Mutation_p.*560Y	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	hypothetical protein LOC91775 precursor	560						extracellular region				ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Nonstop_Mutation	SNP	101540798	101540798	5808	3	G	T	T	34	34	FAM55C	T	5	2
MYH15	22989	broad.mit.edu	37	3	108163569	108163569	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108163569G>A	uc003dxa.1	-	23	2690	c.2633C>T	c.(2632-2634)TCA>TTA	p.S878L		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	878	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7																		---	---	---	---	capture		Missense_Mutation	SNP	108163569	108163569	10429	3	G	A	A	45	45	MYH15	A	2	2
CD96	10225	broad.mit.edu	37	3	111296348	111296348	+	Splice_Site	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111296348G>T	uc003dxw.2	+	4	714	c.544_splice	c.e4-1	p.E182_splice	CD96_uc003dxv.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_198196	NP_937839			CD96 antigen isoform 1 precursor						cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3														Opitz_Trigonocephaly_syndrome				---	---	---	---	capture		Splice_Site	SNP	111296348	111296348	3176	3	G	T	T	35	35	CD96	T	5	2
PLCXD2	257068	broad.mit.edu	37	3	111427219	111427219	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111427219G>A	uc003dya.2	+	2	1196	c.610G>A	c.(610-612)GAG>AAG	p.E204K	PLCXD2_uc003dyb.2_Missense_Mutation_p.E204K|PLCXD2_uc003dxz.2_Missense_Mutation_p.E204K	NM_001134478	NP_001127950	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X	204	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	111427219	111427219	12468	3	G	A	A	41	41	PLCXD2	A	2	2
PHLDB2	90102	broad.mit.edu	37	3	111603433	111603433	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111603433G>C	uc010hqa.2	+	2	920	c.509G>C	c.(508-510)CGG>CCG	p.R170P	PHLDB2_uc003dyc.2_Missense_Mutation_p.R197P|PHLDB2_uc003dyd.2_Missense_Mutation_p.R170P|PHLDB2_uc003dyg.2_Missense_Mutation_p.R170P|PHLDB2_uc003dyh.2_Missense_Mutation_p.R170P|PHLDB2_uc003dye.3_Missense_Mutation_p.R170P|PHLDB2_uc003dyf.3_Missense_Mutation_p.R170P	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	170						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6																		---	---	---	---	capture		Missense_Mutation	SNP	111603433	111603433	12276	3	G	C	C	39	39	PHLDB2	C	3	3
ADPRH	141	broad.mit.edu	37	3	119306567	119306567	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119306567A>G	uc003ecs.2	+	5	1214	c.916A>G	c.(916-918)ACA>GCA	p.T306A	ADPRH_uc010hqv.2_Missense_Mutation_p.T306A|ADPRH_uc011bjb.1_Missense_Mutation_p.T199A|ADPRH_uc003ect.2_Missense_Mutation_p.T306A	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	306					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)														---	---	---	---	capture		Missense_Mutation	SNP	119306567	119306567	332	3	A	G	G	14	14	ADPRH	G	4	4
GSK3B	2932	broad.mit.edu	37	3	119624639	119624639	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119624639C>A	uc003edo.2	-	7	1759	c.776G>T	c.(775-777)GGG>GTG	p.G259V	GSK3B_uc003edn.2_Missense_Mutation_p.G259V	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta isoform 2	259	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			lung(2)	2				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)													---	---	---	---	capture		Missense_Mutation	SNP	119624639	119624639	7104	3	C	A	A	22	22	GSK3B	A	2	2
ARGFX	503582	broad.mit.edu	37	3	121305099	121305099	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121305099C>A	uc003eef.2	+	5	695	c.600C>A	c.(598-600)ACC>ACA	p.T200T		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	200						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(114;0.152)														---	---	---	---	capture		Silent	SNP	121305099	121305099	870	3	C	A	A	21	21	ARGFX	A	2	2
FBXO40	51725	broad.mit.edu	37	3	121341598	121341598	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121341598G>T	uc003eeg.2	+	3	1532	c.1322G>T	c.(1321-1323)GGG>GTG	p.G441V		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	441					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)														---	---	---	---	capture		Missense_Mutation	SNP	121341598	121341598	5986	3	G	T	T	43	43	FBXO40	T	2	2
GOLGB1	2804	broad.mit.edu	37	3	121414463	121414463	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121414463C>A	uc003eei.3	-	13	5018	c.4892G>T	c.(4891-4893)AGG>ATG	p.R1631M	GOLGB1_uc010hrc.2_Missense_Mutation_p.R1636M|GOLGB1_uc003eej.3_Missense_Mutation_p.R1597M|GOLGB1_uc011bjm.1_Missense_Mutation_p.R1517M|GOLGB1_uc010hrd.1_Missense_Mutation_p.R1595M	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	golgi autoantigen, golgin subfamily b,	1631	Cytoplasmic (Potential).|Potential.				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			ovary(6)|breast(2)|skin(2)	10				GBM - Glioblastoma multiforme(114;0.0989)														---	---	---	---	capture		Missense_Mutation	SNP	121414463	121414463	6838	3	C	A	A	24	24	GOLGB1	A	2	2
SLC15A2	6565	broad.mit.edu	37	3	121658283	121658283	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121658283C>A	uc003eep.2	+	20	2002	c.1849C>A	c.(1849-1851)CTG>ATG	p.L617M	SLC15A2_uc011bjn.1_Missense_Mutation_p.L586M	NM_021082	NP_066568	Q16348	S15A2_HUMAN	peptide transporter 2 isoform a	617	Helical; (Potential).				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)													---	---	---	---	capture		Missense_Mutation	SNP	121658283	121658283	14894	3	C	A	A	24	24	SLC15A2	A	2	2
TMEM108	66000	broad.mit.edu	37	3	133098900	133098900	+	Silent	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133098900A>G	uc003eph.2	+	4	619	c.345A>G	c.(343-345)ACA>ACG	p.T115T	TMEM108_uc003epi.2_Silent_p.T115T|TMEM108_uc003epj.1_Silent_p.T115T|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Silent_p.T66T	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN	transmembrane protein 108 precursor	115	Pro-rich.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(2)	4																		---	---	---	---	capture		Silent	SNP	133098900	133098900	16554	3	A	G	G	7	7	TMEM108	G	4	4
TF	7018	broad.mit.edu	37	3	133478117	133478117	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133478117G>T	uc003epu.1	+	14	2875	c.1147G>T	c.(1147-1149)GGG>TGG	p.G383W	TF_uc011blt.1_Missense_Mutation_p.G256W|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.G383W	NM_001063	NP_001054	P02787	TRFE_HUMAN	transferrin precursor	383	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			ovary(1)|skin(1)	2					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)													---	---	---	---	capture		Missense_Mutation	SNP	133478117	133478117	16313	3	G	T	T	35	35	TF	T	2	2
EPHB1	2047	broad.mit.edu	37	3	134670544	134670544	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134670544G>T	uc003eqt.2	+	3	675	c.455G>T	c.(454-456)GGG>GTG	p.G152V	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.G152V	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	152	Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30																		---	---	---	---	capture		Missense_Mutation	SNP	134670544	134670544	5367	3	G	T	T	43	43	EPHB1	T	2	2
PCCB	5096	broad.mit.edu	37	3	136012597	136012597	+	Splice_Site	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136012597G>T	uc003eqy.1	+	7	706	c.655_splice	c.e7-1	p.D219_splice	PCCB_uc003eqz.1_Splice_Site_p.D219_splice|PCCB_uc011bmc.1_Splice_Site_p.D239_splice|PCCB_uc011bmd.1_Splice_Site_p.D136_splice	NM_000532	NP_000523			propionyl Coenzyme A carboxylase, beta						fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity				0					Biotin(DB00121)|L-Valine(DB00161)													---	---	---	---	capture		Splice_Site	SNP	136012597	136012597	11925	3	G	T	T	35	35	PCCB	T	5	2
ESYT3	83850	broad.mit.edu	37	3	138189783	138189783	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138189783C>A	uc003esk.2	+	17	1881	c.1655C>A	c.(1654-1656)CCC>CAC	p.P552H	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	552						integral to membrane|plasma membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	138189783	138189783	5459	3	C	A	A	22	22	ESYT3	A	2	2
RBP2	5948	broad.mit.edu	37	3	139172003	139172003	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:139172003C>A	uc003eth.2	-	4	411	c.360G>T	c.(358-360)CTG>CTT	p.L120L		NM_004164	NP_004155	P50120	RET2_HUMAN	retinol binding protein 2, cellular	120					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			skin(1)	1					Vitamin A(DB00162)													---	---	---	---	capture		Silent	SNP	139172003	139172003	13625	3	C	A	A	29	29	RBP2	A	2	2
TFDP2	7029	broad.mit.edu	37	3	141682763	141682763	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141682763C>A	uc003eun.3	-	10	1154	c.775G>T	c.(775-777)GAG>TAG	p.E259*	TFDP2_uc003euk.3_Nonsense_Mutation_p.E172*|TFDP2_uc010hur.2_Nonsense_Mutation_p.E199*|TFDP2_uc003eul.3_Nonsense_Mutation_p.E199*|TFDP2_uc011bnf.1_Nonsense_Mutation_p.E162*|TFDP2_uc011bng.1_Nonsense_Mutation_p.E123*|TFDP2_uc003eum.3_Nonsense_Mutation_p.E199*	NM_006286	NP_006277	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization	259	Dimerization (Potential).|DCB1.				cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	141682763	141682763	16326	3	C	A	A	29	29	TFDP2	A	5	2
IGSF10	285313	broad.mit.edu	37	3	151154970	151154970	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151154970G>T	uc011bod.1	-	6	7379	c.7379C>A	c.(7378-7380)CCT>CAT	p.P2460H	IGSF10_uc011bob.1_Missense_Mutation_p.P487H|IGSF10_uc011boc.1_Missense_Mutation_p.P439H	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	2460	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Missense_Mutation	SNP	151154970	151154970	7898	3	G	T	T	35	35	IGSF10	T	2	2
TTC14	151613	broad.mit.edu	37	3	180322794	180322794	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180322794A>T	uc003fkk.2	+	6	988	c.856A>T	c.(856-858)AGC>TGC	p.S286C	TTC14_uc003fkl.2_Missense_Mutation_p.S286C|TTC14_uc003fkm.2_Missense_Mutation_p.S286C	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	286							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---	capture		Missense_Mutation	SNP	180322794	180322794	17235	3	A	T	T	3	3	TTC14	T	4	4
ATP13A3	79572	broad.mit.edu	37	3	194168693	194168693	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194168693G>T	uc003fty.3	-	12	1598	c.1196C>A	c.(1195-1197)CCC>CAC	p.P399H	ATP13A3_uc003ftz.1_Missense_Mutation_p.P105H	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	ATPase type 13A3	399					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)	1	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)														---	---	---	---	capture		Missense_Mutation	SNP	194168693	194168693	1144	3	G	T	T	43	43	ATP13A3	T	2	2
PIGZ	80235	broad.mit.edu	37	3	196675077	196675077	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196675077G>C	uc003fxh.2	-	3	838	c.691C>G	c.(691-693)CTG>GTG	p.L231V		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	231	Helical; (Potential).				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			ovary(3)	3	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)														---	---	---	---	capture		Missense_Mutation	SNP	196675077	196675077	12329	3	G	C	C	33	33	PIGZ	C	3	3
MFSD7	84179	broad.mit.edu	37	4	677144	677144	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:677144G>T	uc003gay.2	-	8	1066	c.1009C>A	c.(1009-1011)CAG>AAG	p.Q337K	MFSD7_uc003gaw.2_Missense_Mutation_p.Q79K|MFSD7_uc003gax.2_Missense_Mutation_p.Q336K|MFSD7_uc003gaz.2_Missense_Mutation_p.Q218K|MFSD7_uc003gba.2_Missense_Mutation_p.Q240K|MFSD7_uc003gbb.1_Missense_Mutation_p.Q272K	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	337	Helical; (Potential).				transmembrane transport	integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	677144	677144	9927	4	G	T	T	46	46	MFSD7	T	2	2
WHSC1	7468	broad.mit.edu	37	4	1936941	1936941	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1936941G>T	uc003gdz.3	+	7	1802	c.1626G>T	c.(1624-1626)GAG>GAT	p.E542D	WHSC1_uc003geb.3_Missense_Mutation_p.E542D|WHSC1_uc003gec.3_Missense_Mutation_p.E542D|WHSC1_uc003ged.3_Missense_Mutation_p.E542D|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdy.1_Missense_Mutation_p.E542D|WHSC1_uc010icd.1_Missense_Mutation_p.E542D|WHSC1_uc003gea.1_Missense_Mutation_p.E542D|WHSC1_uc010ice.1_Missense_Mutation_p.E542D|WHSC1_uc003geh.1_Missense_Mutation_p.E542D	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	542					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)				T	IGH@	MM								---	---	---	---	capture		Missense_Mutation	SNP	1936941	1936941	17936	4	G	T	T	35	35	WHSC1	T	2	2
ZBTB49	166793	broad.mit.edu	37	4	4322746	4322746	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:4322746G>T	uc003ghu.2	+	8	2176	c.2001G>T	c.(1999-2001)CAG>CAT	p.Q667H	uc003ghw.2_5'Flank|ZBTB49_uc003ghv.2_Missense_Mutation_p.Q150H|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Missense_Mutation_p.Q245H	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	zinc finger protein 509	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	4322746	4322746	18137	4	G	T	T	35	35	ZBTB49	T	2	2
KIAA0232	9778	broad.mit.edu	37	4	6882641	6882641	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6882641G>T	uc003gjr.3	+	10	4599	c.4136G>T	c.(4135-4137)GGC>GTC	p.G1379V	KIAA0232_uc003gjq.3_Missense_Mutation_p.G1379V	NM_014743	NP_055558	Q92628	K0232_HUMAN	hypothetical protein LOC9778	1379							ATP binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	6882641	6882641	8470	4	G	T	T	42	42	KIAA0232	T	2	2
BOD1L	259282	broad.mit.edu	37	4	13602474	13602474	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13602474G>T	uc003gmz.1	-	10	6167	c.6050C>A	c.(6049-6051)CCA>CAA	p.P2017Q	BOD1L_uc010idr.1_Missense_Mutation_p.P1354Q	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2017							DNA binding			ovary(5)|breast(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	13602474	13602474	1508	4	G	T	T	47	47	BOD1L	T	2	2
GRXCR1	389207	broad.mit.edu	37	4	42895358	42895358	+	Silent	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42895358T>C	uc003gwt.2	+	1	75	c.75T>C	c.(73-75)AGT>AGC	p.S25S		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	25					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	42895358	42895358	7092	4	T	C	C	59	59	GRXCR1	C	4	4
SLAIN2	57606	broad.mit.edu	37	4	48422291	48422291	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48422291C>G	uc003gya.3	+	7	1654	c.1510C>G	c.(1510-1512)CCT>GCT	p.P504A		NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	504						centrosome					0																		---	---	---	---	capture		Missense_Mutation	SNP	48422291	48422291	14861	4	C	G	G	30	30	SLAIN2	G	3	3
KDR	3791	broad.mit.edu	37	4	55961751	55961751	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55961751G>T	uc003has.2	-	20	3112	c.2810C>A	c.(2809-2811)CCC>CAC	p.P937H	KDR_uc003hat.1_Missense_Mutation_p.P937H	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	937	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)			---	---	---	---	capture		Missense_Mutation	SNP	55961751	55961751	8445	4	G	T	T	43	43	KDR	T	2	2
LPHN3	23284	broad.mit.edu	37	4	62598664	62598664	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:62598664C>A	uc010ihh.2	+	5	760	c.587C>A	c.(586-588)CCA>CAA	p.P196Q	LPHN3_uc003hcq.3_Missense_Mutation_p.P196Q|LPHN3_uc010ihg.1_Missense_Mutation_p.P264Q|LPHN3_uc003hcs.1_Missense_Mutation_p.P25Q	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	196	Extracellular (Potential).|Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18																		---	---	---	---	capture		Missense_Mutation	SNP	62598664	62598664	9290	4	C	A	A	21	21	LPHN3	A	2	2
STATH	6779	broad.mit.edu	37	4	70866583	70866583	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70866583G>T	uc003heu.1	+	5	216	c.106G>T	c.(106-108)GGG>TGG	p.G36W	STATH_uc003hev.1_Missense_Mutation_p.G26W	NM_003154	NP_003145	P02808	STAT_HUMAN	statherin isoform a	36					biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	70866583	70866583	15791	4	G	T	T	47	47	STATH	T	2	2
ANKRD17	26057	broad.mit.edu	37	4	74021826	74021826	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74021826G>T	uc003hgp.2	-	4	879	c.762C>A	c.(760-762)CTC>CTA	p.L254L	ANKRD17_uc003hgo.2_Silent_p.L141L|ANKRD17_uc003hgq.2_Silent_p.L254L|ANKRD17_uc003hgr.2_Silent_p.L254L|ANKRD17_uc011cbd.1_5'Flank	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	254	ANK 1.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	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)															---	---	---	---	capture		Silent	SNP	74021826	74021826	649	4	G	T	T	45	45	ANKRD17	T	2	2
BMP2K	55589	broad.mit.edu	37	4	79831907	79831907	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:79831907G>T	uc003hlk.2	+	16	2372	c.2206G>T	c.(2206-2208)GGG>TGG	p.G736W	PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	736						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	79831907	79831907	1485	4	G	T	T	43	43	BMP2K	T	2	2
AFF1	4299	broad.mit.edu	37	4	87968539	87968539	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:87968539C>A	uc003hqj.3	+	3	1238	c.831C>A	c.(829-831)CCC>CCA	p.P277P	AFF1_uc011ccx.1_Silent_p.P218P|AFF1_uc003hqh.1_Silent_p.P284P|AFF1_uc011ccy.1_Silent_p.P284P|AFF1_uc011ccz.1_Silent_p.P284P|AFF1_uc003hqk.3_Silent_p.P277P|AFF1_uc011cda.1_Intron	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	277						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)														---	---	---	---	capture		Silent	SNP	87968539	87968539	357	4	C	A	A	24	24	AFF1	A	2	2
AFF1	4299	broad.mit.edu	37	4	88011215	88011215	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88011215C>A	uc003hqj.3	+	5	1570	c.1163C>A	c.(1162-1164)CCT>CAT	p.P388H	AFF1_uc003hqh.1_Missense_Mutation_p.P394H|AFF1_uc011ccy.1_Intron|AFF1_uc011ccz.1_Missense_Mutation_p.P395H|AFF1_uc003hqk.3_Missense_Mutation_p.P388H|AFF1_uc011cda.1_Missense_Mutation_p.P26H	NM_005935	NP_005926	P51825	AFF1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	388						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)	1		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)														---	---	---	---	capture		Missense_Mutation	SNP	88011215	88011215	357	4	C	A	A	24	24	AFF1	A	2	2
LEF1	51176	broad.mit.edu	37	4	109088716	109088716	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:109088716G>C	uc003hyt.1	-	1	863	c.208C>G	c.(208-210)CAC>GAC	p.H70D	LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.1_5'Flank|LEF1_uc003hyu.1_Missense_Mutation_p.H70D|LEF1_uc003hyv.1_Missense_Mutation_p.H70D|LEF1_uc010imb.1_RNA	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1 isoform 1	70					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 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			large_intestine(1)	1				OV - Ovarian serous cystadenocarcinoma(123;0.000224)														---	---	---	---	capture		Missense_Mutation	SNP	109088716	109088716	9038	4	G	C	C	48	48	LEF1	C	3	3
COL25A1	84570	broad.mit.edu	37	4	109765719	109765719	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:109765719C>A	uc003hze.1	-	29	2116	c.1585G>T	c.(1585-1587)GGC>TGC	p.G529C	COL25A1_uc003hzg.2_Missense_Mutation_p.G529C|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.G287C	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1 isoform 1	529	Extracellular (Potential).					collagen|extracellular space	beta-amyloid binding|heparin binding			ovary(2)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)														---	---	---	---	capture		Missense_Mutation	SNP	109765719	109765719	3822	4	C	A	A	24	24	COL25A1	A	2	2
KIAA1109	84162	broad.mit.edu	37	4	123161457	123161457	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123161457C>A	uc003ieh.2	+	27	4665	c.4620C>A	c.(4618-4620)ACC>ACA	p.T1540T	KIAA1109_uc003iei.1_Silent_p.T1293T|KIAA1109_uc010ins.1_Silent_p.T883T|KIAA1109_uc003iek.2_Silent_p.T159T	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1540					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---	capture		Silent	SNP	123161457	123161457	8516	4	C	A	A	21	21	KIAA1109	A	2	2
SLC25A31	83447	broad.mit.edu	37	4	128688282	128688282	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128688282T>A	uc003ifl.2	+	4	686	c.540T>A	c.(538-540)GAT>GAA	p.D180E		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	180	Helical; Name=4; (Potential).|Solcar 2.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	128688282	128688282	14992	4	T	A	A	51	51	SLC25A31	A	4	4
DCHS2	54798	broad.mit.edu	37	4	155156162	155156162	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155156162C>T	uc003inw.2	-	25	8277	c.8277G>A	c.(8275-8277)AGG>AGA	p.R2759R		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	2759					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)														---	---	---	---	capture		Silent	SNP	155156162	155156162	4459	4	C	T	T	18	18	DCHS2	T	2	2
DCHS2	54798	broad.mit.edu	37	4	155241661	155241661	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155241661C>A	uc003inw.2	-	14	3525	c.3525G>T	c.(3523-3525)GAG>GAT	p.E1175D		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1175	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)														---	---	---	---	capture		Missense_Mutation	SNP	155241661	155241661	4459	4	C	A	A	24	24	DCHS2	A	2	2
FGA	2243	broad.mit.edu	37	4	155510624	155510624	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155510624C>T	uc003iod.1	-	2	203	c.145G>A	c.(145-147)GAT>AAT	p.D49N	FGA_uc003ioe.1_Missense_Mutation_p.D49N|FGA_uc003iof.1_Missense_Mutation_p.D49N	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	49					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)													---	---	---	---	capture		Missense_Mutation	SNP	155510624	155510624	6067	4	C	T	T	32	32	FGA	T	2	2
ETFDH	2110	broad.mit.edu	37	4	159627943	159627943	+	Missense_Mutation	SNP	T	C	C	rs140184655		TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159627943T>C	uc003iqb.2	+	12	1963	c.1631T>C	c.(1630-1632)ATA>ACA	p.I544T	ETFDH_uc011cjg.1_Missense_Mutation_p.I497T|ETFDH_uc010iqr.2_Missense_Mutation_p.I141T|ETFDH_uc011cjh.1_Missense_Mutation_p.I483T|ETFDH_uc010iqs.2_Missense_Mutation_p.I466T	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	544					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)														---	---	---	---	capture		Missense_Mutation	SNP	159627943	159627943	5464	4	T	C	C	49	49	ETFDH	C	4	4
GALNTL6	442117	broad.mit.edu	37	4	173232904	173232904	+	Splice_Site	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:173232904G>A	uc003isv.2	+	4	1122	c.386_splice	c.e4+1	p.N129_splice		NM_001034845	NP_001030017			N-acetylgalactosaminyltransferase-like 6							Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Splice_Site	SNP	173232904	173232904	6489	4	G	A	A	36	36	GALNTL6	A	5	2
SORBS2	8470	broad.mit.edu	37	4	186578704	186578704	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186578704G>T	uc003iyl.2	-	6	999	c.141C>A	c.(139-141)ACC>ACA	p.T47T	SORBS2_uc003iyh.2_Silent_p.T226T|SORBS2_uc011ckw.1_Silent_p.T116T|SORBS2_uc003iyi.2_Silent_p.T133T|SORBS2_uc011ckx.1_Silent_p.T93T|SORBS2_uc003iyk.2_Silent_p.T133T|SORBS2_uc003iym.2_Silent_p.T147T|SORBS2_uc003iyn.1_Silent_p.T93T|SORBS2_uc011cky.1_Silent_p.T110T|SORBS2_uc003iyp.2_Silent_p.T147T|SORBS2_uc011cku.1_5'Flank|SORBS2_uc011ckv.1_5'Flank|SORBS2_uc003iyd.2_Silent_p.T226T|SORBS2_uc003iye.2_Silent_p.T47T|SORBS2_uc003iya.2_Silent_p.T47T|SORBS2_uc003iyb.2_Silent_p.T47T|SORBS2_uc003iyc.2_Silent_p.T47T|SORBS2_uc003iyg.2_Silent_p.T133T|SORBS2_uc003iyf.2_Silent_p.T110T|SORBS2_uc003iyo.1_5'Flank	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	47						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)														---	---	---	---	capture		Silent	SNP	186578704	186578704	15428	4	G	T	T	47	47	SORBS2	T	2	2
DNAH5	1767	broad.mit.edu	37	5	13708365	13708365	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13708365C>A	uc003jfd.2	-	76	13247	c.13205G>T	c.(13204-13206)AGG>ATG	p.R4402M	DNAH5_uc003jfc.2_Missense_Mutation_p.R570M	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4402	Potential.				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	13708365	13708365	4787	5	C	A	A	24	24	DNAH5	A	2	2
FAM105B	90268	broad.mit.edu	37	5	14690237	14690237	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14690237C>T	uc003jfk.2	+	6	836	c.684C>T	c.(682-684)CTC>CTT	p.L228L		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	228										ovary(2)	2	Lung NSC(4;0.00696)																	---	---	---	---	capture		Silent	SNP	14690237	14690237	5585	5	C	T	T	32	32	FAM105B	T	2	2
CDH10	1008	broad.mit.edu	37	5	24492992	24492992	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:24492992C>T	uc003jgr.1	-	10	1890	c.1558G>A	c.(1558-1560)GGT>AGT	p.G520S	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	520	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)											HNSCC(23;0.051)			---	---	---	---	capture		Missense_Mutation	SNP	24492992	24492992	3225	5	C	T	T	24	24	CDH10	T	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33527362	33527362	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33527362G>T	uc003jia.1	-	24	4879	c.4716C>A	c.(4714-4716)CCC>CCA	p.P1572P	ADAMTS12_uc010iuq.1_Silent_p.P1487P	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1572	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9															HNSCC(64;0.19)			---	---	---	---	capture		Silent	SNP	33527362	33527362	258	5	G	T	T	43	43	ADAMTS12	T	2	2
UGT3A2	167127	broad.mit.edu	37	5	36035916	36035916	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36035916G>T	uc003jjz.1	-	7	1549	c.1456C>A	c.(1456-1458)CTC>ATC	p.L486I	UGT3A2_uc011cos.1_Missense_Mutation_p.L452I|UGT3A2_uc011cot.1_Missense_Mutation_p.L184I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	486	Helical; (Potential).			L -> F (in Ref. 1; AAQ88782).		integral to membrane	glucuronosyltransferase activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	36035916	36035916	17522	5	G	T	T	34	34	UGT3A2	T	2	2
FYB	2533	broad.mit.edu	37	5	39202153	39202153	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39202153A>T	uc003jls.2	-	1	977	c.910T>A	c.(910-912)TTG>ATG	p.L304M	FYB_uc003jlt.2_Missense_Mutation_p.L304M|FYB_uc003jlu.2_Missense_Mutation_p.L304M|FYB_uc011cpl.1_Missense_Mutation_p.L314M	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	304					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	39202153	39202153	6375	5	A	T	T	2	2	FYB	T	4	4
HCN1	348980	broad.mit.edu	37	5	45262236	45262236	+	Silent	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45262236C>G	uc003jok.2	-	8	2485	c.2460G>C	c.(2458-2460)ACG>ACC	p.T820T		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	820	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	45262236	45262236	7278	5	C	G	G	23	23	HCN1	G	3	3
PARP8	79668	broad.mit.edu	37	5	50090868	50090868	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:50090868A>T	uc003jon.3	+	13	1227	c.1045A>T	c.(1045-1047)AGG>TGG	p.R349W	PARP8_uc011cpz.1_Missense_Mutation_p.R241W|PARP8_uc003joo.2_Missense_Mutation_p.R349W|PARP8_uc003jop.2_Missense_Mutation_p.R349W	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	349						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)																---	---	---	---	capture		Missense_Mutation	SNP	50090868	50090868	11882	5	A	T	T	7	7	PARP8	T	4	4
ITGA1	3672	broad.mit.edu	37	5	52223413	52223413	+	Splice_Site	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52223413G>A	uc003jou.2	+	20	2666	c.2614_splice	c.e20-1	p.A872_splice	ITGA1_uc003jov.2_Splice_Site|ITGA1_uc003jow.2_Splice_Site_p.A403_splice	NM_181501	NP_852478			integrin, alpha 1 precursor						axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(2)|lung(1)	3		Lung NSC(810;5.05e-05)|Breast(144;0.0851)																---	---	---	---	capture		Splice_Site	SNP	52223413	52223413	8176	5	G	A	A	35	35	ITGA1	A	5	2
GZMA	3001	broad.mit.edu	37	5	54404139	54404139	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54404139C>T	uc003jpm.2	+	4	581	c.544C>T	c.(544-546)CGA>TGA	p.R182*		NM_006144	NP_006135	P12544	GRAA_HUMAN	granzyme A precursor	182	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|pancreas(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)																---	---	---	---	capture		Nonsense_Mutation	SNP	54404139	54404139	7195	5	C	T	T	31	31	GZMA	T	5	1
ANKRD55	79722	broad.mit.edu	37	5	55422770	55422770	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55422770T>C	uc003jqu.2	-	8	928	c.776A>G	c.(775-777)CAG>CGG	p.Q259R		NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	258	ANK 7.									skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)																---	---	---	---	capture		Missense_Mutation	SNP	55422770	55422770	689	5	T	C	C	55	55	ANKRD55	C	4	4
MAP3K1	4214	broad.mit.edu	37	5	56170971	56170971	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:56170971G>T	uc003jqw.3	+	10	2300	c.1799G>T	c.(1798-1800)GGG>GTG	p.G600V		NM_005921	NP_005912	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase	600					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			ovary(1)|skin(1)	2		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)														---	---	---	---	capture		Missense_Mutation	SNP	56170971	56170971	9626	5	G	T	T	43	43	MAP3K1	T	2	2
TMEM174	134288	broad.mit.edu	37	5	72469360	72469360	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72469360C>T	uc010izc.2	+	1	338	c.290C>T	c.(289-291)TCC>TTC	p.S97F		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	transmembrane protein 174	97						integral to membrane				ovary(1)	1		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)														---	---	---	---	capture		Missense_Mutation	SNP	72469360	72469360	16624	5	C	T	T	30	30	TMEM174	T	2	2
SV2C	22987	broad.mit.edu	37	5	75594662	75594662	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:75594662G>C	uc003kei.1	+	10	1680	c.1546G>C	c.(1546-1548)GTT>CTT	p.V516L		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	516	Extracellular (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)														---	---	---	---	capture		Missense_Mutation	SNP	75594662	75594662	15939	5	G	C	C	48	48	SV2C	C	3	3
RASA1	5921	broad.mit.edu	37	5	86670110	86670110	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:86670110C>A	uc003kiw.2	+	14	2025	c.1907C>A	c.(1906-1908)CCA>CAA	p.P636Q	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.P459Q|RASA1_uc011ctv.1_Missense_Mutation_p.P469Q|RASA1_uc011ctw.1_Missense_Mutation_p.P470Q|RASA1_uc010jaw.2_Missense_Mutation_p.P458Q	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	636	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)														---	---	---	---	capture		Missense_Mutation	SNP	86670110	86670110	13520	5	C	A	A	21	21	RASA1	A	2	2
ARSK	153642	broad.mit.edu	37	5	94927318	94927318	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:94927318C>A	uc003kld.2	+	6	1243	c.1085C>A	c.(1084-1086)CCT>CAT	p.P362H	ARSK_uc010jbg.2_Missense_Mutation_p.P203H|ARSK_uc011cum.1_RNA	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	arylsulfatase K precursor	362						extracellular region	arylsulfatase activity|metal ion binding			pancreas(1)	1		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)														---	---	---	---	capture		Missense_Mutation	SNP	94927318	94927318	1014	5	C	A	A	24	24	ARSK	A	2	2
FAM170A	340069	broad.mit.edu	37	5	118970254	118970254	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118970254A>G	uc003ksm.2	+	3	1021	c.811A>G	c.(811-813)ATG>GTG	p.M271V	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.M271V|FAM170A_uc003kso.2_Missense_Mutation_p.M224V	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	271						intracellular	zinc ion binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	118970254	118970254	5693	5	A	G	G	8	8	FAM170A	G	4	4
SNCAIP	9627	broad.mit.edu	37	5	121761083	121761083	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:121761083G>C	uc003ksw.1	+	5	1245	c.1039G>C	c.(1039-1041)GAC>CAC	p.D347H	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.2_Missense_Mutation_p.D347H|SNCAIP_uc003ksx.1_Missense_Mutation_p.D394H|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.D41H|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	347					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)														---	---	---	---	capture		Missense_Mutation	SNP	121761083	121761083	15341	5	G	C	C	37	37	SNCAIP	C	3	3
SLC22A4	6583	broad.mit.edu	37	5	131649387	131649387	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131649387G>T	uc003kwq.2	+	3	743	c.578G>T	c.(577-579)TGG>TTG	p.W193L	SLC22A4_uc010jdq.1_RNA|uc003kwr.3_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	solute carrier family 22 member 4	193	Extracellular (Potential).				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity				0		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)													---	---	---	---	capture		Missense_Mutation	SNP	131649387	131649387	14953	5	G	T	T	47	47	SLC22A4	T	2	2
RAD50	10111	broad.mit.edu	37	5	131931297	131931297	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131931297C>A	uc003kxi.2	+	13	2389	c.2002C>A	c.(2002-2004)CAG>AAG	p.Q668K	RAD50_uc003kxh.2_Missense_Mutation_p.Q529K	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	668	Zinc-hook.|Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)										Homologous_recombination					---	---	---	---	capture		Missense_Mutation	SNP	131931297	131931297	13444	5	C	A	A	21	21	RAD50	A	2	2
WNT8A	7478	broad.mit.edu	37	5	137424656	137424656	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137424656G>T	uc003lcd.1	+	5	413	c.408G>T	c.(406-408)GTG>GTT	p.V136V	BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Silent_p.V154V|WNT8A_uc011cyk.1_Silent_p.V154V	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family,	136					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			ovary(1)|lung(1)|breast(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---	capture		Silent	SNP	137424656	137424656	17970	5	G	T	T	47	47	WNT8A	T	2	2
REEP2	51308	broad.mit.edu	37	5	137781195	137781195	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137781195C>T	uc003lcz.2	+	7	720	c.598C>T	c.(598-600)CCG>TCG	p.P200S	REEP2_uc003lda.2_Missense_Mutation_p.P202S|REEP2_uc011cyt.1_Missense_Mutation_p.P161S	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	200						integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---	capture		Missense_Mutation	SNP	137781195	137781195	13674	5	C	T	T	22	22	REEP2	T	2	2
ZMAT2	153527	broad.mit.edu	37	5	140083567	140083567	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140083567G>C	uc003lgy.1	+	4	315	c.301G>C	c.(301-303)GGA>CGA	p.G101R		NM_144723	NP_653324	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin type 2	101	Matrin-type.					nucleus	DNA binding|zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140083567	140083567	18283	5	G	C	C	47	47	ZMAT2	C	3	3
PCDHA4	56144	broad.mit.edu	37	5	140189067	140189067	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140189067C>A	uc003lhi.2	+	1	2396	c.2295C>A	c.(2293-2295)CCC>CCA	p.P765P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.P765P|PCDHA4_uc011daa.1_Silent_p.P765P	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	765	Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	140189067	140189067	11946	5	C	A	A	21	21	PCDHA4	A	2	2
PCDHA10	56139	broad.mit.edu	37	5	140236732	140236732	+	Missense_Mutation	SNP	G	A	A	rs145115378	byFrequency	TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140236732G>A	uc003lhx.2	+	1	1099	c.1099G>A	c.(1099-1101)GTC>ATC	p.V367I	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.V367I|PCDHA10_uc011dad.1_Missense_Mutation_p.V367I	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10 isoform 1 precursor	367	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)|breast(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140236732	140236732	11940	5	G	A	A	40	40	PCDHA10	A	1	1
PCDHB7	56129	broad.mit.edu	37	5	140554148	140554148	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140554148C>A	uc003lit.2	+	1	1906	c.1732C>A	c.(1732-1734)CGG>AGG	p.R578R		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	578	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Silent	SNP	140554148	140554148	11967	5	C	A	A	23	23	PCDHB7	A	1	1
PCDHGA7	56108	broad.mit.edu	37	5	140762746	140762746	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140762746G>C	uc003lka.1	+	1	280	c.280G>C	c.(280-282)GAG>CAG	p.E94Q	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.E94Q	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	94	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140762746	140762746	11979	5	G	C	C	33	33	PCDHGA7	C	3	3
PCDHGB5	56101	broad.mit.edu	37	5	140779539	140779539	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140779539G>T	uc003lkf.1	+	1	1845	c.1845G>T	c.(1843-1845)CTG>CTT	p.L615L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.L615L|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	615	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	140779539	140779539	11986	5	G	T	T	47	47	PCDHGB5	T	2	2
PCDH1	5097	broad.mit.edu	37	5	141243098	141243098	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141243098A>T	uc003llq.2	-	3	2915	c.2798T>A	c.(2797-2799)CTG>CAG	p.L933Q	PCDH1_uc003llp.2_Missense_Mutation_p.L933Q|PCDH1_uc011dbf.1_Missense_Mutation_p.L911Q	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	933	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)														---	---	---	---	capture		Missense_Mutation	SNP	141243098	141243098	11926	5	A	T	T	7	7	PCDH1	T	4	4
SLC6A7	6534	broad.mit.edu	37	5	149583559	149583559	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149583559C>G	uc003lrr.2	+	10	1661	c.1290C>G	c.(1288-1290)ATC>ATG	p.I430M		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7	430	Helical; Name=9; (Potential).					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)													---	---	---	---	capture		Missense_Mutation	SNP	149583559	149583559	15186	5	C	G	G	32	32	SLC6A7	G	3	3
KIF4B	285643	broad.mit.edu	37	5	154396080	154396080	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154396080C>A	uc010jih.1	+	1	2821	c.2661C>A	c.(2659-2661)AGC>AGA	p.S887R		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	887	Interaction with PRC1 (By similarity).|Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---	capture		Missense_Mutation	SNP	154396080	154396080	8615	5	C	A	A	26	26	KIF4B	A	2	2
ATP10B	23120	broad.mit.edu	37	5	160097524	160097524	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:160097524C>G	uc003lym.1	-	7	1468	c.621G>C	c.(619-621)TTG>TTC	p.L207F	ATP10B_uc003lyp.2_Missense_Mutation_p.L207F|ATP10B_uc011deg.1_Missense_Mutation_p.L251F|ATP10B_uc003lyo.2_Missense_Mutation_p.L179F	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	207	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---	capture		Missense_Mutation	SNP	160097524	160097524	1136	5	C	G	G	21	21	ATP10B	G	3	3
MAPK9	5601	broad.mit.edu	37	5	179668078	179668078	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179668078G>A	uc003mls.3	-	9	1220	c.949C>T	c.(949-951)CGT>TGT	p.R317C	MAPK9_uc003mlt.3_Missense_Mutation_p.R317C|MAPK9_uc010jlc.2_Missense_Mutation_p.R317C|MAPK9_uc003mlv.3_Missense_Mutation_p.R317C	NM_002752	NP_002743	P45984	MK09_HUMAN	mitogen-activated protein kinase 9 isoform JNK2	317	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding			central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---	capture		Missense_Mutation	SNP	179668078	179668078	9670	5	G	A	A	38	38	MAPK9	A	1	1
GFPT2	9945	broad.mit.edu	37	5	179745898	179745898	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179745898C>G	uc003mlw.1	-	10	951	c.853G>C	c.(853-855)GTG>CTG	p.V285L		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	285	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	SNP	179745898	179745898	6614	5	C	G	G	20	20	GFPT2	G	3	3
EXOC2	55770	broad.mit.edu	37	6	486758	486758	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:486758C>A	uc003mtd.2	-	28	2822	c.2688G>T	c.(2686-2688)CTG>CTT	p.L896L	EXOC2_uc003mte.2_Silent_p.L896L|EXOC2_uc011dho.1_Silent_p.L491L	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Sec5 protein	896					exocytosis|protein transport					breast(4)|ovary(2)|pancreas(1)	7	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)														---	---	---	---	capture		Silent	SNP	486758	486758	5495	6	C	A	A	21	21	EXOC2	A	2	2
GMDS	2762	broad.mit.edu	37	6	1960108	1960108	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:1960108G>T	uc003mtq.2	-	6	826	c.636C>A	c.(634-636)CCC>CCA	p.P212P		NM_001500	NP_001491	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	212					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity			central_nervous_system(1)	1	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)														---	---	---	---	capture		Silent	SNP	1960108	1960108	6755	6	G	T	T	47	47	GMDS	T	2	2
HIST1H4E	8367	broad.mit.edu	37	6	26205085	26205085	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26205085G>A	uc003ngy.2	+	1	213	c.213G>A	c.(211-213)GTG>GTA	p.V71V		NM_003545	NP_003536	P62805	H4_HUMAN	histone cluster 1, H4e	71				V -> A (in Ref. 14; AAH67496).	CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(1)	1		all_hematologic(11;0.196)																---	---	---	---	capture		Silent	SNP	26205085	26205085	7454	6	G	A	A	45	45	HIST1H4E	A	2	2
ZNF165	7718	broad.mit.edu	37	6	28056977	28056977	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28056977G>T	uc003nkg.2	+	5	2271	c.1187G>T	c.(1186-1188)GGG>GTG	p.G396V	ZNF165_uc003nkh.2_Missense_Mutation_p.G396V|ZNF165_uc003nki.3_Missense_Mutation_p.G396V|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	396					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	28056977	28056977	18331	6	G	T	T	43	43	ZNF165	T	2	2
ZFP57	346171	broad.mit.edu	37	6	29643797	29643797	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29643797G>T	uc011dlw.1	-	2	314	c.163C>A	c.(163-165)CAG>AAG	p.Q55K	ZFP57_uc003nnl.3_Missense_Mutation_p.Q35K	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	zinc finger protein 57 homolog	27	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			ovary(3)|skin(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	29643797	29643797	18239	6	G	T	T	47	47	ZFP57	T	2	2
C6orf15	29113	broad.mit.edu	37	6	31079766	31079766	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31079766C>A	uc003nsk.1	-	2	370	c.370G>T	c.(370-372)GAG>TAG	p.E124*	PSORS1C1_uc003nsl.1_5'Flank|PSORS1C1_uc010jsj.1_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	STG protein precursor	124											0																		---	---	---	---	capture		Nonsense_Mutation	SNP	31079766	31079766	2440	6	C	A	A	29	29	C6orf15	A	5	2
BAT2	7916	broad.mit.edu	37	6	31599382	31599382	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31599382C>A	uc003nvb.3	+	16	3181	c.2932C>A	c.(2932-2934)CCC>ACC	p.P978T	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.P978T	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	978	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	31599382	31599382	1340	6	C	A	A	18	18	BAT2	A	2	2
ZBTB22	9278	broad.mit.edu	37	6	33283463	33283463	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33283463G>T	uc003oeb.2	-	2	1383	c.1231C>A	c.(1231-1233)CAC>AAC	p.H411N	TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.H411N	NM_005453	NP_005444	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	33283463	33283463	18116	6	G	T	T	47	47	ZBTB22	T	2	2
ZBTB9	221504	broad.mit.edu	37	6	33424042	33424042	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33424042G>T	uc003oeq.2	+	2	1433	c.1165G>T	c.(1165-1167)GGG>TGG	p.G389W		NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	389	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	33424042	33424042	18146	6	G	T	T	47	47	ZBTB9	T	2	2
DNAH8	1769	broad.mit.edu	37	6	38757578	38757578	+	Splice_Site	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38757578G>T	uc003ooe.1	+	17	2533	c.1933_splice	c.e17-1	p.G645_splice		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---	capture		Splice_Site	SNP	38757578	38757578	4790	6	G	T	T	35	35	DNAH8	T	5	2
GPR111	222611	broad.mit.edu	37	6	47649184	47649184	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47649184A>G	uc010jzj.1	+	6	890	c.889A>G	c.(889-891)ATA>GTA	p.I297V	GPR111_uc010jzk.1_Missense_Mutation_p.I229V|GPR111_uc003oyy.2_RNA	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	G-protein coupled receptor 111	297	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	47649184	47649184	6902	6	A	G	G	8	8	GPR111	G	4	4
C6orf138	442213	broad.mit.edu	37	6	47847514	47847514	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47847514T>A	uc011dwm.1	-	3	1100	c.1015A>T	c.(1015-1017)AGC>TGC	p.S339C	C6orf138_uc011dwn.1_Missense_Mutation_p.S103C	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	356	Helical; (Potential).|SSD.					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	47847514	47847514	2435	6	T	A	A	55	55	C6orf138	A	4	4
PKHD1	5314	broad.mit.edu	37	6	51612743	51612743	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51612743G>T	uc003pah.1	-	58	9947	c.9671C>A	c.(9670-9672)GCC>GAC	p.A3224D	PKHD1_uc010jzn.1_Missense_Mutation_p.A1207D|PKHD1_uc003pai.2_Missense_Mutation_p.A3224D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3224	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---	capture		Missense_Mutation	SNP	51612743	51612743	12396	6	G	T	T	42	42	PKHD1	T	2	2
C6orf142	90523	broad.mit.edu	37	6	53989461	53989461	+	Missense_Mutation	SNP	G	T	T	rs143336016		TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53989461G>T	uc003pcg.3	+	3	523	c.410G>T	c.(409-411)GGG>GTG	p.G137V	C6orf142_uc003pcf.2_Missense_Mutation_p.G137V|C6orf142_uc003pch.3_Missense_Mutation_p.G75V|C6orf142_uc011dwz.1_Missense_Mutation_p.G96V|C6orf142_uc011dxa.1_Missense_Mutation_p.G148V	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	hypothetical protein LOC90523	137						nuclear envelope|PML body	protein binding				0	Lung NSC(77;0.0317)																	---	---	---	---	capture		Missense_Mutation	SNP	53989461	53989461	2437	6	G	T	T	43	43	C6orf142	T	2	2
BAI3	577	broad.mit.edu	37	6	70065752	70065752	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70065752G>C	uc003pev.3	+	28	4043	c.3595G>C	c.(3595-3597)GTT>CTT	p.V1199L	BAI3_uc010kak.2_Missense_Mutation_p.V1199L|BAI3_uc011dxx.1_Missense_Mutation_p.V405L	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1199	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---	capture		Missense_Mutation	SNP	70065752	70065752	1321	6	G	C	C	35	35	BAI3	C	3	3
TBX18	9096	broad.mit.edu	37	6	85446511	85446511	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:85446511C>A	uc003pkl.1	-	8	1716	c.1716G>T	c.(1714-1716)GTG>GTT	p.V572V	TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	T-box 18	572					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)														---	---	---	---	capture		Silent	SNP	85446511	85446511	16179	6	C	A	A	21	21	TBX18	A	2	2
SYNCRIP	10492	broad.mit.edu	37	6	86324913	86324913	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:86324913C>T	uc003pla.2	-	11	1974	c.1433G>A	c.(1432-1434)CGT>CAT	p.R478H	SYNCRIP_uc003pku.2_Missense_Mutation_p.R478H|SYNCRIP_uc003pkw.2_Missense_Mutation_p.R443H|SYNCRIP_uc003pky.2_Missense_Mutation_p.R380H|SYNCRIP_uc003pkv.2_Missense_Mutation_p.R478H|SYNCRIP_uc003pkx.2_Missense_Mutation_p.R326H|SYNCRIP_uc003pkz.2_Missense_Mutation_p.R443H	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	478	Interaction with APOBEC1.|3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|1-3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)														---	---	---	---	capture		Missense_Mutation	SNP	86324913	86324913	15965	6	C	T	T	19	19	SYNCRIP	T	1	1
KLHL32	114792	broad.mit.edu	37	6	97533046	97533046	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:97533046C>T	uc010kcm.1	+	6	928	c.456C>T	c.(454-456)GAC>GAT	p.D152D	KLHL32_uc003poy.2_Silent_p.D152D|KLHL32_uc011ead.1_Silent_p.D116D|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.D83D|KLHL32_uc003ppa.2_RNA	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	152								p.D152D(1)		ovary(3)|skin(1)	4		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)														---	---	---	---	capture		Silent	SNP	97533046	97533046	8699	6	C	T	T	18	18	KLHL32	T	2	2
USP45	85015	broad.mit.edu	37	6	99951668	99951668	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99951668G>T	uc003ppx.2	-	5	984	c.451C>A	c.(451-453)CAG>AAG	p.Q151K	USP45_uc003ppw.2_5'UTR|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Missense_Mutation_p.Q151K|USP45_uc003ppz.2_Missense_Mutation_p.Q151K|USP45_uc003pqa.2_Missense_Mutation_p.Q151K	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	151					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|breast(1)	2		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)														---	---	---	---	capture		Missense_Mutation	SNP	99951668	99951668	17640	6	G	T	T	47	47	USP45	T	2	2
SIM1	6492	broad.mit.edu	37	6	100895257	100895257	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100895257G>T	uc003pqj.3	-	8	1092	c.885C>A	c.(883-885)TAC>TAA	p.Y295*	SIM1_uc010kcu.2_Nonsense_Mutation_p.Y295*	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	295	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)														---	---	---	---	capture		Nonsense_Mutation	SNP	100895257	100895257	14818	6	G	T	T	48	48	SIM1	T	5	2
GPRC6A	222545	broad.mit.edu	37	6	117113591	117113591	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117113591G>T	uc003pxj.1	-	6	2517	c.2495C>A	c.(2494-2496)CCC>CAC	p.P832H	GPRC6A_uc003pxk.1_Missense_Mutation_p.P657H|GPRC6A_uc003pxl.1_Missense_Mutation_p.P761H	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6,	832	Cytoplasmic (Potential).				response to amino acid stimulus		G-protein coupled receptor activity			ovary(4)|skin(2)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)														---	---	---	---	capture		Missense_Mutation	SNP	117113591	117113591	7004	6	G	T	T	43	43	GPRC6A	T	2	2
L3MBTL3	84456	broad.mit.edu	37	6	130454629	130454629	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130454629C>T	uc003qbt.2	+	21	2169	c.1999C>T	c.(1999-2001)CAG>TAG	p.Q667*	L3MBTL3_uc003qbu.2_Nonsense_Mutation_p.Q642*	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	667					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)														---	---	---	---	capture		Nonsense_Mutation	SNP	130454629	130454629	8916	6	C	T	T	17	17	L3MBTL3	T	5	2
L3MBTL3	84456	broad.mit.edu	37	6	130454633	130454633	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130454633G>T	uc003qbt.2	+	21	2173	c.2003G>T	c.(2002-2004)CGT>CTT	p.R668L	L3MBTL3_uc003qbu.2_Missense_Mutation_p.R643L	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	668					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)														---	---	---	---	capture		Missense_Mutation	SNP	130454633	130454633	8916	6	G	T	T	40	40	L3MBTL3	T	1	1
SAMD3	154075	broad.mit.edu	37	6	130505658	130505658	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130505658C>A	uc003qbv.2	-	7	820	c.494G>T	c.(493-495)TGC>TTC	p.C165F	SAMD3_uc003qbx.2_Missense_Mutation_p.C165F|SAMD3_uc003qbw.2_Missense_Mutation_p.C165F|SAMD3_uc010kfg.1_Missense_Mutation_p.C165F|SAMD3_uc003qby.2_Missense_Mutation_p.C165F|SAMD3_uc003qbz.1_Missense_Mutation_p.C124F	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	165										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)														---	---	---	---	capture		Missense_Mutation	SNP	130505658	130505658	14300	6	C	A	A	25	25	SAMD3	A	2	2
BCLAF1	9774	broad.mit.edu	37	6	136599784	136599784	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136599784C>A	uc003qgx.1	-	4	488	c.235G>T	c.(235-237)GGG>TGG	p.G79W	BCLAF1_uc003qgw.1_Missense_Mutation_p.G79W|BCLAF1_uc003qgy.1_Missense_Mutation_p.G77W|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G77W	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	79					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)														---	---	---	---	capture		Missense_Mutation	SNP	136599784	136599784	1404	6	C	A	A	24	24	BCLAF1	A	2	2
HECA	51696	broad.mit.edu	37	6	139495521	139495521	+	Splice_Site	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139495521G>T	uc003qin.2	+	3	1598	c.1313_splice	c.e3-1	p.G438_splice		NM_016217	NP_057301			headcase						respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)														---	---	---	---	capture		Splice_Site	SNP	139495521	139495521	7321	6	G	T	T	35	35	HECA	T	5	2
ZBTB2	57621	broad.mit.edu	37	6	151687860	151687860	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151687860G>C	uc003qoh.2	-	3	476	c.341C>G	c.(340-342)GCC>GGC	p.A114G		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)														---	---	---	---	capture		Missense_Mutation	SNP	151687860	151687860	18114	6	G	C	C	42	42	ZBTB2	C	3	3
SYNE1	23345	broad.mit.edu	37	6	152804220	152804220	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152804220C>A	uc010kiw.2	-	14	1952	c.1350G>T	c.(1348-1350)AAG>AAT	p.K450N	SYNE1_uc003qot.3_Missense_Mutation_p.K457N|SYNE1_uc003qou.3_Missense_Mutation_p.K450N|SYNE1_uc010kjb.1_Missense_Mutation_p.K433N|SYNE1_uc003qpa.1_Missense_Mutation_p.K450N|SYNE1_uc003qox.1_Translation_Start_Site	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	450	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---	capture		Missense_Mutation	SNP	152804220	152804220	15966	6	C	A	A	24	24	SYNE1	A	2	2
NOX3	50508	broad.mit.edu	37	6	155761124	155761124	+	Missense_Mutation	SNP	C	G	G	rs143056669	byFrequency	TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155761124C>G	uc003qqm.2	-	6	737	c.634G>C	c.(634-636)GTC>CTC	p.V212L		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	212	Ferric oxidoreductase.|Helical; (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)														---	---	---	---	capture		Missense_Mutation	SNP	155761124	155761124	10961	6	C	G	G	19	19	NOX3	G	3	3
SNX9	51429	broad.mit.edu	37	6	158359664	158359664	+	Splice_Site	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158359664G>T	uc003qqv.1	+	16	1707	c.1534_splice	c.e16-1	p.G512_splice		NM_016224	NP_057308			sorting nexin 9						cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)														---	---	---	---	capture		Splice_Site	SNP	158359664	158359664	15409	6	G	T	T	35	35	SNX9	T	5	2
SLC22A2	6582	broad.mit.edu	37	6	160670411	160670411	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160670411C>T	uc003qtf.2	-	4	849	c.679G>A	c.(679-681)GAA>AAA	p.E227K	SLC22A2_uc003qte.1_Missense_Mutation_p.E227K|SLC22A2_uc003qth.1_3'UTR	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	227	Helical; (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)|skin(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)														---	---	---	---	capture		Missense_Mutation	SNP	160670411	160670411	14947	6	C	T	T	32	32	SLC22A2	T	2	2
CCR6	1235	broad.mit.edu	37	6	167550498	167550498	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167550498G>T	uc003qvl.2	+	13	3256	c.780G>T	c.(778-780)GTG>GTT	p.V260V	CCR6_uc010kkm.2_Silent_p.V260V|CCR6_uc003qvn.3_Silent_p.V260V|CCR6_uc003qvm.3_Silent_p.V260V	NM_031409	NP_113597	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	260	Helical; Name=6; (Potential).				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			ovary(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)														---	---	---	---	capture		Silent	SNP	167550498	167550498	3072	6	G	T	T	46	46	CCR6	T	2	2
CARD11	84433	broad.mit.edu	37	7	2968256	2968256	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2968256T>A	uc003smv.2	-	13	2134	c.1730A>T	c.(1729-1731)TAC>TTC	p.Y577F		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	577					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)				Mis		DLBCL								---	---	---	---	capture		Missense_Mutation	SNP	2968256	2968256	2764	7	T	A	A	57	57	CARD11	A	4	4
KDELR2	11014	broad.mit.edu	37	7	6513907	6513907	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6513907C>A	uc003sqe.3	-	2	261	c.100G>T	c.(100-102)GGG>TGG	p.G34W	DAGLB_uc003sqd.3_Intron|KDELR2_uc003sqf.3_Missense_Mutation_p.G34W	NM_006854	NP_006845	P33947	ERD22_HUMAN	KDEL receptor 2 isoform 1	34	Cytoplasmic (Potential).				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)														---	---	---	---	capture		Missense_Mutation	SNP	6513907	6513907	8426	7	C	A	A	21	21	KDELR2	A	2	2
COL28A1	340267	broad.mit.edu	37	7	7398270	7398270	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7398270T>A	uc003src.1	-	35	3489	c.3372A>T	c.(3370-3372)CAA>CAT	p.Q1124H	COL28A1_uc011jxe.1_Missense_Mutation_p.Q807H	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	1124					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)														---	---	---	---	capture		Missense_Mutation	SNP	7398270	7398270	3824	7	T	A	A	56	56	COL28A1	A	4	4
TMEM195	392636	broad.mit.edu	37	7	15584478	15584478	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:15584478G>C	uc003stb.1	-	3	498	c.328C>G	c.(328-330)CCT>GCT	p.P110A		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	transmembrane protein 195	110					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	15584478	15584478	16652	7	G	C	C	42	42	TMEM195	C	3	3
MACC1	346389	broad.mit.edu	37	7	20198760	20198760	+	Silent	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20198760A>G	uc003sus.3	-	5	1533	c.1224T>C	c.(1222-1224)GGT>GGC	p.G408G	MACC1_uc010kug.2_Silent_p.G408G	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	408					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	20198760	20198760	9520	7	A	G	G	6	6	MACC1	G	4	4
MACC1	346389	broad.mit.edu	37	7	20199112	20199112	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20199112T>C	uc003sus.3	-	5	1181	c.872A>G	c.(871-873)AAA>AGA	p.K291R	MACC1_uc010kug.2_Missense_Mutation_p.K291R	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	291					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	20199112	20199112	9520	7	T	C	C	64	64	MACC1	C	4	4
NPVF	64111	broad.mit.edu	37	7	25266476	25266476	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:25266476C>G	uc003sxo.2	-	2	355	c.308G>C	c.(307-309)GGA>GCA	p.G103A		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	103					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	25266476	25266476	11010	7	C	G	G	30	30	NPVF	G	3	3
AQP1	358	broad.mit.edu	37	7	30951833	30951833	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30951833G>T	uc003tbv.1	+	1	366	c.309G>T	c.(307-309)GTG>GTT	p.V103V	AQP1_uc011kac.1_Silent_p.V163V	NM_198098	NP_932766	P29972	AQP1_HUMAN	aquaporin 1	103	Helical; Name=Helix 3.				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity				0		Melanoma(862;0.16)			Acetazolamide(DB00819)													---	---	---	---	capture		Silent	SNP	30951833	30951833	832	7	G	T	T	47	47	AQP1	T	2	2
AMPH	273	broad.mit.edu	37	7	38431391	38431391	+	Silent	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38431391T>A	uc003tgu.2	-	19	1905	c.1836A>T	c.(1834-1836)GCA>GCT	p.A612A	AMPH_uc003tgv.2_Silent_p.A570A|AMPH_uc003tgt.2_Silent_p.A497A|AMPH_uc003tgw.1_Silent_p.A635A|AMPH_uc010kxl.1_RNA	NM_001635	NP_001626	P49418	AMPH_HUMAN	amphiphysin isoform 1	612					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				ovary(3)|liver(1)|skin(1)	5																		---	---	---	---	capture		Silent	SNP	38431391	38431391	591	7	T	A	A	63	63	AMPH	A	4	4
GCK	2645	broad.mit.edu	37	7	44193036	44193036	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44193036C>A	uc003tkl.2	-	2	542	c.72G>T	c.(70-72)CAG>CAT	p.Q24H	GCK_uc003tkj.1_Missense_Mutation_p.Q23H|GCK_uc003tkk.1_Missense_Mutation_p.Q25H	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	24					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	44193036	44193036	6559	7	C	A	A	28	28	GCK	A	2	2
PKD1L1	168507	broad.mit.edu	37	7	47947844	47947844	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47947844C>G	uc003tny.1	-	9	1232	c.1232G>C	c.(1231-1233)GGA>GCA	p.G411A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	411	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---	capture		Missense_Mutation	SNP	47947844	47947844	12388	7	C	G	G	30	30	PKD1L1	G	3	3
ABCA13	154664	broad.mit.edu	37	7	48313526	48313526	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48313526G>T	uc003toq.2	+	17	4288	c.4263G>T	c.(4261-4263)TTG>TTT	p.L1421F	ABCA13_uc010kyr.2_Missense_Mutation_p.L924F	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1421					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	48313526	48313526	32	7	G	T	T	47	47	ABCA13	T	2	2
FZD9	8326	broad.mit.edu	37	7	72849712	72849712	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72849712G>T	uc003tyb.2	+	1	1604	c.1375G>T	c.(1375-1377)GCC>TCC	p.A459S		NM_003508	NP_003499	O00144	FZD9_HUMAN	frizzled 9 precursor	459	Helical; Name=6; (Potential).				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1		Lung NSC(55;0.0659)|all_lung(88;0.152)																---	---	---	---	capture		Missense_Mutation	SNP	72849712	72849712	6388	7	G	T	T	38	38	FZD9	T	1	1
AKAP9	10142	broad.mit.edu	37	7	91660895	91660895	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91660895C>G	uc003ulg.2	+	16	4540	c.4315C>G	c.(4315-4317)CAA>GAA	p.Q1439E	AKAP9_uc003ule.2_Missense_Mutation_p.Q1451E|AKAP9_uc003ulf.2_Missense_Mutation_p.Q1439E|AKAP9_uc003uli.2_Missense_Mutation_p.Q1064E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	1451	Potential.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	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)					T	BRAF	papillary thyroid								---	---	---	---	capture		Missense_Mutation	SNP	91660895	91660895	462	7	C	G	G	17	17	AKAP9	G	3	3
STAG3	10734	broad.mit.edu	37	7	99783901	99783901	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99783901C>A	uc003utx.1	+	5	570	c.415C>A	c.(415-417)CAA>AAA	p.Q139K	STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Intron	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	139					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---	capture		Missense_Mutation	SNP	99783901	99783901	15762	7	C	A	A	21	21	STAG3	A	2	2
STAG3	10734	broad.mit.edu	37	7	99809470	99809470	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99809470T>G	uc003utx.1	+	32	3723	c.3568T>G	c.(3568-3570)TCA>GCA	p.S1190A	STAG3_uc011kjk.1_Missense_Mutation_p.S1132A|GATS_uc003uty.3_RNA|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.S415A|GATS_uc011kjl.1_RNA|GATS_uc010lgu.2_RNA	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1190					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---	capture		Missense_Mutation	SNP	99809470	99809470	15762	7	T	G	G	58	58	STAG3	G	4	4
AGFG2	3268	broad.mit.edu	37	7	100161511	100161511	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100161511C>A	uc003uvf.2	+	10	1362	c.1226C>A	c.(1225-1227)CCC>CAC	p.P409H	AGFG2_uc010lgy.2_Intron	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	409	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1																OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	100161511	100161511	384	7	C	A	A	22	22	AGFG2	A	2	2
PCOLCE	5118	broad.mit.edu	37	7	100201675	100201675	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100201675G>T	uc003uvo.2	+	3	496	c.298G>T	c.(298-300)GGG>TGG	p.G100W	uc011kjy.1_5'Flank|PCOLCE_uc011kkb.1_Missense_Mutation_p.G100W|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	100	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity				0	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)																	---	---	---	---	capture		Missense_Mutation	SNP	100201675	100201675	12014	7	G	T	T	47	47	PCOLCE	T	2	2
MLL5	55904	broad.mit.edu	37	7	104742347	104742347	+	Silent	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:104742347A>G	uc003vcm.2	+	17	2436	c.1902A>G	c.(1900-1902)GAA>GAG	p.E634E	MLL5_uc010ljc.2_Silent_p.E634E|MLL5_uc010lje.1_RNA	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 5	634					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Silent	SNP	104742347	104742347	10014	7	A	G	G	3	3	MLL5	G	4	4
CDHR3	222256	broad.mit.edu	37	7	105641957	105641957	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105641957G>T	uc003vdl.3	+	7	871	c.763G>T	c.(763-765)GTG>TTG	p.V255L	CDHR3_uc003vdk.2_Intron|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.V242L|CDHR3_uc011klt.1_Missense_Mutation_p.V167L|CDHR3_uc003vdn.2_5'UTR	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	255	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	105641957	105641957	3249	7	G	T	T	40	40	CDHR3	T	1	1
NRCAM	4897	broad.mit.edu	37	7	107818549	107818549	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107818549C>T	uc003vfb.2	-	26	3331	c.2860G>A	c.(2860-2862)GCT>ACT	p.A954T	NRCAM_uc003vfc.2_Missense_Mutation_p.A938T|NRCAM_uc011kmk.1_Missense_Mutation_p.A949T|NRCAM_uc003vfd.2_Missense_Mutation_p.A930T|NRCAM_uc003vfe.2_Missense_Mutation_p.A930T|NRCAM_uc011kmj.1_5'Flank	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	954	Fibronectin type-III 4.|Extracellular (Potential).			A -> V (in Ref. 8; CAA04507).	angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.L954L(1)		ovary(3)|breast(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	107818549	107818549	11049	7	C	T	T	25	25	NRCAM	T	2	2
NRCAM	4897	broad.mit.edu	37	7	107822332	107822332	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107822332G>T	uc003vfb.2	-	24	3051	c.2580C>A	c.(2578-2580)ACC>ACA	p.T860T	NRCAM_uc003vfc.2_Silent_p.T844T|NRCAM_uc011kmk.1_Silent_p.T855T|NRCAM_uc003vfd.2_Silent_p.T836T|NRCAM_uc003vfe.2_Silent_p.T836T	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	860	Fibronectin type-III 3.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5																		---	---	---	---	capture		Silent	SNP	107822332	107822332	11049	7	G	T	T	35	35	NRCAM	T	2	2
NRCAM	4897	broad.mit.edu	37	7	107866747	107866747	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107866747G>T	uc003vfb.2	-	9	1097	c.626C>A	c.(625-627)CCA>CAA	p.P209Q	NRCAM_uc003vfc.2_Missense_Mutation_p.P203Q|NRCAM_uc011kmk.1_Missense_Mutation_p.P204Q|NRCAM_uc003vfd.2_Missense_Mutation_p.P204Q|NRCAM_uc003vfe.2_Missense_Mutation_p.P204Q	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	209	Ig-like 2.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	107866747	107866747	11049	7	G	T	T	47	47	NRCAM	T	2	2
CFTR	1080	broad.mit.edu	37	7	117304894	117304894	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117304894C>A	uc003vjd.2	+	25	4248	c.4116C>A	c.(4114-4116)CCC>CCA	p.P1372P	CFTR_uc011knq.1_Silent_p.P778P	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1372	Cytoplasmic (Potential).|ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)									Cystic_Fibrosis				---	---	---	---	capture		Silent	SNP	117304894	117304894	3427	7	C	A	A	21	21	CFTR	A	2	2
CTTNBP2	83992	broad.mit.edu	37	7	117400707	117400707	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117400707C>T	uc003vjf.2	-	10	3046	c.2954G>A	c.(2953-2955)GGT>GAT	p.G985D		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	985										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	117400707	117400707	4204	7	C	T	T	18	18	CTTNBP2	T	2	2
AASS	10157	broad.mit.edu	37	7	121731799	121731799	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121731799C>G	uc003vka.2	-	17	2070	c.1974G>C	c.(1972-1974)TTG>TTC	p.L658F	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.L658F|AASS_uc011knw.1_Missense_Mutation_p.L146F	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	658	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	121731799	121731799	25	7	C	G	G	29	29	AASS	G	3	3
RBM28	55131	broad.mit.edu	37	7	127955031	127955031	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127955031C>A	uc003vmp.2	-	17	1946	c.1831G>T	c.(1831-1833)GGG>TGG	p.G611W	RBM28_uc003vmo.2_Missense_Mutation_p.G153W|RBM28_uc011koj.1_Missense_Mutation_p.G470W	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	611					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	127955031	127955031	13590	7	C	A	A	22	22	RBM28	A	2	2
METTL2B	55798	broad.mit.edu	37	7	128141838	128141838	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128141838C>A	uc003vnf.2	+	9	1042	c.1005C>A	c.(1003-1005)ACC>ACA	p.T335T	METTL2B_uc003vng.2_Silent_p.T270T|METTL2B_uc011kop.1_Silent_p.T199T	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	335							methyltransferase activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	128141838	128141838	9890	7	C	A	A	21	21	METTL2B	A	2	2
FAM71F2	346653	broad.mit.edu	37	7	128315900	128315900	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128315900A>G	uc003vnk.3	+	2	458	c.352A>G	c.(352-354)ATC>GTC	p.I118V	FAM71F2_uc010llm.1_Missense_Mutation_p.I109V|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN	hypothetical protein LOC346653 isoform a	118											0																		---	---	---	---	capture		Missense_Mutation	SNP	128315900	128315900	5837	7	A	G	G	8	8	FAM71F2	G	4	4
FLNC	2318	broad.mit.edu	37	7	128493535	128493535	+	Nonsense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128493535T>A	uc003vnz.3	+	38	6430	c.6221T>A	c.(6220-6222)TTG>TAG	p.L2074*	FLNC_uc003voa.3_Nonsense_Mutation_p.L2041*	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2074	Filamin 19.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12																		---	---	---	---	capture		Nonsense_Mutation	SNP	128493535	128493535	6177	7	T	A	A	63	63	FLNC	A	5	4
AKR1D1	6718	broad.mit.edu	37	7	137761328	137761328	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137761328G>T	uc003vtz.2	+	1	133	c.64G>T	c.(64-66)GGA>TGA	p.G22*	AKR1D1_uc011kqb.1_Nonsense_Mutation_p.G22*|AKR1D1_uc011kqc.1_Intron|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Nonsense_Mutation_p.G22*|AKR1D1_uc011kqf.1_Nonsense_Mutation_p.G22*	NM_005989	NP_005980	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	22					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			skin(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	137761328	137761328	476	7	G	T	T	39	39	AKR1D1	T	5	1
KIAA1549	57670	broad.mit.edu	37	7	138552813	138552813	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138552813C>A	uc011kql.1	-	15	4886	c.4837G>T	c.(4837-4839)GAC>TAC	p.D1613Y	KIAA1549_uc011kqi.1_Missense_Mutation_p.D397Y|KIAA1549_uc003vuk.3_Missense_Mutation_p.D1563Y|KIAA1549_uc011kqj.1_Missense_Mutation_p.D1613Y|KIAA1549_uc011kqk.1_Missense_Mutation_p.D397Y	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	1613						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230								O	BRAF	pilocytic astrocytoma								---	---	---	---	capture		Missense_Mutation	SNP	138552813	138552813	8553	7	C	A	A	31	31	KIAA1549	A	1	1
RAB19	401409	broad.mit.edu	37	7	140111804	140111804	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140111804G>T	uc010lni.2	+	3	530	c.332G>T	c.(331-333)TGG>TTG	p.W111L	RAB19_uc011krc.1_Missense_Mutation_p.W111L	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	111					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0	Melanoma(164;0.0142)																	---	---	---	---	capture		Missense_Mutation	SNP	140111804	140111804	13363	7	G	T	T	47	47	RAB19	T	2	2
OR2F1	26211	broad.mit.edu	37	7	143657086	143657086	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143657086G>T	uc003wds.1	+	1	67	c.23G>T	c.(22-24)TGG>TTG	p.W8L		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	8	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)																	---	---	---	---	capture		Missense_Mutation	SNP	143657086	143657086	11402	7	G	T	T	47	47	OR2F1	T	2	2
TMEM176A	55365	broad.mit.edu	37	7	150501463	150501463	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150501463C>G	uc003whx.1	+	6	647	c.569C>G	c.(568-570)ACC>AGC	p.T190S		NM_018487	NP_060957	Q96HP8	T176A_HUMAN	hepatocellular carcinoma-associated antigen 112	190						integral to membrane				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	150501463	150501463	16626	7	C	G	G	18	18	TMEM176A	G	3	3
ABP1	26	broad.mit.edu	37	7	150558048	150558048	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150558048G>A	uc003why.1	+	6	6225	c.2007G>A	c.(2005-2007)GTG>GTA	p.V669V	ABP1_uc003whz.1_Silent_p.V669V|ABP1_uc003wia.1_Silent_p.V688V	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	669					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)													---	---	---	---	capture		Silent	SNP	150558048	150558048	99	7	G	A	A	45	45	ABP1	A	2	2
ERICH1	157697	broad.mit.edu	37	8	623443	623443	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:623443C>A	uc003wph.2	-	4	974	c.909G>T	c.(907-909)GAG>GAT	p.E303D	ERICH1_uc011kwh.1_Missense_Mutation_p.E303D|ERICH1_uc003wpe.1_Missense_Mutation_p.E209D|ERICH1_uc003wpi.2_Missense_Mutation_p.E115D	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	glutamate-rich 1	303	Glu-rich.									large_intestine(2)	2		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)														---	---	---	---	capture		Missense_Mutation	SNP	623443	623443	5423	8	C	A	A	24	24	ERICH1	A	2	2
MCPH1	79648	broad.mit.edu	37	8	6302384	6302384	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6302384A>G	uc003wqi.2	+	8	1209	c.1141A>G	c.(1141-1143)ATC>GTC	p.I381V	MCPH1_uc003wqh.2_Missense_Mutation_p.I381V|MCPH1_uc011kwl.1_Missense_Mutation_p.I333V	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	381						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)														---	---	---	---	capture		Missense_Mutation	SNP	6302384	6302384	9787	8	A	G	G	16	16	MCPH1	G	4	4
PRSS55	203074	broad.mit.edu	37	8	10390507	10390507	+	Silent	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10390507C>G	uc003wta.2	+	4	705	c.690C>G	c.(688-690)ACC>ACG	p.T230T	uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	hypothetical protein LOC203074 precursor	230	Extracellular (Potential).|Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	10390507	10390507	13085	8	C	G	G	21	21	PRSS55	G	3	3
TUSC3	7991	broad.mit.edu	37	8	15601052	15601052	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:15601052G>A	uc003wwt.2	+	8	1078	c.868G>A	c.(868-870)GCT>ACT	p.A290T	TUSC3_uc003wwu.2_Missense_Mutation_p.A290T|TUSC3_uc003wwv.2_Missense_Mutation_p.A290T|TUSC3_uc003www.2_Missense_Mutation_p.A290T|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Silent_p.P268P	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	290	Helical; (Potential).				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)														---	---	---	---	capture		Missense_Mutation	SNP	15601052	15601052	17334	8	G	A	A	38	38	TUSC3	A	1	1
PPP2R2A	5520	broad.mit.edu	37	8	26218532	26218532	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26218532C>T	uc003xeu.2	+	6	804	c.502C>T	c.(502-504)CCA>TCA	p.P168S	PPP2R2A_uc003xek.2_Intron|PPP2R2A_uc011laf.1_Missense_Mutation_p.P178S	NM_002717	NP_002708	P63151	2ABA_HUMAN	alpha isoform of regulatory subunit B55, protein	168					protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)														---	---	---	---	capture		Missense_Mutation	SNP	26218532	26218532	12820	8	C	T	T	30	30	PPP2R2A	T	2	2
ZNF395	55893	broad.mit.edu	37	8	28210186	28210186	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28210186G>A	uc003xgq.2	-	6	912	c.824C>T	c.(823-825)TCT>TTT	p.S275F	ZNF395_uc003xgt.2_Missense_Mutation_p.S275F|ZNF395_uc003xgr.2_Missense_Mutation_p.S275F|ZNF395_uc003xgs.2_Missense_Mutation_p.S275F	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	275					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)														---	---	---	---	capture		Missense_Mutation	SNP	28210186	28210186	18474	8	G	A	A	33	33	ZNF395	A	2	2
FBXO16	157574	broad.mit.edu	37	8	28321168	28321168	+	Silent	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28321168A>G	uc003xgu.2	-	4	401	c.303T>C	c.(301-303)TTT>TTC	p.F101F	ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Silent_p.F88F|FBXO16_uc003xgw.2_Silent_p.F88F	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	F-box only protein 16	101	F-box.									ovary(1)	1		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)														---	---	---	---	capture		Silent	SNP	28321168	28321168	5966	8	A	G	G	1	1	FBXO16	G	4	4
PRKDC	5591	broad.mit.edu	37	8	48761777	48761777	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48761777C>A	uc003xqi.2	-	55	7275	c.7218G>T	c.(7216-7218)GAG>GAT	p.E2406D	PRKDC_uc003xqj.2_Missense_Mutation_p.E2406D|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2406					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---	capture		Missense_Mutation	SNP	48761777	48761777	12964	8	C	A	A	24	24	PRKDC	A	2	2
PRKDC	5591	broad.mit.edu	37	8	48855900	48855900	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48855900C>T	uc003xqi.2	-	10	892	c.835G>A	c.(835-837)GCA>ACA	p.A279T	PRKDC_uc003xqj.2_Missense_Mutation_p.A279T|PRKDC_uc011ldh.1_Missense_Mutation_p.A279T	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	279					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---	capture		Missense_Mutation	SNP	48855900	48855900	12964	8	C	T	T	25	25	PRKDC	T	2	2
MCM4	4173	broad.mit.edu	37	8	48883188	48883188	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48883188C>A	uc003xqk.1	+	12	1647	c.1552C>A	c.(1552-1554)CAG>AAG	p.Q518K	MCM4_uc003xql.1_Missense_Mutation_p.Q518K|MCM4_uc011ldi.1_Missense_Mutation_p.Q505K	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	518	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)																---	---	---	---	capture		Missense_Mutation	SNP	48883188	48883188	9778	8	C	A	A	21	21	MCM4	A	2	2
PXDNL	137902	broad.mit.edu	37	8	52252215	52252215	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52252215A>T	uc003xqu.3	-	21	4216	c.4115T>A	c.(4114-4116)ATT>AAT	p.I1372N	PXDNL_uc003xqt.3_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1372					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)																---	---	---	---	capture		Missense_Mutation	SNP	52252215	52252215	13306	8	A	T	T	4	4	PXDNL	T	4	4
PCMTD1	115294	broad.mit.edu	37	8	52733117	52733117	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52733117A>G	uc003xqx.3	-	6	1209	c.868T>C	c.(868-870)TTT>CTT	p.F290L	PCMTD1_uc011ldm.1_Missense_Mutation_p.F160L|PCMTD1_uc003xqw.3_Missense_Mutation_p.F290L|PCMTD1_uc011ldn.1_Missense_Mutation_p.F102L|PCMTD1_uc010lya.2_Missense_Mutation_p.F214L	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	290						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)																---	---	---	---	capture		Missense_Mutation	SNP	52733117	52733117	12006	8	A	G	G	4	4	PCMTD1	G	4	4
NSMAF	8439	broad.mit.edu	37	8	59509949	59509949	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59509949G>T	uc003xtt.2	-	21	2003	c.1789C>A	c.(1789-1791)CCA>ACA	p.P597T	NSMAF_uc011lee.1_Missense_Mutation_p.P628T	NM_003580	NP_003571	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation	597					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			ovary(1)	1		all_lung(136;0.174)|Lung NSC(129;0.2)																---	---	---	---	capture		Missense_Mutation	SNP	59509949	59509949	11079	8	G	T	T	43	43	NSMAF	T	2	2
TRIM55	84675	broad.mit.edu	37	8	67040589	67040589	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67040589G>T	uc003xvv.2	+	2	445	c.219G>T	c.(217-219)GGG>GGT	p.G73G	TRIM55_uc003xvu.2_Silent_p.G73G|TRIM55_uc003xvw.2_Silent_p.G73G|TRIM55_uc003xvx.2_Silent_p.G73G	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	tripartite motif-containing 55 isoform 1	73						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)															---	---	---	---	capture		Silent	SNP	67040589	67040589	17075	8	G	T	T	43	43	TRIM55	T	2	2
ZFHX4	79776	broad.mit.edu	37	8	77767709	77767709	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77767709C>G	uc003yav.2	+	10	8804	c.8417C>G	c.(8416-8418)CCT>CGT	p.P2806R	ZFHX4_uc003yau.1_Missense_Mutation_p.P2851R|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2806R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2806						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	77767709	77767709	18223	8	C	G	G	24	24	ZFHX4	G	3	3
POP1	10940	broad.mit.edu	37	8	99148753	99148753	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99148753C>A	uc003yij.3	+	8	1155	c.1055C>A	c.(1054-1056)CCC>CAC	p.P352H	POP1_uc011lgv.1_Missense_Mutation_p.P352H|POP1_uc003yik.2_Missense_Mutation_p.P352H	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	352					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)															---	---	---	---	capture		Missense_Mutation	SNP	99148753	99148753	12680	8	C	A	A	22	22	POP1	A	2	2
POP1	10940	broad.mit.edu	37	8	99149138	99149138	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99149138C>A	uc003yij.3	+	9	1418	c.1318C>A	c.(1318-1320)CAC>AAC	p.H440N	POP1_uc011lgv.1_Missense_Mutation_p.H440N|POP1_uc003yik.2_Missense_Mutation_p.H440N	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	440					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)															---	---	---	---	capture		Missense_Mutation	SNP	99149138	99149138	12680	8	C	A	A	21	21	POP1	A	2	2
KLF10	7071	broad.mit.edu	37	8	103664484	103664484	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103664484C>G	uc011lhk.1	-	2	332	c.178G>C	c.(178-180)GTT>CTT	p.V60L	KLF10_uc011lhj.1_Missense_Mutation_p.V49L	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Kruppel-like factor 10 isoform a	60					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)													OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	103664484	103664484	8650	8	C	G	G	19	19	KLF10	G	3	3
TRPS1	7227	broad.mit.edu	37	8	116430602	116430602	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116430602C>A	uc003ynz.2	-	5	3199	c.2740G>T	c.(2740-2742)GGA>TGA	p.G914*	TRPS1_uc011lhy.1_Nonsense_Mutation_p.G918*|TRPS1_uc003yny.2_Nonsense_Mutation_p.G927*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.G914*	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	914	GATA-type.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)											Langer-Giedion_syndrome				---	---	---	---	capture		Nonsense_Mutation	SNP	116430602	116430602	17144	8	C	A	A	23	23	TRPS1	A	5	1
RAD21	5885	broad.mit.edu	37	8	117869513	117869513	+	Silent	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:117869513T>C	uc003yod.2	-	6	969	c.681A>G	c.(679-681)GGA>GGG	p.G227G		NM_006265	NP_006256	O60216	RAD21_HUMAN	RAD21 homolog	227					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)																	---	---	---	---	capture		Silent	SNP	117869513	117869513	13440	8	T	C	C	62	62	RAD21	C	4	4
ZHX2	22882	broad.mit.edu	37	8	123964361	123964361	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:123964361A>T	uc003ypk.1	+	3	1178	c.611A>T	c.(610-612)GAG>GTG	p.E204V		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	204	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)															---	---	---	---	capture		Missense_Mutation	SNP	123964361	123964361	18267	8	A	T	T	11	11	ZHX2	T	4	4
C8orf76	84933	broad.mit.edu	37	8	124238808	124238808	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124238808G>T	uc003yqc.1	-	5	911	c.880C>A	c.(880-882)CAG>AAG	p.Q294K	C8orf76_uc003yqd.2_Missense_Mutation_p.Q262K	NM_032847	NP_116236	Q96K31	CH076_HUMAN	hypothetical protein LOC84933	294							binding			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)															---	---	---	---	capture		Missense_Mutation	SNP	124238808	124238808	2549	8	G	T	T	45	45	C8orf76	T	2	2
C8orf76	84933	broad.mit.edu	37	8	124250108	124250108	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124250108T>C	uc003yqc.1	-	3	318	c.287A>G	c.(286-288)CAG>CGG	p.Q96R	C8orf76_uc003yqd.2_Missense_Mutation_p.Q64R	NM_032847	NP_116236	Q96K31	CH076_HUMAN	hypothetical protein LOC84933	96							binding			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)															---	---	---	---	capture		Missense_Mutation	SNP	124250108	124250108	2549	8	T	C	C	55	55	C8orf76	C	4	4
FAM91A1	157769	broad.mit.edu	37	8	124810378	124810378	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124810378C>A	uc003yqv.2	+	16	1521	c.1460C>A	c.(1459-1461)CCT>CAT	p.P487H	FAM91A1_uc011lik.1_Missense_Mutation_p.P487H|FAM91A1_uc011lil.1_Missense_Mutation_p.P245H	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	487										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)															---	---	---	---	capture		Missense_Mutation	SNP	124810378	124810378	5887	8	C	A	A	24	24	FAM91A1	A	2	2
PHF20L1	51105	broad.mit.edu	37	8	133816063	133816063	+	Splice_Site	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133816063G>T	uc003ytt.2	+	7	833	c.508_splice	c.e7-1	p.D170_splice	PHF20L1_uc003ytr.2_Splice_Site_p.D144_splice|PHF20L1_uc010mdv.2_Splice_Site_p.D144_splice|PHF20L1_uc003yts.2_Splice_Site_p.D170_splice|PHF20L1_uc011lja.1_Splice_Site_p.D144_splice|PHF20L1_uc003ytu.1_Splice_Site|PHF20L1_uc003ytv.2_Missense_Mutation_p.E8D	NM_016018	NP_057102			PHD finger protein 20-like 1 isoform 1								nucleic acid binding|zinc ion binding			ovary(2)	2	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)															---	---	---	---	capture		Splice_Site	SNP	133816063	133816063	12255	8	G	T	T	35	35	PHF20L1	T	5	2
FAM135B	51059	broad.mit.edu	37	8	139164022	139164022	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139164022G>A	uc003yuy.2	-	13	2867	c.2696C>T	c.(2695-2697)GCA>GTA	p.A899V	FAM135B_uc003yux.2_Missense_Mutation_p.A800V|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A461V|FAM135B_uc003yvb.2_Missense_Mutation_p.A461V	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	899										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	139164022	139164022	5646	8	G	A	A	46	46	FAM135B	A	2	2
FAM135B	51059	broad.mit.edu	37	8	139277998	139277998	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139277998G>C	uc003yuy.2	-	4	416	c.245C>G	c.(244-246)CCC>CGC	p.P82R	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	82										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	139277998	139277998	5646	8	G	C	C	43	43	FAM135B	C	3	3
FAM135B	51059	broad.mit.edu	37	8	139323156	139323156	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139323156G>T	uc003yuy.2	-	3	256	c.85C>A	c.(85-87)CAG>AAG	p.Q29K	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	29										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	139323156	139323156	5646	8	G	T	T	47	47	FAM135B	T	2	2
ZNF16	7564	broad.mit.edu	37	8	146156985	146156985	+	Silent	SNP	C	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:146156985C>T	uc003zet.2	-	4	1375	c.1188G>A	c.(1186-1188)CAG>CAA	p.Q396Q	ZNF16_uc003zeu.2_Silent_p.Q396Q	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	396	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)														---	---	---	---	capture		Silent	SNP	146156985	146156985	18329	8	C	T	T	32	32	ZNF16	T	2	2
C9orf93	203238	broad.mit.edu	37	9	15744423	15744423	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:15744423G>T	uc003zmd.2	+	17	2517	c.2202G>T	c.(2200-2202)ATG>ATT	p.M734I	C9orf93_uc010mih.1_Missense_Mutation_p.M742I|C9orf93_uc003zme.2_Missense_Mutation_p.M649I|C9orf93_uc011lmu.1_Missense_Mutation_p.M742I|C9orf93_uc003zmf.1_Missense_Mutation_p.M42I	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	hypothetical protein LOC203238	734											0				GBM - Glioblastoma multiforme(50;4.84e-07)														---	---	---	---	capture		Missense_Mutation	SNP	15744423	15744423	2622	9	G	T	T	47	47	C9orf93	T	2	2
TAF1L	138474	broad.mit.edu	37	9	32630224	32630224	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32630224G>T	uc003zrg.1	-	1	5444	c.5354C>A	c.(5353-5355)CCT>CAT	p.P1785H		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1785					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)														---	---	---	---	capture		Missense_Mutation	SNP	32630224	32630224	16044	9	G	T	T	35	35	TAF1L	T	2	2
TRPM3	80036	broad.mit.edu	37	9	73151043	73151043	+	Silent	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73151043G>T	uc004aid.2	-	25	5194	c.4950C>A	c.(4948-4950)ACC>ACA	p.T1650T	TRPM3_uc004ahu.2_Silent_p.T1492T|TRPM3_uc004ahv.2_Silent_p.T1452T|TRPM3_uc004ahw.2_Silent_p.T1522T|TRPM3_uc004ahx.2_Silent_p.T1509T|TRPM3_uc004ahy.2_Silent_p.T1512T|TRPM3_uc004ahz.2_Silent_p.T1499T|TRPM3_uc004aia.2_Silent_p.T1497T|TRPM3_uc004aib.2_Silent_p.T1487T|TRPM3_uc004aic.2_Intron	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1675	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9																		---	---	---	---	capture		Silent	SNP	73151043	73151043	17138	9	G	T	T	47	47	TRPM3	T	2	2
TRPM6	140803	broad.mit.edu	37	9	77377583	77377583	+	Missense_Mutation	SNP	C	A	A	rs147802849		TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77377583C>A	uc004ajl.1	-	26	4242	c.4004G>T	c.(4003-4005)AGG>ATG	p.R1335M	TRPM6_uc004ajk.1_Missense_Mutation_p.R1330M|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R291M	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1335	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	77377583	77377583	17141	9	C	A	A	24	24	TRPM6	A	2	2
ZCCHC6	79670	broad.mit.edu	37	9	88938454	88938454	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88938454C>A	uc004aoq.2	-	13	2426	c.2211G>T	c.(2209-2211)AAG>AAT	p.K737N	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.K614N|ZCCHC6_uc004aou.2_Missense_Mutation_p.K737N	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	737					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	88938454	88938454	18180	9	C	A	A	24	24	ZCCHC6	A	2	2
FAM22G	441457	broad.mit.edu	37	9	99699593	99699593	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99699593G>A	uc004awq.1	+	5	1945	c.1230G>A	c.(1228-1230)GTG>GTA	p.V410V	HIATL2_uc004awr.1_Intron	NM_001045477	NP_001038942	Q5VZR2	FA22G_HUMAN	hypothetical protein LOC441457	410										skin(1)	1		Acute lymphoblastic leukemia(62;0.0527)																---	---	---	---	capture		Silent	SNP	99699593	99699593	5761	9	G	A	A	47	47	FAM22G	A	2	2
TLR4	7099	broad.mit.edu	37	9	120475065	120475065	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:120475065C>A	uc004bjz.2	+	3	950	c.659C>A	c.(658-660)CCA>CAA	p.P220Q	TLR4_uc004bka.2_Missense_Mutation_p.P180Q|TLR4_uc004bkb.2_Missense_Mutation_p.P20Q	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	220	LRR 7.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16																		---	---	---	---	capture		Missense_Mutation	SNP	120475065	120475065	16483	9	C	A	A	21	21	TLR4	A	2	2
OR1L3	26735	broad.mit.edu	37	9	125437632	125437632	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125437632C>G	uc011lzb.1	+	1	224	c.224C>G	c.(223-225)ACA>AGA	p.T75R		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	125437632	125437632	11370	9	C	G	G	17	17	OR1L3	G	3	3
BAT2L1	84726	broad.mit.edu	37	9	134351582	134351582	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134351582C>A	uc004can.3	+	15	4121	c.4066C>A	c.(4066-4068)CGC>AGC	p.R1356S	BAT2L1_uc010mzj.1_Missense_Mutation_p.R939S|BAT2L1_uc004cao.3_Missense_Mutation_p.R714S	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1356							protein binding				0																OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	134351582	134351582	1341	9	C	A	A	23	23	BAT2L1	A	1	1
LCN1	3933	broad.mit.edu	37	9	138416976	138416976	+	Splice_Site	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138416976A>G	uc004cfz.1	+	6	564	c.506_splice	c.e6-2	p.E169_splice	LCN1_uc004cga.1_Splice_Site_p.E169_splice	NM_002297	NP_002288			lipocalin 1 precursor						proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)														---	---	---	---	capture		Splice_Site	SNP	138416976	138416976	9004	9	A	G	G	7	7	LCN1	G	5	4
INPP5E	56623	broad.mit.edu	37	9	139333230	139333230	+	Silent	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139333230C>A	uc004cho.2	-	1	1027	c.642G>T	c.(640-642)TCG>TCT	p.S214S	INPP5E_uc010nbm.2_Silent_p.S214S	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase E	214	13 X 4 AA repeats of P-X-X-P.					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			skin(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)														---	---	---	---	capture		Silent	SNP	139333230	139333230	8058	9	C	A	A	23	23	INPP5E	A	1	1
NELF	26012	broad.mit.edu	37	9	140352952	140352952	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140352952G>T	uc004cna.2	-	2	353	c.121C>A	c.(121-123)CGC>AGC	p.R41S	C9orf167_uc011mew.1_Intron|NELF_uc010nci.2_5'Flank|NELF_uc011mey.1_5'Flank|NELF_uc011mez.1_Missense_Mutation_p.R41S|NELF_uc004cmz.2_Missense_Mutation_p.R41S|NELF_uc004cnc.2_Missense_Mutation_p.R41S|NELF_uc004cnb.2_Missense_Mutation_p.R41S	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	41						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)														---	---	---	---	capture		Missense_Mutation	SNP	140352952	140352952	10731	9	G	T	T	39	39	NELF	T	1	1
CSF2RA	1438	broad.mit.edu	37	X	1401640	1401640	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1401640A>C	uc010nct.2	+	4	366	c.44A>C	c.(43-45)CAC>CCC	p.H15P	CSF2RA_uc011mhb.1_Missense_Mutation_p.H15P|CSF2RA_uc004cpq.2_Missense_Mutation_p.H15P|CSF2RA_uc004cpn.2_Missense_Mutation_p.H15P|CSF2RA_uc004cpo.2_Missense_Mutation_p.H15P|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.H15P|CSF2RA_uc010ncv.2_Missense_Mutation_p.H15P|CSF2RA_uc004cpr.2_Missense_Mutation_p.H15P	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	15						extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)													---	---	---	---	capture		Missense_Mutation	SNP	1401640	1401640	4075	23	A	C	C	6	6	CSF2RA	C	4	4
SFRS17A	8227	broad.mit.edu	37	X	1712489	1712489	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1712489C>A	uc004cqa.2	+	2	330	c.134C>A	c.(133-135)TCC>TAC	p.S45Y	SFRS17A_uc010ncx.1_Missense_Mutation_p.S45Y|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	45					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---	capture		Missense_Mutation	SNP	1712489	1712489	14663	23	C	A	A	30	30	SFRS17A	A	2	2
MXRA5	25878	broad.mit.edu	37	X	3238177	3238177	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3238177C>A	uc004crg.3	-	5	5706	c.5549G>T	c.(5548-5550)GGG>GTG	p.G1850V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	1850						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---	capture		Missense_Mutation	SNP	3238177	3238177	10397	23	C	A	A	22	22	MXRA5	A	2	2
FAM47A	158724	broad.mit.edu	37	X	34148818	34148818	+	Silent	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34148818C>G	uc004ddg.2	-	1	1611	c.1578G>C	c.(1576-1578)CGG>CGC	p.R526R		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	526										ovary(4)|central_nervous_system(1)	5																		---	---	---	---	capture		Silent	SNP	34148818	34148818	5790	23	C	G	G	30	30	FAM47A	G	3	3
FAM47A	158724	broad.mit.edu	37	X	34149076	34149076	+	Silent	SNP	G	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34149076G>A	uc004ddg.2	-	1	1353	c.1320C>T	c.(1318-1320)GAC>GAT	p.D440D		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	440										ovary(4)|central_nervous_system(1)	5																		---	---	---	---	capture		Silent	SNP	34149076	34149076	5790	23	G	A	A	40	40	FAM47A	A	1	1
DGKK	139189	broad.mit.edu	37	X	50121135	50121135	+	Nonsense_Mutation	SNP	T	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:50121135T>A	uc010njr.1	-	23	3133	c.3073A>T	c.(3073-3075)AGA>TGA	p.R1025*		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	1025					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)																	---	---	---	---	capture		Nonsense_Mutation	SNP	50121135	50121135	4651	23	T	A	A	53	53	DGKK	A	5	4
KIF4A	24137	broad.mit.edu	37	X	69626794	69626794	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69626794G>T	uc004dyg.2	+	28	3251	c.3124G>T	c.(3124-3126)GAG>TAG	p.E1042*	KIF4A_uc010nkw.2_Nonsense_Mutation_p.E1042*	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	1042	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	69626794	69626794	8614	23	G	T	T	37	37	KIF4A	T	5	1
NRK	203447	broad.mit.edu	37	X	105149285	105149285	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105149285C>G	uc004emd.2	+	10	1097	c.794C>G	c.(793-795)GCT>GGT	p.A265G	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	265	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14															HNSCC(51;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	105149285	105149285	11060	23	C	G	G	28	28	NRK	G	3	3
DOCK11	139818	broad.mit.edu	37	X	117749584	117749584	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117749584G>C	uc004eqp.2	+	30	3265	c.3202G>C	c.(3202-3204)GAA>CAA	p.E1068Q	DOCK11_uc004eqq.2_Missense_Mutation_p.E834Q	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1068					blood coagulation	cytosol	GTP binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	117749584	117749584	4870	23	G	C	C	45	45	DOCK11	C	3	3
DOCK11	139818	broad.mit.edu	37	X	117814528	117814528	+	Silent	SNP	A	G	G			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117814528A>G	uc004eqp.2	+	49	5607	c.5544A>G	c.(5542-5544)ACA>ACG	p.T1848T	DOCK11_uc004eqq.2_Silent_p.T1627T	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1848	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3																		---	---	---	---	capture		Silent	SNP	117814528	117814528	4870	23	A	G	G	7	7	DOCK11	G	4	4
ZCCHC12	170261	broad.mit.edu	37	X	117959765	117959765	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117959765G>T	uc004equ.2	+	4	1031	c.558G>T	c.(556-558)AGG>AGT	p.R186S		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	117959765	117959765	18169	23	G	T	T	43	43	ZCCHC12	T	2	2
AFF2	2334	broad.mit.edu	37	X	148037237	148037237	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148037237G>C	uc004fcp.2	+	11	2141	c.1662G>C	c.(1660-1662)GAG>GAC	p.E554D	AFF2_uc004fcq.2_Missense_Mutation_p.E544D|AFF2_uc004fcr.2_Missense_Mutation_p.E515D|AFF2_uc011mxb.1_Missense_Mutation_p.E519D|AFF2_uc004fcs.2_Missense_Mutation_p.E521D|AFF2_uc011mxc.1_Missense_Mutation_p.E195D	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	554					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	148037237	148037237	358	23	G	C	C	33	33	AFF2	C	3	3
VAMP7	6845	broad.mit.edu	37	X	155149476	155149476	+	Splice_Site	SNP	G	T	T			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:155149476G>T	uc004fnr.2	+	6	608	c.434_splice	c.e6-1	p.D145_splice	VAMP7_uc004fnt.2_Splice_Site_p.D104_splice|VAMP7_uc011naa.1_Splice_Site_p.D106_splice|VAMP7_uc011nab.1_Splice_Site_p.D44_splice|VAMP7_uc004fns.2_Intron|VAMP7_uc011nac.1_Splice_Site_p.D78_splice	NM_005638	NP_005629			vesicle-associated membrane protein 7 isoform 1						calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---	capture		Splice_Site	SNP	155149476	155149476	17682	23	G	T	T	33	33	VAMP7	T	5	2
RBMY1A1	5940	broad.mit.edu	37	Y	23702641	23702641	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3421-01	TCGA-18-3421-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:23702641C>A	uc004fuq.3	+	4	483	c.371C>A	c.(370-372)CCC>CAC	p.P124H	RBMY1A1_uc010nxa.2_Missense_Mutation_p.P124H|RBMY1A1_uc004fur.3_Intron|RBMY1A1_uc011nbd.1_Missense_Mutation_p.P89H	NM_001006120	NP_001006120	Q15414	RBY1A_HUMAN	RNA binding motif protein, Y-linked, family 1,	124					mRNA processing|RNA splicing|spermatogenesis	nucleus	nucleotide binding|RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	23702641	23702641	13618	24	C	A	A	22	22	RBMY1A1	A	2	2
