Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KLHL17	339451	broad.mit.edu	37	1	900534	900534	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:900534C>T	uc001aca.1	+	12	1999	c.1892C>T	c.(1891-1893)TCC>TTC	p.S631F	KLHL17_uc001acc.1_RNA|PLEKHN1_uc001acd.2_5'Flank|PLEKHN1_uc001acf.2_5'Flank|PLEKHN1_uc001ace.2_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	631	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCGCCGCCATCCTCCCCGACG	0.662													17	16					0	0	0.000958276	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854230	12854230	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:12854230G>A	uc001auj.1	+	3	557	c.454G>A	c.(454-456)GAC>AAC	p.D152N		NM_023013	NP_075389	O95521	PRAM1_HUMAN	PRAME family member 1	152											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGTTCATAGACATCTGCCT	0.522													87	167					0	0	0.000781405	0	0
UBR4	23352	broad.mit.edu	37	1	19433196	19433196	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:19433196G>A	uc001bbi.2	-	83	12264	c.12260C>T	c.(12259-12261)CCC>CTC	p.P4087L	UBR4_uc001bbg.2_5'Flank|UBR4_uc001bbh.2_5'Flank	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	4087					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGATTTGCTGGGGGCTTTCCC	0.547													41	75					0	0	0.000374591	0	0
PQLC2	54896	broad.mit.edu	37	1	19644249	19644249	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:19644249G>T	uc001bby.2	+	3	430	c.78G>T	c.(76-78)TTG>TTT	p.L26F	PQLC2_uc001bbz.2_Intron|PQLC2_uc001bca.2_Missense_Mutation_p.L26F|PQLC2_uc001bcb.2_Intron|PQLC2_uc001bcc.2_5'UTR	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	26	Extracellular (Potential).					integral to membrane					0		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGATGTGTTGGGTGAATGTG	0.607													9	277					0.000442599	0.00516301	0.000442599	1	0
CNKSR1	10256	broad.mit.edu	37	1	26509700	26509700	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:26509700C>T	uc001bln.3	+	7	695	c.637C>T	c.(637-639)CAC>TAC	p.H213Y	CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.H213Y|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	213	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCTAGAAATTCACACCACCAG	0.622													49	119					0	0	0.000781405	0	0
CSMD2	114784	broad.mit.edu	37	1	34174812	34174812	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:34174812G>A	uc001bxn.1	-	22	3362	c.3333C>T	c.(3331-3333)TCC>TCT	p.S1111S	CSMD2_uc001bxm.1_Silent_p.S1151S|CSMD2_uc001bxo.1_Silent_p.S24S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1111	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAAGTTGGGGGACAGCAAAG	0.478													11	29					0	0	0.000978159	0	0
ZMYM4	9202	broad.mit.edu	37	1	35853067	35853067	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:35853067C>T	uc001byt.2	+	13	2205	c.2125C>T	c.(2125-2127)CAG>TAG	p.Q709*	ZMYM4_uc009vuu.2_Nonsense_Mutation_p.Q677*|ZMYM4_uc001byu.2_Nonsense_Mutation_p.Q385*|ZMYM4_uc009vuv.2_Nonsense_Mutation_p.Q448*	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	709	MYM-type 7.				multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAAATGTTTCAGTTCTGTGG	0.294													14	36					0	0	0.000308642	0	0
PLK3	1263	broad.mit.edu	37	1	45270368	45270368	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:45270368G>A	uc001cmn.2	+	13	1652	c.1552G>A	c.(1552-1554)GTG>ATG	p.V518M	PLK3_uc001cmo.2_Intron	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	518	POLO box 1.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					CTCCTTCTCCGTGGGTGCTGT	0.617													16	145					0	0	0.00121646	0	0
AMIGO1	57463	broad.mit.edu	37	1	110051061	110051061	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:110051061G>A	uc001dxx.3	-	2	856	c.474C>T	c.(472-474)GCC>GCT	p.A158A		NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	AMIGO protein precursor	158	Extracellular (Potential).				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				ovary(1)|breast(1)	2		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCTGCAGCTGGGCCATGTCAT	0.542													33	60					0	0	0.000409698	0	0
HSD3B2	3284	broad.mit.edu	37	1	119985600	119985600	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:119985600C>T	uc001ehu.2	+	4	549	c.407C>T	c.(406-408)ACC>ATC	p.T136I				P26439	3BHS2_HUMAN	RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3-beta-HSD II; Includes:   RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase;            EC=1.1.1.145;   AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase;   AltName: Full=Progesterone reductase; Includes:   RecName: Full=Steroid Delta-isomerase;            EC=5.3.3.1;   AltName: Full=Delta-5-3-ketosteroid isomerase;	Error:Variant_position_missing_in_P26439_after_alignment					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			ovary(2)	2	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GTCATCCACACCGCCTGTATC	0.507													8	16					0	0	0.000274275	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	T	T	rs4996269	by1000genomes	TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:145296403C>T	uc001end.3	+	3	360	c.325C>T	c.(325-327)CTA>TTA	p.L109L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Silent_p.L109L|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	109											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517													9	270					0	0	0.000442599	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367820	145367820	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:145367820C>T	uc001end.3	+	85	10676	c.10641C>T	c.(10639-10641)CCC>CCT	p.P3547P	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3472											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CACCATGCCCCAGGTGACTTT	0.269													11	57					0	0	0.000978159	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562599	145562599	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:145562599C>T	uc001eob.1	+	10	2395	c.2287C>T	c.(2287-2289)CCG>TCG	p.P763S	NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.P606S	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	763	Potential.									ovary(4)|skin(1)	5	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCCTTGTCCCCGTGTAGGGA	0.662													3	4					0	0	6.4e-05	0	0
OR10R2	343406	broad.mit.edu	37	1	158450564	158450564	+	Silent	SNP	G	A	A	rs146808200		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:158450564G>A	uc010pik.1	+	1	897	c.897G>A	c.(895-897)ACG>ACA	p.T299T	uc001fso.1_RNA	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R,	299	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)					TGACATACACGATTGTCACTC	0.433													24	25					0	0	0.000720815	0	0
ILDR2	387597	broad.mit.edu	37	1	166891843	166891843	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:166891843T>A	uc001gdx.1	-	8	1254	c.1198A>T	c.(1198-1200)AGC>TGC	p.S400C		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	400	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						TGCCTGAAGCTCTCTCGATCC	0.597													50	142					0	0	0.000781405	0	0
ILDR2	387597	broad.mit.edu	37	1	166891849	166891849	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:166891849G>A	uc001gdx.1	-	8	1248	c.1192C>T	c.(1192-1194)CGA>TGA	p.R398*		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	398	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1						AAGCTCTCTCGATCCTCTTTG	0.597													55	152					0	0	0.000781405	0	0
GPR161	23432	broad.mit.edu	37	1	168065750	168065750	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:168065750G>A	uc001gfc.2	-	5	1409	c.1095C>T	c.(1093-1095)ATC>ATT	p.I365I	GPR161_uc001gfb.2_Silent_p.I233I|GPR161_uc010pll.1_Silent_p.I275I|GPR161_uc010plm.1_Silent_p.I251I|GPR161_uc009wvo.2_Silent_p.I382I|GPR161_uc001gfd.2_Silent_p.I365I|GPR161_uc010pln.1_Silent_p.I385I|GPR161_uc001gfe.1_Silent_p.I365I	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	365	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)					AGTTACCTGTGATCCTGTTGG	0.522													13	29					0	0	0.000308642	0	0
F5	2153	broad.mit.edu	37	1	169493087	169493087	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:169493087C>T	uc001ggg.1	-	20	5989	c.5844G>A	c.(5842-5844)TGG>TGA	p.W1948*		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1948	F5/8 type C 1.				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)	TTTCTACACTCCAAGCATTAT	0.323													58	116					0	0	0.000781405	0	0
FMO1	2326	broad.mit.edu	37	1	171251405	171251405	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:171251405C>T	uc009wvz.2	+	7	1252	c.1116C>T	c.(1114-1116)ATC>ATT	p.I372I	FMO1_uc010pme.1_Silent_p.I309I|FMO1_uc001ghl.2_Silent_p.I372I|FMO1_uc001ghm.2_Silent_p.I372I|FMO1_uc001ghn.2_Silent_p.I372I	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	372					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTGGCCTCATCAAACCCTTGG	0.468													26	64					0	0	0.000227799	0	0
FAM5C	339479	broad.mit.edu	37	1	190068163	190068163	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:190068163G>A	uc001gse.1	-	8	1518	c.1286C>T	c.(1285-1287)CCG>CTG	p.P429L	FAM5C_uc010pot.1_Missense_Mutation_p.P327L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	429						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)					CTGGTCATTCGGACACGTGCA	0.597													13	20					0	0	0.000151284	0	0
IPO9	55705	broad.mit.edu	37	1	201839883	201839883	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:201839883C>T	uc001gwz.2	+	18	2356	c.2306C>T	c.(2305-2307)ACC>ATC	p.T769I		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	769					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						CTTGTTTCCACCCTCATCTCC	0.582													10	58					0	0	0.000673444	0	0
LYST	1130	broad.mit.edu	37	1	235922514	235922514	+	Silent	SNP	T	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:235922514T>G	uc001hxj.2	-	23	6814	c.6639A>C	c.(6637-6639)TCA>TCC	p.S2213S	LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	2213					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGTCATCTTCTGACCTGGGTT	0.542									Chediak-Higashi_syndrome				27	78					0	0	0.00058488	0	0
RYR2	6262	broad.mit.edu	37	1	237921070	237921071	+	Nonsense_Mutation	DNP	AC	GT	GT			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:237921070_237921071AC>GT	uc001hyl.1	+	82	11439_11440	c.11319_11320AC>GT	c.(11317-11322)GTACAG>GTGTAG	p.Q3774*	RYR2_uc010pya.1_Nonsense_Mutation_p.Q189*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3774					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)			ACTCCACAGTACAGCAGGTAAC	0.337													21	49					0	0	6.4e-05	0	0
OR2B11	127623	broad.mit.edu	37	1	247614472	247614472	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:247614472G>A	uc010pyx.1	-	1	813	c.813C>T	c.(811-813)TCC>TCT	p.S271S		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	271	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCTGCTCTTGGGAGTAGCTGG	0.493													45	73					0	0	0.000781405	0	0
PITRM1	10531	broad.mit.edu	37	10	3191935	3191935	+	Silent	SNP	G	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:3191935G>T	uc010qah.1	-	15	1685	c.1653C>A	c.(1651-1653)ATC>ATA	p.I551I	PITRM1_uc001igr.1_Silent_p.I583I|PITRM1_uc001igt.1_Silent_p.I583I|PITRM1_uc009xhv.1_Silent_p.I148I|PITRM1_uc001igu.1_Silent_p.I575I|PITRM1_uc010qai.1_Silent_p.I554I			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	551					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1						ACTGAACAGGGATATCTCCAG	0.438													17	73					5.03518e-11	5.92585e-10	0.000958276	1	0
AKR1C3	8644	broad.mit.edu	37	10	5139644	5139644	+	Nonsense_Mutation	SNP	C	T	T	rs118150330	byFrequency	TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:5139644C>T	uc001ihr.2	+	3	454	c.271C>T	c.(271-273)CGA>TGA	p.R91*	AKR1C3_uc010qap.1_Nonsense_Mutation_p.R68*|AKR1C3_uc010qaq.1_Nonsense_Mutation_p.R91*|AKR1C3_uc001ihu.2_Nonsense_Mutation_p.R91*	NM_003739	NP_003730	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	91					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			skin(1)	1					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CACTTTTCATCGACCAGAGTT	0.393													37	51					0	0	0.000270559	0	0
ANKRD26	22852	broad.mit.edu	37	10	27301996	27301997	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:27301996_27301997CC>TT	uc001ith.2	-	32	4936_4937	c.4764_4765GG>AA	c.(4762-4767)GTGGAA>GTAAAA	p.E1589K	ANKRD26_uc001itg.2_Missense_Mutation_p.E1276K|ANKRD26_uc009xku.1_Missense_Mutation_p.E1590K	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1589						centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						TGCTGTTTTTCCACAAGAAGTT	0.411													7	18					0	0	6.4e-05	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:38654432A>G	uc010qex.1	+	5	599	c.524A>G	c.(523-525)AAT>AGT	p.N175S	HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);												0						TCATCTCGCAATGCAAGGAAA	0.453													4	48					0	0	0.00024832	0	0
PPYR1	5540	broad.mit.edu	37	10	47087185	47087185	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:47087185C>T	uc001jee.2	+	3	821	c.402C>T	c.(400-402)CTC>CTT	p.L134L	ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.L134L	NM_005972	NP_005963	P50391	NPY4R_HUMAN	pancreatic polypeptide receptor 1	134	Helical; Name=3; (Potential).				blood circulation|digestion|feeding behavior	integral to plasma membrane				ovary(1)|skin(1)	2						CGCTCGTCCTCGTGGCCCTGG	0.567													22	139					0	0	0.00106085	0	0
DNAJC12	56521	broad.mit.edu	37	10	69565428	69565428	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:69565428C>A	uc001jnb.2	-	4	583	c.415G>T	c.(415-417)GAG>TAG	p.E139*		NM_021800	NP_068572	Q9UKB3	DJC12_HUMAN	J domain containing protein 1 isoform a	139					protein folding		heat shock protein binding|unfolded protein binding			breast(1)	1						GAAGCCAGCTCCTCTTTCTTT	0.443													84	112					1.68136e-41	2.00552e-40	0.000781405	1	0
PDE6C	5146	broad.mit.edu	37	10	95385332	95385332	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:95385332G>A	uc001kiu.3	+	5	1003	c.865G>A	c.(865-867)GAA>AAA	p.E289K		NM_006204	NP_006195	P51160	PDE6C_HUMAN	phosphodiesterase 6C	289	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)				TTGCCTCCAGGAATTCTACGA	0.378													4	35					0	0	0.000602214	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118354289	118354289	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:118354289G>A	uc001lco.1	+	5	396	c.378G>A	c.(376-378)AAG>AAA	p.K126K	PNLIPRP1_uc001lcp.2_Silent_p.K126K|PNLIPRP1_uc009xys.1_RNA	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	126					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		TGGACTGGAAGAAGGGCTCCC	0.592													22	35					0	0	0.000586117	0	0
DMBT1	1755	broad.mit.edu	37	10	124402684	124402684	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:124402684C>T	uc001lgk.1	+	53	7118	c.7012C>T	c.(7012-7014)CGC>TGC	p.R2338C	DMBT1_uc001lgl.1_Missense_Mutation_p.R2328C|DMBT1_uc001lgm.1_Missense_Mutation_p.R1710C|DMBT1_uc009xzz.1_Missense_Mutation_p.R2337C|DMBT1_uc010qtx.1_Missense_Mutation_p.R1058C|DMBT1_uc009yab.1_Missense_Mutation_p.R1041C|DMBT1_uc009yac.1_Missense_Mutation_p.R632C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	2338	ZP.				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)				GCCATCTCTTCGCATTGCCCG	0.567													13	51					0	0	0.00121646	0	0
KNDC1	85442	broad.mit.edu	37	10	135025254	135025254	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr10:135025254G>A	uc001llz.1	+	23	4129	c.4128G>A	c.(4126-4128)GAG>GAA	p.E1376E		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	1376					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)		GGCGGGCCGAGGGCAACCCTC	0.667													7	26					0	0	0.000157383	0	0
OR51S1	119692	broad.mit.edu	37	11	4870295	4870295	+	Silent	SNP	C	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:4870295C>G	uc010qyo.1	-	1	144	c.144G>C	c.(142-144)CTG>CTC	p.L48L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S,	48	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCATTTCCCAGTGCAGAGA	0.567													3	81					0	0	0.00024832	0	0
OR10A5	144124	broad.mit.edu	37	11	6867792	6867792	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:6867792G>A	uc001met.1	+	1	879	c.879G>A	c.(877-879)TTG>TTA	p.L293L		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	293	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTACAGCTTGAGAAATAGCG	0.433													22	49					0	0	0.000229342	0	0
OR2D3	120775	broad.mit.edu	37	11	6943038	6943038	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:6943038G>A	uc010rav.1	+	1	806	c.806G>A	c.(805-807)GGG>GAG	p.G269E		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D,	269	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTTCTATGGGTCAGGAATA	0.428													19	39					0	0	0.000958276	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111240	7111240	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:7111240G>A	uc001mfc.2	+	1	1076	c.889G>A	c.(889-891)GGG>AGG	p.G297R		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	297	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCCAGGACGGGGGACACCGCC	0.662													6	22					0	0	8.12818e-05	0	0
LGR4	55366	broad.mit.edu	37	11	27389430	27389430	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:27389430G>C	uc001mrj.3	-	18	3325	c.2840C>G	c.(2839-2841)CCA>CGA	p.P947R	LGR4_uc001mrk.3_Missense_Mutation_p.P923R	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	947	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1						TTTAACTCTTGGTAGATTGTA	0.468													3	69					0	0	6.4e-05	0	0
API5	8539	broad.mit.edu	37	11	43345121	43345122	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:43345121_43345122CC>TT	uc010rfh.1	+	6	858_859	c.685_686CC>TT	c.(685-687)CCC>TTC	p.P229F	API5_uc010rfg.1_Missense_Mutation_p.P218F|API5_uc001mxf.2_Missense_Mutation_p.P229F|API5_uc010rfi.1_Missense_Mutation_p.P175F|API5_uc001mxg.2_Missense_Mutation_p.P103F	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5 isoform a	229					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3						GACCTTCAATCCCTCGGATCCT	0.49													48	105					0	0	6.4e-05	0	0
OR1S2	219958	broad.mit.edu	37	11	57970832	57970832	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:57970832G>A	uc010rkb.1	-	1	822	c.822C>T	c.(820-822)TTC>TTT	p.F274F		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	274	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				TGGAGGAGGGGAAAAAGTACA	0.483													22	53					0	0	0.00047179	0	0
SHANK2	22941	broad.mit.edu	37	11	70336421	70336421	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:70336421C>T	uc001oqc.2	-	19	2589	c.2511G>A	c.(2509-2511)CTG>CTA	p.L837L	SHANK2_uc010rqn.1_Silent_p.L249L|SHANK2_uc001opz.2_Silent_p.L242L|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Silent_p.L239L|SHANK2_uc001opy.2_5'UTR|SHANK2_uc010rqo.1_Silent_p.L50L	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	458					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGGGATGCCCAGAAACGGGG	0.562													26	50					0	0	0.000878237	0	0
EED	8726	broad.mit.edu	37	11	85988165	85988165	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:85988165G>A	uc001pbp.2	+	10	1567	c.1110G>A	c.(1108-1110)ATG>ATA	p.M370I	EED_uc010rtm.1_Missense_Mutation_p.M370I|EED_uc001pbq.2_Missense_Mutation_p.M370I|EED_uc001pbr.2_Missense_Mutation_p.M395I|EED_uc001pbs.2_Missense_Mutation_p.M290I|EED_uc010rtn.1_RNA	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	370	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.|WD 6.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				GGTTTTCTATGGATTTCTGGC	0.333													6	104					0	0	0.000157383	0	0
SLC36A4	120103	broad.mit.edu	37	11	92895975	92895976	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:92895975_92895976CC>AA	uc001pdn.2	-	9	1030_1031	c.933_934GG>TT	c.(931-936)ATGGGG>ATTTGG	p.311_312MG>IW	SLC36A4_uc001pdm.2_Missense_Mutation_p.176_177MG>IW	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	311_312	Helical; (Potential).				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTAACAATCCCCATGCCAATAT	0.347													13	436					0	0	6.4e-05	0	0
CCDC67	159989	broad.mit.edu	37	11	93103239	93103239	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:93103239G>A	uc001pdq.2	+	6	533	c.433G>A	c.(433-435)GAA>AAA	p.E145K	CCDC67_uc001pdo.1_Missense_Mutation_p.E145K|CCDC67_uc001pdp.2_Missense_Mutation_p.E145K	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	145	Potential.									ovary(1)	1		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TTTTTAAAAGGAATTTAGAGC	0.299													14	8					0	0	0.000308642	0	0
KDM4D	55693	broad.mit.edu	37	11	94731342	94731342	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:94731342G>A	uc001pfe.2	+	3	1638	c.806G>A	c.(805-807)GGA>GAA	p.G269E		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	269	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						CAGGAGGCTGGAGAGTTCATG	0.537													34	74					0	0	0.000692331	0	0
OR8D1	283159	broad.mit.edu	37	11	124180013	124180013	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:124180013G>A	uc010sag.1	-	1	650	c.650C>T	c.(649-651)TCC>TTC	p.S217F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	217	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GAAGGCATAGGAGACAGCAAC	0.512													10	20					0	0	0.000673444	0	0
SPATA19	219938	broad.mit.edu	37	11	133714222	133714222	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr11:133714222T>G	uc001qgv.1	-	4	329	c.278A>C	c.(277-279)CAC>CCC	p.H93P		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19 precursor	93					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane					0	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CTTAGAGAGGTGGTGCTTCAC	0.557													6	56					0	0	0.00116845	0	0
DBX2	440097	broad.mit.edu	37	12	45410273	45410273	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:45410273G>A	uc001rok.1	-	4	988	c.816C>T	c.(814-816)TTC>TTT	p.F272F		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	272						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		ATGGAGAAGGGAAACCCAGAG	0.483													29	56					0	0	0.00106085	0	0
LRP1	4035	broad.mit.edu	37	12	57573125	57573125	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:57573125C>T	uc001snd.2	+	29	5218	c.4752C>T	c.(4750-4752)TTC>TTT	p.F1584F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	1584	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTAAGAAGTTCCTGCTGTACG	0.557													5	19					0	0	0.00116845	0	0
NAV3	89795	broad.mit.edu	37	12	78443775	78443775	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:78443775G>A	uc001syp.2	+	10	2199	c.2026G>A	c.(2026-2028)GAA>AAA	p.E676K	NAV3_uc001syo.2_Missense_Mutation_p.E676K|NAV3_uc010sub.1_Missense_Mutation_p.E176K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	676						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TTTCCTAGGTGAAGACCCTGA	0.338										HNSCC(70;0.22)			9	22					0	0	0.000673444	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373699	86373699	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:86373699G>A	uc001tai.3	-	8	2055	c.805C>T	c.(805-807)CTC>TTC	p.L269F	MGAT4C_uc001tal.3_Missense_Mutation_p.L269F|MGAT4C_uc001taj.3_Missense_Mutation_p.L269F|MGAT4C_uc001tak.3_Missense_Mutation_p.L269F|MGAT4C_uc010sum.1_Missense_Mutation_p.L293F|MGAT4C_uc001tah.3_Missense_Mutation_p.L269F	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	269	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						AAACGTGGGAGATCATGAGAA	0.388													18	34					0	0	0.000958276	0	0
KERA	11081	broad.mit.edu	37	12	91449722	91449722	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:91449722C>T	uc001tbl.2	-	2	956	c.337G>A	c.(337-339)GAA>AAA	p.E113K		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan precursor	113	LRR 2.				response to stimulus|visual perception	proteinaceous extracellular matrix				skin(1)	1						GCTCCTTTTTCAATTCCGTAG	0.393													33	63					0	0	0.00058488	0	0
STAB2	55576	broad.mit.edu	37	12	104054484	104054484	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:104054484C>T	uc001tjw.2	+	17	1998	c.1812C>T	c.(1810-1812)TCC>TCT	p.S604S		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	604	Extracellular (Potential).|FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CTCTCATCTCCACCCCTCACA	0.488													33	60					0	0	0.000814825	0	0
NCOR2	9612	broad.mit.edu	37	12	124831179	124831179	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:124831179G>A	uc010tba.1	-	31	4431	c.4314C>T	c.(4312-4314)CGC>CGT	p.R1438R	NCOR2_uc010tay.1_Silent_p.R1437R|NCOR2_uc010taz.1_Silent_p.R1421R|NCOR2_uc010tbb.1_Silent_p.R1430R|NCOR2_uc010tbc.1_Silent_p.R1420R|NCOR2_uc001ugj.1_Silent_p.R1438R	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1438					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCAGCTCCTCGCGCGGGATCT	0.726													6	15					0	0	0.00116845	0	0
GOLGA3	2802	broad.mit.edu	37	12	133384717	133384717	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr12:133384717T>C	uc001ukz.1	-	5	1497	c.938A>G	c.(937-939)AAT>AGT	p.N313S	GOLGA3_uc001ula.1_Missense_Mutation_p.N313S|GOLGA3_uc001ulb.2_Missense_Mutation_p.N313S	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	313					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCGCTGTCATTTCCATCCAC	0.602													20	45					0	0	0.00121646	0	0
RNF17	56163	broad.mit.edu	37	13	25378560	25378560	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:25378560T>G	uc001upr.2	+	15	2125	c.2084T>G	c.(2083-2085)CTT>CGT	p.L695R	RNF17_uc010tdd.1_Missense_Mutation_p.L554R|RNF17_uc010aab.2_Intron|RNF17_uc010tde.1_Missense_Mutation_p.L695R|RNF17_uc001ups.2_Missense_Mutation_p.L634R	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	695					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GATTTCTATCTTCAGTTGGTA	0.279													3	28					0	0	6.4e-05	0	0
NUDT15	55270	broad.mit.edu	37	13	48611944	48611944	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:48611944C>T	uc001vbw.1	+	1	242	c.62C>T	c.(61-63)ACC>ATC	p.T21I	SUCLA2_uc010tgd.1_5'UTR|NUDT15_uc001vbv.2_Missense_Mutation_p.T21I	NM_018283	NP_060753	Q9NV35	NUD15_HUMAN	nudix-type motif 15	21	Nudix hydrolase.						hydrolase activity|metal ion binding				0		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		GTCGTGGTGACCAGCTGCAAG	0.672											OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	17					0	0	0.00010058	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485276	97485276	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:97485276C>T	uc001vmw.2	+	2	1264	c.1240C>T	c.(1240-1242)CTC>TTC	p.L414F		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	414	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGCAAAAGATCTCTTCCAGCA	0.587													22	70					0	0	0.000295444	0	0
TPP2	7174	broad.mit.edu	37	13	103309445	103309446	+	Missense_Mutation	DNP	AC	TT	TT	rs140116320		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:103309445_103309446AC>TT	uc001vpi.3	+	24	3095_3096	c.2992_2993AC>TT	c.(2992-2994)ACA>TTA	p.T998L		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	998					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACCTCCACCAACAAAGACTAAG	0.312													16	110					0	0	6.4e-05	0	0
GAS6	2621	broad.mit.edu	37	13	114531609	114531609	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:114531609C>G	uc001vud.2	-	11	1372	c.1219G>C	c.(1219-1221)GGG>CGG	p.G407R	GAS6_uc001vug.2_Missense_Mutation_p.G108R|GAS6_uc001vuf.2_Missense_Mutation_p.G134R	NM_000820	NP_000811	Q14393	GAS6_HUMAN	growth arrest-specific 6 isoform 1 precursor	450	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)	4	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AACAAGTCCCCGGCCACCGCG	0.552													16	53					0	0	0.000422831	0	0
ZNF828	283489	broad.mit.edu	37	13	115089945	115089945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr13:115089945C>T	uc010ahb.2	+	3	957	c.628C>T	c.(628-630)CCT>TCT	p.P210S	ZNF828_uc001vuv.2_Missense_Mutation_p.P210S|ZNF828_uc010tko.1_Missense_Mutation_p.P210S	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	zinc finger protein 828	210	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)		ACCACAGAAACCTGCCCCTGT	0.493													47	176					0	0	0.000781405	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21792841	21792841	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr14:21792841C>T	uc001wag.2	+	14	1827	c.1827C>T	c.(1825-1827)GCC>GCT	p.A609A	RPGRIP1_uc001wah.2_Silent_p.A251A|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001waj.1_Silent_p.A74A|RPGRIP1_uc001wak.2_Silent_p.A84A|RPGRIP1_uc010aim.2_Intron|RPGRIP1_uc001wal.2_Missense_Mutation_p.P18L|RPGRIP1_uc001wam.2_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	609					response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CACTGCCAGCCCATGGAGATG	0.493													26	70					0	0	0.00106085	0	0
SPTB	6710	broad.mit.edu	37	14	65220430	65220430	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr14:65220430C>T	uc001xhr.2	-	32	6481	c.6427G>A	c.(6427-6429)GGG>AGG	p.G2143R	SPTB_uc001xhs.2_Missense_Mutation_p.G2143R|SPTB_uc010aqi.2_Missense_Mutation_p.G804R	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	Error:Variant_position_missing_in_P11277_after_alignment					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCTCATCCCCAGTGGATTTC	0.647													23	45					0	0	0.000720815	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633654	70633654	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr14:70633654C>T	uc001xly.2	-	2	2240	c.1486G>A	c.(1486-1488)GAG>AAG	p.E496K	SLC8A3_uc001xlw.2_Missense_Mutation_p.E496K|SLC8A3_uc001xlx.2_Missense_Mutation_p.E496K|SLC8A3_uc001xlz.2_Missense_Mutation_p.E496K|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	496	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGCATCCCCTCCTCTGGCTGC	0.517													23	55					0	0	0.000295444	0	0
BDKRB2	624	broad.mit.edu	37	14	96707538	96707538	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr14:96707538C>T	uc010avm.1	+	3	1069	c.873C>T	c.(871-873)TTC>TTT	p.F291F	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.F264F|BDKRB2_uc001yfg.2_Silent_p.F291F	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	291	Helical; Name=6; (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCAGCACCTTCCTGGATACGC	0.562													10	27					0	0	0.000442599	0	0
KIAA1370	56204	broad.mit.edu	37	15	52901928	52901928	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr15:52901928G>A	uc002acg.3	-	6	1336	c.1183C>T	c.(1183-1185)CCA>TCA	p.P395S	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.P307S|KIAA1370_uc010ugf.1_Missense_Mutation_p.P402S	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	395											0				all cancers(107;0.0803)		GTATTAAATGGACGTCCAGAA	0.388													21	64					0	0	0.000375601	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr15:66729162C>T	uc010bhq.2	+	3	845	c.370C>T	c.(370-372)CCG>TCG	p.P124S	MAP2K1_uc010ujp.1_Missense_Mutation_p.P102S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	124	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						GTGCAACTCTCCGTACATCGT	0.507									Cardiofaciocutaneous_syndrome				6	39					0	0	0.00116845	0	0
RHBDL1	9028	broad.mit.edu	37	16	726311	726311	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:726311C>T	uc002cis.1	+	1	237	c.210C>T	c.(208-210)GCC>GCT	p.A70A	RHBDL1_uc002cir.1_Intron|RHBDL1_uc010uun.1_Intron	NM_003961	NP_003952	O75783	RHBL1_HUMAN	rhomboid protease 1	70					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.0218)				GCACTCAGGCCTTGGCTGGCG	0.682													5	7					0	0	0.000602214	0	0
BTBD12	84464	broad.mit.edu	37	16	3641157	3641157	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:3641157C>T	uc002cvp.2	-	12	3109	c.2482G>A	c.(2482-2484)GAG>AAG	p.E828K		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	828	Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TCCGCTTCCTCCTCTTCATCT	0.458								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				63	98					0	0	0.000781405	0	0
CORO7	79585	broad.mit.edu	37	16	4408077	4408077	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:4408077G>A	uc002cwh.3	-	25	2605	c.2485C>T	c.(2485-2487)CCA>TCA	p.P829S	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.P829S|CORO7_uc002cwg.3_Missense_Mutation_p.P609S|CORO7_uc010uxh.1_Missense_Mutation_p.P811S|CORO7_uc010uxi.1_Missense_Mutation_p.P744S|CORO7_uc002cwi.1_3'UTR	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	829						cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0						GCCGTGTCTGGGAACACGTCA	0.612													12	35					0	0	0.000151284	0	0
DNAH3	55567	broad.mit.edu	37	16	20996572	20996572	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:20996572C>T	uc010vbe.1	-	48	7492	c.7492G>A	c.(7492-7494)GAT>AAT	p.D2498N	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2498	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AATGATTCATCCTTGATCTGG	0.517													16	46					0	0	0.000566183	0	0
UQCRC2	7385	broad.mit.edu	37	16	21994469	21994469	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:21994469A>G	uc002djx.2	+	14	1475	c.1339A>G	c.(1339-1341)ACA>GCA	p.T447A	UQCRC2_uc002djy.2_Missense_Mutation_p.I395M|UQCRC2_uc010bxa.2_RNA	NM_003366	NP_003357	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	447					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			large_intestine(2)	2				GBM - Glioblastoma multiforme(48;0.0264)		TTTGGGACATACACCTTTTGT	0.393													3	56					0	0	6.4e-05	0	0
USP31	57478	broad.mit.edu	37	16	23085100	23085100	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:23085100G>A	uc002dll.2	-	14	2278	c.2278C>T	c.(2278-2280)CTC>TTC	p.L760F	USP31_uc002dlk.2_5'Flank|USP31_uc010vca.1_Missense_Mutation_p.L63F|USP31_uc010bxm.2_Missense_Mutation_p.L48F	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	760					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)		TGGTAGAAGAGGATGTATGCT	0.542													12	32					0	0	0.00010058	0	0
ZNF720	124411	broad.mit.edu	37	16	31734610	31734610	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:31734610C>T	uc002ecn.3	+	3	366	c.162C>T	c.(160-162)ACC>ACT	p.T54T	ZNF720_uc010vfs.1_5'UTR|ZNF720_uc002eco.2_Intron|ZNF720_uc002ecp.1_Intron|ZNF720_uc002ecq.2_Silent_p.T56T	NM_001130913	NP_001124385	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	54	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0						ACCTGATCACCTTTTTGGAGC	0.478													3	11					0	0	6.4e-05	0	0
HYDIN	54768	broad.mit.edu	37	16	70841912	70841912	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:70841912G>A	uc002ezr.2	-	86	15062	c.14934C>T	c.(14932-14934)GGC>GGT	p.G4978G	HYDIN_uc010cfy.2_RNA	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	hydrocephalus inducing isoform a	4979										ovary(1)|skin(1)	2		Ovarian(137;0.0654)				TGCCTCCCTGGCCTCCTGGGG	0.542													22	40					0	0	0.000175454	0	0
CHST4	10164	broad.mit.edu	37	16	71570920	71570920	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr16:71570920G>A	uc002fan.2	+	2	521	c.340G>A	c.(340-342)GAA>AAA	p.E114K	CHST4_uc002fao.2_Missense_Mutation_p.E114K	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	114	Lumenal (Potential).				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity				0						TGCCTACATGGAACCTGGTCC	0.567													22	33					0	0	0.000878237	0	0
CLEC10A	10462	broad.mit.edu	37	17	6979192	6979192	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:6979192C>T	uc002gek.2	-	7	836	c.533G>A	c.(532-534)GGG>GAG	p.G178E	CLEC10A_uc002gej.2_Missense_Mutation_p.G154E|CLEC10A_uc002gel.2_Missense_Mutation_p.G151E|CLEC10A_uc010clv.1_Missense_Mutation_p.G151E	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	C-type lectin, superfamily member 14 isoform 1	178	Extracellular (Potential).				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding				0						GCAGCAGGTCCCTTCAGTGGA	0.592													17	32					0	0	0.00074312	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577540	+	Missense_Mutation	DNP	GG	AA	AA	rs121912651		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:7577539_7577540GG>AA	uc002gim.2	-	7	935_936	c.741_742CC>TT	c.(739-744)AACCGG>AATTGG	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; 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.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.N247N(10)|p.0?(7)|p.N247K(2)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247I(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCGC	0.574	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	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)			14	45					0	0	6.4e-05	0	0
Unknown	0	broad.mit.edu	37	17	34233603	34233603	+	RNA	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:34233603G>A	uc010ctx.1	-	1		c.3351C>T								Homo sapiens cDNA FLJ43944 fis, clone TESTI4014392.																		CTACTGTATTGGAGAGGGGTT	0.532													4	15					0	0	0.00024832	0	0
GPR179	440435	broad.mit.edu	37	17	36482717	36482717	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:36482717C>T	uc002hpz.2	-	11	6756	c.6735G>A	c.(6733-6735)GAG>GAA	p.E2245E		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	2245	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCCAGTTTCCTCCCCAGGAC	0.493													21	58					0	0	0.00047179	0	0
ABCC3	8714	broad.mit.edu	37	17	48750479	48750479	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:48750479G>A	uc002isl.2	+	18	2469	c.2389G>A	c.(2389-2391)GAA>AAA	p.E797K		NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	797	ABC transporter 1.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CATCGGGCCAGAAGGCGTGCT	0.577													17	37					0	0	0.00121646	0	0
HSF5	124535	broad.mit.edu	37	17	56540534	56540534	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:56540534G>A	uc002iwi.1	-	4	1275	c.1151C>T	c.(1150-1152)TCC>TTC	p.S384F		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	384						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTAGGGGAGGAATGCAACTC	0.423													42	58					0	0	0.000781405	0	0
TEX2	55852	broad.mit.edu	37	17	62226432	62226432	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:62226432T>G	uc002jec.2	-	12	3454	c.3281A>C	c.(3280-3282)AAC>ACC	p.N1094T	TEX2_uc002jed.2_Missense_Mutation_p.N1101T|TEX2_uc002jee.2_Missense_Mutation_p.N1094T	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	testis expressed sequence 2	1094					signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ATCATCCATGTTTGGCATGAC	0.453													20	18					0	0	0.000295444	0	0
Unknown	0	broad.mit.edu	37	17	76497216	76497216	+	RNA	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr17:76497216G>A	uc002jvt.1	+	2		c.2675G>A								Homo sapiens cDNA FLJ45552 fis, clone BRTHA2038279.																		AGAATCATGCGGAAGGGACCC	0.428													14	21					0	0	0.000151284	0	0
DSG1	1828	broad.mit.edu	37	18	28906914	28906914	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr18:28906914C>T	uc002kwp.2	+	3	374	c.162C>T	c.(160-162)TTC>TTT	p.F54F		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	54	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGATCAAGTTCGCAGCAGCCT	0.393													33	33					0	0	0.00058488	0	0
SMAD7	4092	broad.mit.edu	37	18	46468900	46468900	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr18:46468900G>A	uc002ldg.2	-	3	980	c.693C>T	c.(691-693)TCC>TCT	p.S231S	SMAD7_uc002ldf.2_Silent_p.S43S|SMAD7_uc010xde.1_Silent_p.S16S	NM_005904	NP_005895	O15105	SMAD7_HUMAN	SMAD family member 7	231					adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding				0	Colorectal(1;0.0518)					TTTCAGCGGAGGAAGGCACAG	0.438													34	43					0	0	0.000491102	0	0
Unknown	0	broad.mit.edu	37	18	54814964	54814964	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr18:54814964C>T	uc002lgm.2	+	1	629	c.421C>T	c.(421-423)CAT>TAT	p.H141Y						RecName: Full=Protein FAM44C;																		ACAAATAATTCATGAATTCCT	0.512													7	8					0	0	8.12818e-05	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434818	1434818	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:1434818C>T	uc002lsn.2	+	12	1320	c.1131C>T	c.(1129-1131)TCC>TCT	p.S377S	DAZAP1_uc002lsm.2_3'UTR|DAZAP1_uc002lso.2_Silent_p.S376S|DAZAP1_uc002lsl.1_Silent_p.S376S	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1 isoform b	377	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)	1		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GGGGTCCCTCCGTGCCAGGGT	0.577													7	12					0	0	8.12818e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9087881	9087881	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:9087881C>T	uc002mkp.2	-	1	4138	c.3934G>A	c.(3934-3936)GAG>AAG	p.E1312K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1312	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						GTGTTAGTCTCTCCAGGAGCT	0.512													11	41					0	0	0.000978159	0	0
ZNF625	90589	broad.mit.edu	37	19	12257028	12257028	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:12257028C>T	uc002mth.2	-	4	355	c.5G>A	c.(4-6)GGA>GAA	p.G2E	ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Missense_Mutation_p.G36E	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	zinc finger protein 625	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GAGTCTCTCTCCCATAAGACC	0.368													7	42					0	0	0.000274275	0	0
CACNA1A	773	broad.mit.edu	37	19	13397387	13397387	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:13397387C>T	uc010dze.2	-	20	3722	c.3486G>A	c.(3484-3486)AGG>AGA	p.R1162R	CACNA1A_uc010dzc.2_Silent_p.R687R|CACNA1A_uc002mwy.3_Silent_p.R1161R|CACNA1A_uc010xne.1_Silent_p.R690R	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1162	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGTCGGGTTTCCTGGCAGTCT	0.602													16	20					0	0	0.000566183	0	0
TMEM59L	25789	broad.mit.edu	37	19	18727834	18727834	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:18727834G>A	uc002njy.3	+	5	673	c.586G>A	c.(586-588)GGC>AGC	p.G196S	TMEM59L_uc010ebu.1_Missense_Mutation_p.G196S	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	brain-specific membrane-anchored protein	196						Golgi membrane|integral to membrane|membrane fraction				ovary(2)|skin(2)	4						GGAGAGCCTCGGCTTCCAGGG	0.647													18	99					0	0	0.00121646	0	0
ZNF208	7757	broad.mit.edu	37	19	22155631	22155631	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:22155631G>A	uc002nqp.2	-	5	2054	c.1905C>T	c.(1903-1905)GTC>GTT	p.V635V	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTTAGTAAGGACTGAGAATG	0.378													21	41					0	0	0.000375601	0	0
UPK1A	11045	broad.mit.edu	37	19	36166795	36166795	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:36166795C>T	uc002oaw.2	+	5	522	c.522C>T	c.(520-522)GCC>GCT	p.A174A	UPK1A_uc010eeh.2_Silent_p.A174A|uc002oax.1_5'Flank	NM_007000	NP_008931	O00322	UPK1A_HUMAN	uroplakin 1A	174	Extracellular (Potential).				epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity				0	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACGTCAGCCTTCCGGGCGG	0.597													11	33					0	0	0.00010058	0	0
PSG3	5671	broad.mit.edu	37	19	43243130	43243130	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:43243130G>A	uc002oue.2	-	2	308	c.176C>T	c.(175-177)CCC>CTC	p.P59L	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.P81L	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	59	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				AAGATTCTGGGGCAAATTGTG	0.443													65	154					0	0	0.000781405	0	0
ZNF225	7768	broad.mit.edu	37	19	44635878	44635878	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:44635878C>T	uc002oyj.1	+	5	1354	c.1111C>T	c.(1111-1113)CCA>TCA	p.P371S	ZNF225_uc010eje.1_Missense_Mutation_p.P288S|ZNF225_uc010ejf.1_Missense_Mutation_p.P371S	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AGGGGAGAAGCCATATAATTG	0.428													30	45					0	0	0.00106085	0	0
ZNF285	26974	broad.mit.edu	37	19	44892134	44892134	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:44892134G>A	uc002ozd.3	-	4	360	c.273C>T	c.(271-273)ATC>ATT	p.I91I	ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.I98I	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(2)	4						GAAGGTTCACGATATAATCCT	0.418													18	56					0	0	0.00074312	0	0
LMTK3	114783	broad.mit.edu	37	19	49000720	49000720	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:49000720C>A	uc002pjk.2	-	12	3693	c.3693G>T	c.(3691-3693)AGG>AGT	p.R1231S		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGGGGCCCTTCCTCTCGGGCT	0.701													10	29					2.68362e-12	3.17242e-11	0.00010058	1	0
TBC1D17	79735	broad.mit.edu	37	19	50385510	50385511	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:50385510_50385511GG>AA	uc002pqo.2	+	7	803_804	c.651_652GG>AA	c.(649-654)CAGGAT>CAAAAT	p.D218N	TBC1D17_uc010enn.1_RNA|TBC1D17_uc010ybg.1_Missense_Mutation_p.D185N|TBC1D17_uc002pqp.2_5'UTR|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_5'UTR|TBC1D17_uc002pqs.2_RNA	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	218						intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCTTCCTCCAGGATCCCTACTC	0.683													8	56					0	0	6.4e-05	0	0
NLRP12	91662	broad.mit.edu	37	19	54318189	54318189	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:54318189C>T	uc002qch.3	-	2	563	c.343G>A	c.(343-345)GAA>AAA	p.E115K	NLRP12_uc002qci.3_Missense_Mutation_p.E115K|NLRP12_uc002qcj.3_Missense_Mutation_p.E115K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.E115K	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	115					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGAGAGACTTCCAGAAGGCAT	0.517													48	68					0	0	0.000781405	0	0
LILRA5	353514	broad.mit.edu	37	19	54818745	54818745	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:54818745G>A	uc002qfe.2	-	7	973	c.853C>T	c.(853-855)CAG>TAG	p.Q285*	LILRA5_uc002qff.2_Nonsense_Mutation_p.Q273*	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	285	Helical; (Potential).				innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCCAATCCTGAAATATCAGA	0.532													30	51					0	0	0.000279167	0	0
SUV420H2	84787	broad.mit.edu	37	19	55854219	55854219	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr19:55854219G>A	uc002qkj.3	+	4	634	c.386G>A	c.(385-387)TGG>TAG	p.W129*	SUV420H2_uc010esx.1_Nonsense_Mutation_p.W129*|SUV420H2_uc002qkk.1_Nonsense_Mutation_p.W129*|SUV420H2_uc002qkl.2_Nonsense_Mutation_p.W14*	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2	129	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding				0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACTCGTGCTTGGTAAGAGGGC	0.592													9	20					0	0	0.000442599	0	0
APOB	338	broad.mit.edu	37	2	21236264	21236264	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:21236264G>A	uc002red.2	-	25	4112	c.3984C>T	c.(3982-3984)TTC>TTT	p.F1328F		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1328					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGCAGATGGAATCCCACAG	0.468													137	274					0	0	0.000781405	0	0
XDH	7498	broad.mit.edu	37	2	31600037	31600037	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:31600037C>T	uc002rnv.1	-	14	1388	c.1309G>A	c.(1309-1311)GGC>AGC	p.G437S		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	437					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACTCTCATGCCACTGGTTACC	0.512													9	66					0	0	0.000442599	0	0
C2orf73	129852	broad.mit.edu	37	2	54570875	54570875	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:54570875G>C	uc002rxt.1	+	3	295	c.253G>C	c.(253-255)GGT>CGT	p.G85R	C2orf73_uc010yor.1_Missense_Mutation_p.G27R|C2orf73_uc002rxs.1_5'UTR|C2orf73_uc010yos.1_RNA	NM_001100396	NP_001093866	Q8N5S3	CB073_HUMAN	hypothetical protein LOC129852	85											0						GTGGTCACATGGTAAAGCACT	0.423													3	54					0	0	0.000602214	0	0
MTIF2	4528	broad.mit.edu	37	2	55481309	55481309	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:55481309G>A	uc002ryn.2	-	8	1269	c.532C>T	c.(532-534)CCA>TCA	p.P178S	MTIF2_uc010yox.1_Intron|MTIF2_uc002ryo.2_Missense_Mutation_p.P178S	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	178					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						GGGGACCTTGGGGTTAATAAA	0.403													9	43					0	0	0.00010058	0	0
OTX1	5013	broad.mit.edu	37	2	63282748	63282748	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:63282748C>T	uc002scd.2	+	5	610	c.362C>T	c.(361-363)TCC>TTC	p.S121F	OTX1_uc010ypt.1_Missense_Mutation_p.S55F	NM_014562	NP_055377	P32242	OTX1_HUMAN	orthodenticle homeobox 1	121						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			pancreas(2)	2	Lung NSC(7;0.121)|all_lung(7;0.211)					AGCTCGGGCTCCGAAAGCAGT	0.667													5	25					0	0	0.00116845	0	0
PDCL3	79031	broad.mit.edu	37	2	101185457	101185457	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:101185457G>A	uc002tao.2	+	3	310	c.198G>A	c.(196-198)GAG>GAA	p.E66E		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	66					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding				0						TTAATGAGGAGGATGAACGTG	0.338													7	58					0	0	8.12818e-05	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924152	105924152	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:105924152G>A	uc002tcq.2	-	2	691	c.607C>T	c.(607-609)CCC>TCC	p.P203S	TGFBRAP1_uc002tcr.3_Missense_Mutation_p.P203S	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor	203	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|skin(1)	2						CTGCAGTAGGGAAACAGGTCC	0.607													8	112					0	0	0.000157383	0	0
NPHP1	4867	broad.mit.edu	37	2	110919263	110919263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:110919263G>A	uc002tfn.3	-	10	1130	c.1036C>T	c.(1036-1038)CGA>TGA	p.R346*	NPHP1_uc002tfm.3_Nonsense_Mutation_p.R291*|NPHP1_uc002tfl.3_Nonsense_Mutation_p.R347*|NPHP1_uc002tfo.3_Nonsense_Mutation_p.R228*|NPHP1_uc010ywx.1_Nonsense_Mutation_p.R290*|NPHP1_uc010fjv.1_Nonsense_Mutation_p.R290*	NM_207181	NP_997064	O15259	NPHP1_HUMAN	nephrocystin 1 isoform 2	346					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			ovary(2)	2						TAATTTGCTCGAAATTGATTC	0.353													12	32					0	0	0.000219431	0	0
TMEM177	80775	broad.mit.edu	37	2	120438625	120438625	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:120438625C>T	uc010flg.1	+	2	669	c.196C>T	c.(196-198)CAA>TAA	p.Q66*	TMEM177_uc002tme.2_Intron|TMEM177_uc002tmc.1_Nonsense_Mutation_p.Q66*|TMEM177_uc002tmd.2_Nonsense_Mutation_p.Q66*|TMEM177_uc010flh.2_Nonsense_Mutation_p.Q66*	NM_001105198	NP_001098668	Q53S58	TM177_HUMAN	transmembrane protein 177	66						integral to membrane				ovary(1)	1	Colorectal(110;0.196)					GAGCCTCTTCCAAGAGGTGCT	0.592													49	88					0	0	0.000781405	0	0
NEB	4703	broad.mit.edu	37	2	152466398	152466398	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:152466398G>A	uc010fnx.2	-	77	11717	c.11526C>T	c.(11524-11526)TAC>TAT	p.Y3842Y		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3842	Nebulin 105.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTCATGCAGGTAATTGCGAT	0.423													10	115					0	0	0.000442599	0	0
SCN9A	6335	broad.mit.edu	37	2	167138295	167138295	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:167138295C>T	uc010fpl.2	-	13	2306	c.1965G>A	c.(1963-1965)AAG>AAA	p.K655K	uc002udp.2_Intron|SCN9A_uc002udr.1_Silent_p.K537K|SCN9A_uc002uds.1_Silent_p.K537K|SCN9A_uc002udt.1_Silent_p.K526K	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	666			K -> R (in GEFS+7; also found in a patient with severe myoclonic epilepsy in infancy).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACGCCTTTTCTTGTGTATTT	0.343													5	86					0	0	0.00116845	0	0
XIRP2	129446	broad.mit.edu	37	2	168103609	168103609	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:168103609G>A	uc002udx.2	+	8	5725	c.5707G>A	c.(5707-5709)GAA>AAA	p.E1903K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E1728K|XIRP2_uc010fpq.2_Missense_Mutation_p.E1681K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1728					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TGAATGCCTTGAAAAAGCTAC	0.378													19	37					0	0	0.000175454	0	0
B3GALT1	8708	broad.mit.edu	37	2	168726189	168726189	+	Missense_Mutation	SNP	C	T	T	rs144099662	byFrequency	TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:168726189C>T	uc002udz.1	+	2	991	c.640C>T	c.(640-642)CGG>TGG	p.R214W		NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta	214	Lumenal (Potential).				lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4						AGGACCGATTCGGGATGTCCG	0.438													14	43					0	0	0.000308642	0	0
LRP2	4036	broad.mit.edu	37	2	170034386	170034386	+	Silent	SNP	A	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:170034386A>G	uc002ues.2	-	53	10533	c.10320T>C	c.(10318-10320)AAT>AAC	p.N3440N		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3440	LDL-receptor class B 34.|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)	GTGTCTGTCTATTTGATCCAT	0.423													19	204					0	0	0.000295444	0	0
CIR1	9541	broad.mit.edu	37	2	175245530	175245530	+	Splice_Site	SNP	A	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:175245530A>G	uc002uim.2	-	4	345	c.252_splice	c.e4+1	p.E84_splice	CIR1_uc002uin.2_Splice_Site|CIR1_uc002uio.2_Intron|CIR1_uc002uip.2_Intron	NM_004882	NP_004873	Q86X95	CIR1_HUMAN	CBF1 interacting corepressor						mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			large_intestine(1)	1						ATAGTACTTTACCTCTTTGTT	0.244													14	38					0	0	0.00074312	0	0
TTN	7273	broad.mit.edu	37	2	179611552	179611552	+	Missense_Mutation	SNP	C	T	T	rs62179016	byFrequency	TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:179611552C>T	uc002unb.2	-	46	15799	c.15575G>A	c.(15574-15576)AGG>AAG	p.R5192K	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	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)			ATATACCTTCCTTTTGGTCAG	0.388													9	64					0	0	0.000442599	0	0
DNAH7	56171	broad.mit.edu	37	2	196642563	196642563	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:196642563G>A	uc002utj.3	-	59	11126	c.11025C>T	c.(11023-11025)TTC>TTT	p.F3675F	DNAH7_uc002uti.3_Silent_p.F158F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3675					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						CACTTGAGTCGAACTTATAGT	0.418													14	29					0	0	0.000308642	0	0
BOLL	66037	broad.mit.edu	37	2	198640397	198640397	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:198640397C>T	uc002uus.2	-	5	654	c.344G>A	c.(343-345)GGG>GAG	p.G115E	BOLL_uc002uur.2_Missense_Mutation_p.G121E|BOLL_uc002uut.2_Missense_Mutation_p.G127E|BOLL_uc010zha.1_Intron|BOLL_uc002uuu.1_Missense_Mutation_p.G121E	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	boule isoform 2	115					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			ovary(2)	2						ACGAGGGATCCCTACTTGTTG	0.234													9	97					0	0	0.00010058	0	0
ERBB4	2066	broad.mit.edu	37	2	212495195	212495195	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:212495195C>T	uc002veg.1	-	17	2169	c.2071G>A	c.(2071-2073)GAA>AAA	p.E691K	ERBB4_uc002veh.1_Missense_Mutation_p.E691K|ERBB4_uc010zji.1_Missense_Mutation_p.E681K|ERBB4_uc010zjj.1_Missense_Mutation_p.E681K|ERBB4_uc010fut.1_Missense_Mutation_p.E691K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	691	Cytoplasmic (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACCTCTGTTTCCAAGAATCTT	0.368										TSP Lung(8;0.080)			55	99					0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883076	228883076	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:228883076C>T	uc002vpq.2	-	7	2541	c.2494G>A	c.(2494-2496)GAA>AAA	p.E832K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E832K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E832K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	832						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGATATATTTCCTTGGAGGAT	0.488													11	71					0	0	0.000978159	0	0
KCNJ13	3769	broad.mit.edu	37	2	233635934	233635934	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr2:233635934T>G	uc002vto.2	-	1	182	c.139A>C	c.(139-141)ATC>CTC	p.I47L	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.3_Intron|GIGYF2_uc002vti.3_Intron|GIGYF2_uc002vtk.3_Intron|GIGYF2_uc002vth.3_Intron|GIGYF2_uc010zmk.1_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.2_Missense_Mutation_p.I47L|KCNJ13_uc002vtp.2_Missense_Mutation_p.I47L	NM_002242	NP_002233	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel J13	47	Cytoplasmic (By similarity).					voltage-gated potassium channel complex	inward rectifier potassium channel activity				0		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TCCATTAGGATTCCCCAAGCA	0.488													11	32					0	0	0.000673444	0	0
RSPO4	343637	broad.mit.edu	37	20	947950	947950	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr20:947950C>T	uc002wej.2	-	3	373	c.276G>A	c.(274-276)GGG>GGA	p.G92G	RSPO4_uc002wek.2_Silent_p.G92G	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	R-spondin family, member 4 isoform 1 precursor	92	FU.				Wnt receptor signaling pathway	extracellular region	heparin binding				0						CACAAGTGGCCCCACATTCTG	0.612													11	59					0	0	0.000978159	0	0
SIRPG	55423	broad.mit.edu	37	20	1629866	1629866	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr20:1629866C>T	uc002wfm.1	-	2	327	c.262G>A	c.(262-264)GTA>ATA	p.V88I	SIRPG_uc002wfn.1_Missense_Mutation_p.V88I|SIRPG_uc002wfo.1_Missense_Mutation_p.V88I	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	88	Extracellular (Potential).|Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			ovary(1)	1						ACTGTTGTTACCCTGGGGAAG	0.507													6	147					0	0	0.00116845	0	0
ADAM33	80332	broad.mit.edu	37	20	3655477	3655477	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr20:3655477C>T	uc002wit.2	-	5	440	c.353G>A	c.(352-354)GGG>GAG	p.G118E	ADAM33_uc002wir.1_Missense_Mutation_p.G118E|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Missense_Mutation_p.G118E|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.G130E|ADAM33_uc010zqh.1_Missense_Mutation_p.G118E	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	118	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						CCTTACTCGCCCTTGGTAGTG	0.637													5	31					0	0	0.000602214	0	0
TAF4	6874	broad.mit.edu	37	20	60574057	60574057	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr20:60574057G>A	uc002ybs.2	-	12	2895	c.2895C>T	c.(2893-2895)ATC>ATT	p.I965I		NM_003185	NP_003176	O00268	TAF4_HUMAN	TBP-associated factor 4	965					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CCCTCATCAGGATCTCCCGCT	0.557													71	196					0	0	0.000781405	0	0
MYO18B	84700	broad.mit.edu	37	22	26423026	26423026	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:26423026G>A	uc003abz.1	+	43	7336	c.7086G>A	c.(7084-7086)GGG>GGA	p.G2362G	MYO18B_uc003aca.1_Silent_p.G2243G|MYO18B_uc010guy.1_Silent_p.G2244G|MYO18B_uc010guz.1_Silent_p.G2242G|MYO18B_uc011aka.1_Silent_p.G1516G|MYO18B_uc011akb.1_Silent_p.G1875G|MYO18B_uc010gva.1_Silent_p.G345G|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2362						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						CGAGCATGGGGAGAAAACTGA	0.582													24	65					0	0	0.00127121	0	0
OSM	5008	broad.mit.edu	37	22	30662782	30662782	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:30662782C>T	uc003ahb.2	-	1	59	c.7G>A	c.(7-9)GTA>ATA	p.V3I		NM_020530	NP_065391	P13725	ONCM_HUMAN	oncostatin M precursor	3					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			skin(1)	1			Epithelial(10;0.206)			GTGAGCAGTACCCCCATGCTG	0.701													15	21					0	0	0.000308642	0	0
PPARA	5465	broad.mit.edu	37	22	46628007	46628007	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:46628007C>T	uc003bgw.1	+	8	1296	c.1030C>T	c.(1030-1032)CTA>TTA	p.L344L	PPARA_uc003bgx.1_Silent_p.L344L|PPARA_uc010hab.1_Silent_p.L344L|PPARA_uc003bhb.1_Silent_p.L344L|PPARA_uc010hac.1_Silent_p.L141L	NM_005036	NP_005027	Q07869	PPARA_HUMAN	peroxisome proliferative activated receptor,	344	Ligand-binding.|Required for heterodimerization with RXRA.				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)	TCGTGAATTCCTAAAAAGCCT	0.428													31	74					0	0	0.000279167	0	0
BRD1	23774	broad.mit.edu	37	22	50217902	50217902	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:50217902C>A	uc003biv.2	-	1	551	c.64G>T	c.(64-66)GTT>TTT	p.V22F	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.V22F|BRD1_uc011arh.1_Missense_Mutation_p.V22F|BRD1_uc003biu.3_Missense_Mutation_p.V22F	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	22					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAGTGTTTAACACTGCATGGG	0.463													40	63					9.39024e-22	1.11504e-20	0.000437636	1	0
IL17REL	400935	broad.mit.edu	37	22	50439249	50439249	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr22:50439249G>A	uc003bje.1	-	5	385	c.153C>T	c.(151-153)ACC>ACT	p.T51T		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	51										pancreas(1)	1		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCGTCTCCTGGGTGTCCAGGC	0.721													12	5					0	0	0.000151284	0	0
CNTN6	27255	broad.mit.edu	37	3	1424823	1424823	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:1424823C>T	uc003boz.2	+	18	2631	c.2364C>T	c.(2362-2364)TCC>TCT	p.S788S	CNTN6_uc011asj.1_Silent_p.S716S|CNTN6_uc003bpa.2_Silent_p.S788S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	788	Fibronectin type-III 2.				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)		GAGAAGGATCCCTGAGTACTG	0.428													23	58					0	0	0.000720815	0	0
CNTN4	152330	broad.mit.edu	37	3	2967415	2967415	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:2967415C>T	uc003bpc.2	+	12	1531	c.1310C>T	c.(1309-1311)CCT>CTT	p.P437L	CNTN4_uc003bpb.1_Missense_Mutation_p.P109L|CNTN4_uc003bpd.1_Missense_Mutation_p.P437L|CNTN4_uc003bpe.2_Missense_Mutation_p.P109L|CNTN4_uc003bpf.2_Missense_Mutation_p.P109L	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	437	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTCCAAAACCTGTTTACACC	0.358													38	92					0	0	0.000953801	0	0
NR1D2	9975	broad.mit.edu	37	3	23996194	23996194	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:23996194C>T	uc003ccs.2	+	2	502	c.183C>T	c.(181-183)GCC>GCT	p.A61A	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_5'UTR	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	61					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						GTGATCTCGCCAATATTGAAG	0.403													17	50					0	0	0.000566183	0	0
EOMES	8320	broad.mit.edu	37	3	27760930	27760930	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:27760930G>A	uc003cdx.2	-	3	1079	c.1079C>T	c.(1078-1080)TCC>TTC	p.S360F	EOMES_uc003cdy.3_Missense_Mutation_p.S360F|EOMES_uc010hfn.2_Missense_Mutation_p.S360F|EOMES_uc011axc.1_Missense_Mutation_p.S65F	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	360	T-box.				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4						CATCCAGTGGGAACCAGTATT	0.413													33	69					0	0	0.000814825	0	0
C3orf71	646450	broad.mit.edu	37	3	48956243	48956243	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:48956243C>T	uc010hkk.1	-	1	576	c.340G>A	c.(340-342)GAT>AAT	p.D114N	ARIH2_uc003cvb.2_5'Flank|ARIH2_uc003cvc.2_5'Flank	NM_001123040	NP_001116512	Q8N7S6	CC071_HUMAN	hypothetical protein LOC646450	114						integral to membrane					0						CGACCCCGATCCGGAAGTGAC	0.682													9	15					0	0	0.000442599	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119120970	119120970	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:119120970G>A	uc003ecj.3	+	10	1903	c.1371G>A	c.(1369-1371)TCG>TCA	p.S457S		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Cdc42 GTPase-activating protein	457					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			ovary(2)	2						TCTACACTTCGAACGACAGCC	0.592													24	27					0	0	0.00127121	0	0
SI	6476	broad.mit.edu	37	3	164786967	164786967	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:164786967C>T	uc003fei.2	-	4	334	c.272G>A	c.(271-273)AGA>AAA	p.R91K		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	91	Lumenal.|P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCAGCAGCCTCTCTGTGCACA	0.358										HNSCC(35;0.089)			4	22					0	0	0.00116845	0	0
MECOM	2122	broad.mit.edu	37	3	168825738	168825738	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:168825738G>A	uc003ffi.3	-	9	2285	c.2016C>T	c.(2014-2016)TTC>TTT	p.F672F	MECOM_uc010hwk.1_Intron|MECOM_uc003ffj.3_Silent_p.F737F|MECOM_uc011bpi.1_Intron|MECOM_uc003ffn.3_Silent_p.F672F|MECOM_uc003ffk.2_Intron|MECOM_uc003ffl.2_Intron|MECOM_uc011bpj.1_Silent_p.F860F|MECOM_uc011bpk.1_Silent_p.F662F|MECOM_uc010hwn.2_Intron	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	672					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						CAGGCAGTTGGAACTGGGAGC	0.308													11	64					0	0	0.000308642	0	0
FAM131A	131408	broad.mit.edu	37	3	184059730	184059730	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:184059730C>T	uc003fog.2	+	1	1473	c.109C>T	c.(109-111)CTC>TTC	p.L37F	FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Intron|FAM131A_uc003foe.2_Intron	NM_144635	NP_653236	Q6UXB0	F131A_HUMAN	hypothetical protein LOC131408 precursor	37						extracellular region				breast(1)	1	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCAGGTGAATCTCAGCCCCTT	0.557													32	78					0	0	0.000279167	0	0
DLG1	1739	broad.mit.edu	37	3	196786775	196786775	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:196786775G>A	uc003fxo.3	-	24	2691	c.2501C>T	c.(2500-2502)TCC>TTC	p.S834F	DLG1_uc011bub.1_Missense_Mutation_p.S730F|DLG1_uc011buc.1_Missense_Mutation_p.S718F|DLG1_uc011bud.1_Missense_Mutation_p.S517F|DLG1_uc003fxn.3_Missense_Mutation_p.S856F|DLG1_uc011bue.1_Missense_Mutation_p.S822F|DLG1_uc010ial.2_Missense_Mutation_p.S834F	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	discs, large homolog 1 isoform 1	834	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			ovary(3)	3	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATTTTCCATGGATTTGGGTTT	0.308													17	48					0	0	0.000958276	0	0
NOP14	8602	broad.mit.edu	37	4	2943972	2943972	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:2943972G>A	uc003ggj.1	-	14	2070	c.1998C>T	c.(1996-1998)CTC>CTT	p.L666L	C4orf10_uc003gge.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Silent_p.L412L|NOP14_uc003ggk.3_Silent_p.L666L|NOP14_uc003ggl.2_Silent_p.L666L	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	666					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						TCGCCCAGCGGAGGGAGAGGC	0.627													19	30					0	0	0.000175454	0	0
NCAPG	64151	broad.mit.edu	37	4	17838942	17838942	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:17838942C>G	uc003gpp.2	+	15	2446	c.2270C>G	c.(2269-2271)CCC>CGC	p.P757R	NCAPG_uc011bxj.1_Missense_Mutation_p.P266R	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	757					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		GTGTTCTTCCCCGTGTTTGCT	0.388													3	55					0	0	6.4e-05	0	0
KCTD8	386617	broad.mit.edu	37	4	44177124	44177124	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:44177124G>A	uc003gwu.2	-	2	1389	c.1105C>T	c.(1105-1107)CCC>TCC	p.P369S		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerisation domain	369						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(2)|ovary(1)	3						TTGTCCTGGGGAGTGCTTGCC	0.483										HNSCC(17;0.042)			10	69					0	0	0.000673444	0	0
CNGA1	1259	broad.mit.edu	37	4	47938833	47938833	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:47938833G>A	uc003gxt.3	-	11	1944	c.1678C>T	c.(1678-1680)CGA>TGA	p.R560*	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Nonsense_Mutation_p.R629*	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	560	cGMP (Potential).|Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						GCCGTTCTTCGATTGCCAGCT	0.453													27	88					0	0	0.000878237	0	0
PCDH18	54510	broad.mit.edu	37	4	138452867	138452867	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:138452867C>T	uc003ihe.3	-	1	763	c.376G>A	c.(376-378)GAA>AAA	p.E126K	PCDH18_uc003ihf.3_Missense_Mutation_p.E119K|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	126	Extracellular (Potential).|Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)					TCCAGCACTTCAACTTCAATA	0.433													19	49					0	0	0.000958276	0	0
ZNF827	152485	broad.mit.edu	37	4	146824143	146824144	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:146824143_146824144CC>TT	uc003ikn.2	-	2	315_316	c.267_268GG>AA	c.(265-270)GAGGTC>GAAATC	p.V90I	ZNF827_uc003ikm.2_Missense_Mutation_p.V90I|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					TCTCGCAGGACCTCACTGTCCA	0.594													16	26					0	0	6.4e-05	0	0
GLRA3	8001	broad.mit.edu	37	4	175710078	175710078	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:175710078C>T	uc003ity.1	-	2	591	c.88G>A	c.(88-90)GAA>AAA	p.E30K	GLRA3_uc003itz.1_Missense_Mutation_p.E30K	NM_006529	NP_006520	O75311	GLRA3_HUMAN	glycine receptor, alpha 3 isoform a	30					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(3)	3		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CTGTCTGTTTCCTTTGTGGCA	0.338													13	26					0	0	0.000219431	0	0
TRIML2	205860	broad.mit.edu	37	4	189012722	189012722	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr4:189012722G>A	uc003izl.2	-	7	1005	c.969C>T	c.(967-969)TTC>TTT	p.F323F	TRIML2_uc003izj.1_Silent_p.F151F|TRIML2_uc003izk.1_Silent_p.F131F|TRIML2_uc011cle.1_Silent_p.F398F	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	323	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CGCAGTCAAGGAAAACGCCAA	0.532													40	78					0	0	0.000270559	0	0
AHRR	57491	broad.mit.edu	37	5	434549	434549	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:434549C>T	uc003jav.2	+	12	1804	c.1760C>T	c.(1759-1761)ACC>ATC	p.T587I	AHRR_uc003jaw.2_Missense_Mutation_p.T565I|AHRR_uc010isy.2_Missense_Mutation_p.T415I|AHRR_uc010isz.2_Missense_Mutation_p.T565I|AHRR_uc003jax.2_Missense_Mutation_p.T328I|AHRR_uc003jay.2_Missense_Mutation_p.T425I|AHRR_uc003jaz.2_Missense_Mutation_p.T186I	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	arylhydrocarbon receptor repressor	569	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)	2			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CACCCAGCCACCTTCCCTACC	0.642													11	12					0	0	0.00010058	0	0
IRX4	50805	broad.mit.edu	37	5	1879826	1879826	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:1879826G>A	uc003jcz.2	-	4	647	c.528C>T	c.(526-528)ATC>ATT	p.I176I	IRX4_uc011cmf.1_Silent_p.I37I	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	176	Homeobox; TALE-type.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		TGGCCAGCATGATCTTCTCGC	0.642													19	49					0	0	0.00121646	0	0
DNAH5	1767	broad.mit.edu	37	5	13762983	13762983	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:13762983C>G	uc003jfd.2	-	60	10171	c.10129G>C	c.(10129-10131)GAG>CAG	p.E3377Q	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3377	Stalk (By similarity).				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)					TCTATCACCTCTTCATTGATT	0.368									Kartagener_syndrome				5	53					0	0	0.00116845	0	0
DNAH5	1767	broad.mit.edu	37	5	13776655	13776655	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:13776655G>A	uc003jfd.2	-	55	9308	c.9266C>T	c.(9265-9267)TCG>TTG	p.S3089L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3089	AAA 4 (By similarity).				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)					CCCCACTGGCGAGAAGCAGAG	0.478									Kartagener_syndrome				26	49					0	0	0.000720815	0	0
CDH10	1008	broad.mit.edu	37	5	24509694	24509694	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:24509694A>C	uc003jgr.1	-	7	1569	c.1237T>G	c.(1237-1239)TCT>GCT	p.S413A	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	413	Cadherin 4.|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)		CTGGAAATAGAATCTGGGTCC	0.294										HNSCC(23;0.051)			3	32					0	0	6.4e-05	0	0
RXFP3	51289	broad.mit.edu	37	5	33938001	33938001	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:33938001C>T	uc003jic.1	+	1	1513	c.1156C>T	c.(1156-1158)CCC>TCC	p.P386S		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	386	Cytoplasmic (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1						CTGCCTCAACCCCGTCCTCTA	0.622													14	71					0	0	0.000566183	0	0
C6	729	broad.mit.edu	37	5	41161815	41161815	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:41161815G>A	uc003jmk.2	-	10	1648	c.1438C>T	c.(1438-1440)CCT>TCT	p.P480S	C6_uc003jml.1_Missense_Mutation_p.P480S	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	480	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATCACAGCAGGATTTTCCTTC	0.408													10	62					0	0	0.000673444	0	0
SNCAIP	9627	broad.mit.edu	37	5	121776381	121776381	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:121776381G>A	uc003ksw.1	+	7	1560	c.1354G>A	c.(1354-1356)GAA>AAA	p.E452K	SNCAIP_uc011cwl.1_Missense_Mutation_p.E10K|SNCAIP_uc010jct.2_Missense_Mutation_p.E452K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E499K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E86K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E86K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E48K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E86K|SNCAIP_uc003kta.1_Missense_Mutation_p.E84K|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.E146K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E392K|uc003ktb.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	synuclein alpha interacting protein	452					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)		CTCGTTGGATGAAGTAGACCA	0.448													42	87					0	0	0.000781405	0	0
FBXL21	26223	broad.mit.edu	37	5	135272332	135272332	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:135272332G>A	uc010jec.1	+	1	70	c.49G>A	c.(49-51)GGA>AGA	p.G17R	FBXL21_uc003lbc.2_Intron	NM_012159	NP_036291	Q9UKT6	FXL21_HUMAN	F-box and leucine-rich repeat protein 21	17					rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			lung(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGTTGTCAGGAGCAGCGAA	0.403													40	57					0	0	0.000319135	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187978	140187978	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:140187978G>A	uc003lhi.2	+	1	1307	c.1206G>A	c.(1204-1206)AAG>AAA	p.K402K	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.K402K|PCDHA4_uc011daa.1_Silent_p.K402K	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	402	Cadherin 4.|Extracellular (Potential).				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)			CCACCTTCAAGAATTACTACT	0.607													6	120					0	0	8.12818e-05	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256848	140256848	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:140256848G>A	uc003lic.2	+	1	1918	c.1791G>A	c.(1789-1791)GTG>GTA	p.V597V	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_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.V597V	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	597	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGCGGTGGACGCTGACT	0.682													27	50					0	0	0.000878237	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568444	140568444	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:140568444C>T	uc003liw.1	+	3	1553	c.1553C>T	c.(1552-1554)TCG>TTG	p.S518L		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	518	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCTCAGGTCGCTGGACTAC	0.682													18	61					0	0	0.000175454	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740075	140740075	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:140740075G>A	uc003ljs.1	+	1	373	c.373G>A	c.(373-375)GAT>AAT	p.D125N	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_uc011dar.1_Missense_Mutation_p.D125N	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2 isoform 1	125	Extracellular (Potential).|Cadherin 1.				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)			AATTGTGCAGGATATAAATGA	0.403													15	34					0	0	0.000308642	0	0
FAM71B	153745	broad.mit.edu	37	5	156589959	156589960	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:156589959_156589960GG>TT	uc003lwn.2	-	2	1416_1417	c.1316_1317CC>AA	c.(1315-1317)CCC>CAA	p.P439Q		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	439						nucleus				ovary(4)|pancreas(1)|skin(1)	6	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTCCTACTGGGATGTCTGTC	0.52													11	433					0	0	6.4e-05	0	0
OR2V2	285659	broad.mit.edu	37	5	180582353	180582353	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr5:180582353G>A	uc011dhj.1	+	1	411	c.411G>A	c.(409-411)ATG>ATA	p.M137I		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V,	137	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATCCTCATGAATCAGAGGG	0.507													16	56					0	0	0.000422831	0	0
BTN1A1	696	broad.mit.edu	37	6	26508961	26508961	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:26508961G>A	uc003nif.3	+	7	1160	c.1140G>A	c.(1138-1140)ATG>ATA	p.M380I		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	380	B30.2/SPRY.|Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						AGAATGTGATGAAGAAAGGAT	0.557													8	91					0	0	0.000274275	0	0
GTF2H4	2968	broad.mit.edu	37	6	30880133	30880133	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:30880133C>T	uc003nsa.1	+	11	1194	c.987C>T	c.(985-987)GCC>GCT	p.A329A	GTF2H4_uc003nsb.1_Silent_p.A167A|GTF2H4_uc011dmw.1_Silent_p.A335A|VARS2_uc003nsc.1_5'Flank|VARS2_uc003nsd.2_5'Flank|VARS2_uc011dmx.1_5'Flank|VARS2_uc011dmy.1_5'Flank|VARS2_uc011dmz.1_5'Flank|VARS2_uc011dna.1_5'Flank|VARS2_uc011dnb.1_5'Flank|VARS2_uc011dnc.1_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4,	329					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3						CCCTCATTGCCCTCTTCTCTG	0.592								NER					21	50					0	0	0.000375601	0	0
TULP1	7287	broad.mit.edu	37	6	35467845	35467845	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:35467845C>T	uc003okv.3	-	14	1420	c.1408G>A	c.(1408-1410)GAT>AAT	p.D470N	TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Missense_Mutation_p.D417N	NM_003322	NP_003313	O00294	TULP1_HUMAN	tubby like protein 1	470					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			ovary(2)|central_nervous_system(1)	3						CCACTGTCATCGTTCCAGACA	0.592													32	56					0	0	0.000491102	0	0
KCNK5	8645	broad.mit.edu	37	6	39159255	39159255	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:39159255A>G	uc003oon.2	-	5	1275	c.911T>C	c.(910-912)CTC>CCC	p.L304P		NM_003740	NP_003731	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	304	Cytoplasmic (Potential).				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						CTGCTTGATGAGGTCGTTGTA	0.622													3	148					0	0	0.000602214	0	0
PKHD1	5314	broad.mit.edu	37	6	51890761	51890761	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:51890761A>G	uc003pah.1	-	32	4123	c.3847T>C	c.(3847-3849)TCA>CCA	p.S1283P	PKHD1_uc003pai.2_Missense_Mutation_p.S1283P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1283	Extracellular (Potential).|IPT/TIG 7.		S -> L.		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)					AAGCTTGGTGAAGGACCACGG	0.582													14	19					0	0	0.000308642	0	0
EFHC1	114327	broad.mit.edu	37	6	52344502	52344502	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:52344502C>T	uc003pap.3	+	9	1772	c.1557C>T	c.(1555-1557)AAC>AAT	p.N519N	EFHC1_uc011dwv.1_Silent_p.N428N|EFHC1_uc011dww.1_Silent_p.N500N	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	519	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)					TGGAGAGCAACGCTGCCCAGT	0.478													23	44					0	0	0.00047179	0	0
PGM3	5238	broad.mit.edu	37	6	83892634	83892634	+	Missense_Mutation	SNP	C	T	T	rs73749732	byFrequency	TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:83892634C>T	uc003pjv.2	-	5	561	c.521G>A	c.(520-522)CGA>CAA	p.R174Q	PGM3_uc003pjw.2_Missense_Mutation_p.R93Q|PGM3_uc011dyz.1_Missense_Mutation_p.R202Q	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	174					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CTTTCCATATCGGCCACCCGT	0.403													26	63					0	0	0.000279167	0	0
STL	7955	broad.mit.edu	37	6	125231602	125231602	+	RNA	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:125231602C>T	uc003pzq.2	-	7		c.3132G>A				NR_026876				Homo sapiens mRNA; cDNA DKFZp451I132 (from clone DKFZp451I132).												0						TTCATTAATCCTTAAGTACTT	0.259			T	ETV6	B-ALL								4	5					0	0	0.00024832	0	0
VIP	7432	broad.mit.edu	37	6	153076403	153076403	+	Splice_Site	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:153076403G>A	uc003qpe.2	+	4	403	c.231_splice	c.e4-1	p.R77_splice	VIP_uc003qpf.2_Splice_Site_p.R77_splice|VIP_uc010kjd.2_Splice_Site_p.R77_splice	NM_003381	NP_003372	P01282	VIP_HUMAN	vasoactive intestinal peptide isoform 1						body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity				0		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CCTTGTTTTAGAAATGCCAGG	0.323													24	27					0	0	0.000586117	0	0
TCP10L2	401285	broad.mit.edu	37	6	167591993	167591993	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr6:167591993C>T	uc010kkp.2	+	5	751	c.620C>T	c.(619-621)CCC>CTC	p.P207L		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	207											0						AGGCCGACTCCCGGTGCAGAA	0.522													17	76					0	0	0.000295444	0	0
GPR141	353345	broad.mit.edu	37	7	37780304	37780304	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:37780304C>T	uc003tfm.1	+	1	309	c.309C>T	c.(307-309)TTC>TTT	p.F103F	uc003tfl.2_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	103	Helical; Name=3; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3						ACCTCACGTTCCTATTCTATG	0.468													28	88					0	0	0.000720815	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44798879	44798879	+	Splice_Site	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:44798879G>A	uc003tlr.2	+	7	937	c.814_splice	c.e7-1	p.V272_splice	ZMIZ2_uc003tlq.2_Splice_Site_p.V240_splice|ZMIZ2_uc003tls.2_Splice_Site_p.V272_splice|ZMIZ2_uc003tlt.2_5'Flank|ZMIZ2_uc010kyj.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2 isoform 1						positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			ovary(2)|large_intestine(2)|breast(1)	5						CTCTTTTTCAGGTGTATCCAG	0.597													44	130					0	0	0.000781405	0	0
POM121	9883	broad.mit.edu	37	7	72409898	72409898	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:72409898C>T	uc003twk.2	+	7	1391	c.1391C>T	c.(1390-1392)TCC>TTC	p.S464F	POM121_uc003twj.2_Missense_Mutation_p.S199F|POM121_uc010lam.1_Missense_Mutation_p.S199F	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	nuclear pore membrane protein 121	464	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore					0		Lung NSC(55;0.163)				TGTCATCATTCCAGTTCTTCA	0.478													5	77					0	0	8.12818e-05	0	0
SEMA3A	10371	broad.mit.edu	37	7	83634740	83634740	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:83634740C>T	uc003uhz.2	-	11	1590	c.1275G>A	c.(1273-1275)ACG>ACA	p.T425T		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	425	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						AATTTACATCCGTTTTGATCA	0.368													25	59					0	0	0.00106085	0	0
TFR2	7036	broad.mit.edu	37	7	100218570	100218570	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:100218570G>A	uc003uvv.1	-	18	2357	c.2316C>T	c.(2314-2316)TTC>TTT	p.F772F	TFR2_uc010lhc.1_Silent_p.F313F|TFR2_uc003uvu.1_Silent_p.F601F	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	transferrin receptor 2	772	Extracellular (Potential).				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			ovary(1)|pancreas(1)	2	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCTGACGCCGGAAACGGCTCT	0.662													16	12					0	0	0.000422831	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:140453136A>T	uc003vwc.3	-	15	1860	c.1799T>A	c.(1798-1800)GTG>GAG	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	B-Raf	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(16892)|p.V600?(325)|p.V600K(176)|p.V600R(36)|p.V600M(25)|p.V600A(23)|p.V600D(21)|p.V600G(11)|p.V600_K601>E(8)|p.T599_V600insTT(3)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600L(2)|p.T599_V600insT(2)|p.V600_W604del(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600E(UACC257_SKIN)|V600D(K029AX_SKIN)|V600E(HS695T_SKIN)|V600E(COLO679_SKIN)|V600E(BT474_BREAST)|V600E(IGR39_SKIN)|V600E(A101D_SKIN)|V600E(COLO783_SKIN)|V600E(IGR37_SKIN)|V600E(A375_SKIN)|V600E(WM793_SKIN)|V600E(COLO818_SKIN)|V600E(HS294T_SKIN)|V600E(SKMEL28_SKIN)|V600E(DU4475_BREAST)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(IGR1_SKIN)|V600E(SKHEP1_LIVER)|V600E(WM983B_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(RVH421_SKIN)|V600D(WM2664_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(SKMEL24_SKIN)|V600D(WM115_SKIN)|V600E(MALME3M_SKIN)|V600E(A673_BONE)|V600E(C32_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO800_SKIN)|V600E(COLO741_SKIN)|V600E(HS939T_SKIN)|V600E(COLO205_LARGE_INTESTINE)|V600E(K029AX_SKIN)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(SH4_SKIN)|V600E(WM88_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(COLO849_SKIN)|V600E(MELHO_SKIN)|V600E(BHT101_THYROID)|V600E(G361_SKIN)|V600E(UACC62_SKIN)|V600E(BCPAP_THYROID)|V600E(8505C_THYROID)|V600E(SW1417_LARGE_INTESTINE)|V600E(COLO829_SKIN)|V600E(RKO_LARGE_INTESTINE)|V600E(A2058_SKIN)|V600E(RPMI7951_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(SKMEL5_SKIN)|V600E(ES2_OVARY)|V600E(LOXIMVI_SKIN)	61	Mis|T|O	AKAP9|KIAA1549	melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous_syndrome				54	34					0	0	0.000781405	0	0
PRSS1	5644	broad.mit.edu	37	7	142459664	142459664	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:142459664C>T	uc003wak.2	+	3	257	c.240C>T	c.(238-240)GTC>GTT	p.V80V	uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.V20V	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	80	Peptidase S1.	Calcium; via carbonyl oxygen.			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACATCGAAGTCCTGGAGGGGA	0.542									Hereditary_Pancreatitis				78	95					0	0	0.000781405	0	0
OR2F1	26211	broad.mit.edu	37	7	143657556	143657556	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:143657556C>T	uc003wds.1	+	1	537	c.493C>T	c.(493-495)CAG>TAG	p.Q165*		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					TATCACCTTTCAGCTGCCCAT	0.522													7	82					0	0	8.12818e-05	0	0
SGCZ	137868	broad.mit.edu	37	8	13959999	13959999	+	Silent	SNP	T	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:13959999T>G	uc003wwq.2	-	7	1290	c.630A>C	c.(628-630)TCA>TCC	p.S210S	SGCZ_uc010lss.2_Silent_p.S163S	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	sarcoglycan zeta	197	Extracellular (Potential).				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				ovary(2)|central_nervous_system(1)	3				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATCTGGTGGGTGATTCAAGCC	0.403													9	24					0	0	0.000274275	0	0
ESCO2	157570	broad.mit.edu	37	8	27634168	27634168	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:27634168G>A	uc003xgg.2	+	3	426	c.343G>A	c.(343-345)GAA>AAA	p.E115K	ESCO2_uc010luy.1_RNA|ESCO2_uc003xgh.2_Missense_Mutation_p.E115K	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	establishment of cohesion 1 homolog 2	115					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			central_nervous_system(1)	1		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AACTAATGATGAAGATAAATC	0.353									SC_Phocomelia_syndrome				13	25					0	0	0.00010058	0	0
C8orf86	389649	broad.mit.edu	37	8	38370031	38370031	+	Silent	SNP	G	A	A	rs138372010		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:38370031G>A	uc003xlx.1	-	3	571	c.546C>T	c.(544-546)TCC>TCT	p.S182S		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	hypothetical protein LOC389649	182											0						tcagttccccggagattctga	0													24	57					0	0	0.000878237	0	0
ANK1	286	broad.mit.edu	37	8	41571691	41571691	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:41571691G>A	uc003xok.2	-	16	1867	c.1783C>T	c.(1783-1785)CCG>TCG	p.P595S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.P595S|ANK1_uc003xoj.2_Missense_Mutation_p.P595S|ANK1_uc003xol.2_Missense_Mutation_p.P595S|ANK1_uc003xom.2_Missense_Mutation_p.P628S	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	595	ANK 17.|89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGCTGTGCGGGGAGCCGCCC	0.662													13	19					0	0	0.000308642	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587386	42587386	+	Silent	SNP	T	C	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:42587386T>C	uc003xpi.1	+	5	1064	c.936T>C	c.(934-936)ATT>ATC	p.I312I		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta	312	Helical; (Potential).				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)	1	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTCCATCATTGTTACCGTGT	0.438													5	143					0	0	0.000602214	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409663	59409663	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:59409663A>C	uc003xtm.3	-	3	471	c.408T>G	c.(406-408)CAT>CAG	p.H136Q		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	136					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AATTCAAGGCATGGCCCTGCA	0.473									Neonatal_Giant_Cell_Hepatitis				34	66					0	0	0.00058488	0	0
SDCBP	6386	broad.mit.edu	37	8	59492257	59492257	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:59492257A>G	uc003xtn.2	+	7	804	c.654A>G	c.(652-654)ATA>ATG	p.I218M	SDCBP_uc003xto.2_Missense_Mutation_p.I217M|SDCBP_uc003xtr.2_Missense_Mutation_p.I217M|SDCBP_uc003xtp.2_Missense_Mutation_p.I212M|SDCBP_uc003xtq.2_Missense_Mutation_p.I218M|SDCBP_uc003xts.2_Missense_Mutation_p.I224M|SDCBP_uc011led.1_Missense_Mutation_p.I159M	NM_005625	NP_005616	O00560	SDCB1_HUMAN	syntenin isoform 1	218	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding				0		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGGAAAAATAACATCCATAG	0.368													27	54					0	0	0.000586117	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618595	77618595	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:77618595C>T	uc003yav.2	+	2	2659	c.2272C>T	c.(2272-2274)CCG>TCG	p.P758S	ZFHX4_uc003yat.1_Missense_Mutation_p.P758S|ZFHX4_uc003yau.1_Missense_Mutation_p.P758S|ZFHX4_uc003yaw.1_Missense_Mutation_p.P758S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	758						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)			AACACCCTCTCCGTCCAAACC	0.522										HNSCC(33;0.089)			7	15					0	0	8.12818e-05	0	0
CNGB3	54714	broad.mit.edu	37	8	87645038	87645038	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:87645038A>T	uc003ydx.2	-	11	1308	c.1262T>A	c.(1261-1263)GTT>GAT	p.V421D	CNGB3_uc010maj.2_Missense_Mutation_p.V283D	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	421	Helical; Name=H5; (Potential).				signal transduction|visual perception	integral to membrane	cGMP binding			ovary(2)|pancreas(1)	3						GAGTTGAAAAACAATTTCAAA	0.353													18	26					0	0	0.00074312	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110420352	110420352	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:110420352G>T	uc003yne.2	+	18	1992	c.1888G>T	c.(1888-1890)GGA>TGA	p.G630*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	630	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACAAACCAAAGGAAAACCCAA	0.403										HNSCC(38;0.096)			18	42					1.33834e-09	1.5681e-08	0.000958276	1	0
CSMD3	114788	broad.mit.edu	37	8	113332163	113332163	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:113332163C>T	uc003ynu.2	-	46	7372	c.7213G>A	c.(7213-7215)GAA>AAA	p.E2405K	CSMD3_uc003yns.2_Missense_Mutation_p.E1607K|CSMD3_uc003ynt.2_Missense_Mutation_p.E2365K|CSMD3_uc011lhx.1_Missense_Mutation_p.E2301K|CSMD3_uc003ynw.1_Missense_Mutation_p.E116K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	2405	Extracellular (Potential).|Sushi 13.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GTCAAAATTTCAGCATTGGGC	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	63					0	0	0.000491102	0	0
TRPS1	7227	broad.mit.edu	37	8	116426948	116426948	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:116426948C>T	uc003ynz.2	-	6	3608	c.3149G>A	c.(3148-3150)GGA>GAA	p.G1050E	TRPS1_uc011lhy.1_Missense_Mutation_p.G1054E|TRPS1_uc003yny.2_Missense_Mutation_p.G1063E|TRPS1_uc010mcy.2_Missense_Mutation_p.G1050E	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	1050	Mediates interaction with RNF4 (By similarity).				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)			TGAACTATTTCCTGGATCTCC	0.443									Langer-Giedion_syndrome				14	120					0	0	0.000566183	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406278	144406278	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:144406278C>T	uc003yxz.2	-	7	870	c.851G>A	c.(850-852)CGA>CAA	p.R284Q	TOP1MT_uc011lkd.1_Missense_Mutation_p.R186Q|TOP1MT_uc011lke.1_Missense_Mutation_p.R186Q|TOP1MT_uc010mfb.2_Missense_Mutation_p.R186Q|TOP1MT_uc011lkf.1_Missense_Mutation_p.R79Q|TOP1MT_uc010mfd.1_Missense_Mutation_p.R79Q	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	284					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CCGCAGGCGTCGAGCTGTTTC	0.517													11	108					0	0	0.000151284	0	0
SCRIB	23513	broad.mit.edu	37	8	144885625	144885625	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr8:144885625G>A	uc003yzp.1	-	24	3538	c.3531C>T	c.(3529-3531)CTC>CTT	p.L1177L	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Silent_p.L1177L	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	scribble isoform b	1177	PDZ 4.|Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCACACTGCGGAGCAGCTGCA	0.711													4	8					0	0	0.00116845	0	0
ZNF618	114991	broad.mit.edu	37	9	116811400	116811400	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr9:116811400C>T	uc004bid.2	+	15	1917	c.1818C>T	c.(1816-1818)TTC>TTT	p.F606F	ZNF618_uc004bic.2_Silent_p.F513F|ZNF618_uc011lxi.1_Silent_p.F573F|ZNF618_uc011lxj.1_Silent_p.F574F|ZNF618_uc010mvb.2_Silent_p.F196F	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGTCGGAGTTCGTGATGTCGG	0.597													33	26					0	0	0.00128727	0	0
BAT2L1	84726	broad.mit.edu	37	9	134350745	134350745	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr9:134350745C>T	uc004can.3	+	15	3284	c.3229C>T	c.(3229-3231)CGT>TGT	p.R1077C	BAT2L1_uc010mzj.1_Missense_Mutation_p.R660C|BAT2L1_uc004cao.3_Missense_Mutation_p.R435C	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	1077							protein binding				0						GTTCACTTTTCGTGGTCGGCC	0.627													15	12					0	0	0.000308642	0	0
CSF2RA	1438	broad.mit.edu	37	X	1401656	1401656	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrX:1401656G>A	uc010nct.2	+	4	382	c.60G>A	c.(58-60)CTG>CTA	p.L20L	CSF2RA_uc011mhb.1_Silent_p.L20L|CSF2RA_uc004cpq.2_Silent_p.L20L|CSF2RA_uc004cpn.2_Silent_p.L20L|CSF2RA_uc004cpo.2_Silent_p.L20L|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.L20L|CSF2RA_uc010ncv.2_Silent_p.L20L|CSF2RA_uc004cpr.2_Silent_p.L20L	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	20						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)	CATTCCTCCTGATCCCAGAGA	0.537													92	173					0	0	0.000781405	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811443	5811443	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrX:5811443G>A	uc010ndh.2	-	6	2367	c.1866C>T	c.(1864-1866)CCC>CCT	p.P622P	NLGN4X_uc004crp.2_Silent_p.P642P|NLGN4X_uc004crq.2_Silent_p.P622P|NLGN4X_uc010ndi.2_Silent_p.P659P|NLGN4X_uc004crr.2_Silent_p.P622P|NLGN4X_uc010ndj.2_Silent_p.P622P	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	622	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						GGGTGCCATAGGGAAATGATG	0.488													32	12					0	0	0.000680045	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269600	30269600	+	Silent	SNP	G	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrX:30269600G>A	uc004dcc.2	+	4	1310	c.990G>A	c.(988-990)ACG>ACA	p.T330T	MAGEB1_uc004dcd.2_Silent_p.T330T|MAGEB1_uc004dce.2_Silent_p.T330T	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	330											0						CTACTGCCACGACTTTTAGAG	0.527													28	10					0	0	0.00127121	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284450	118284450	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrX:118284450C>T	uc004era.3	-	1	93	c.93G>A	c.(91-93)AGG>AGA	p.R31R		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	31										ovary(4)|skin(1)	5						CCCCTCGGTCCCTGGGGCCCA	0.617													6	23					0	0	0.000157383	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16952557	16952557	+	Silent	SNP	C	T	T			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chrY:16952557C>T	uc004ftg.2	+	6	2118	c.1866C>T	c.(1864-1866)CCC>CCT	p.P622P	NLGN4Y_uc004fte.2_Silent_p.P454P|NLGN4Y_uc011nas.1_Silent_p.P642P|NLGN4Y_uc004ftf.2_Silent_p.P315P|NLGN4Y_uc004fth.2_Silent_p.P622P	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	622	Extracellular (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						CATCATTTCCCTATGGCACCC	0.483													7	62					0	0	0.000229342	0	0
ZBTB17	7709	broad.mit.edu	37	1	16270856	16270856	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr1:16270856delA	uc001axl.3	-	9	1549	c.1310delT	c.(1309-1311)CTGfs	p.L437fs	ZBTB17_uc010obq.1_Frame_Shift_Del_p.L354fs|ZBTB17_uc010obr.1_Frame_Shift_Del_p.L437fs|ZBTB17_uc010obs.1_Frame_Shift_Del_p.L361fs|ZBTB17_uc010obt.1_Frame_Shift_Del_p.L374fs|ZBTB17_uc010obu.1_Frame_Shift_Del_p.L393fs	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	437	C2H2-type 5.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGTCTCCAGGTGGCGCAT	0.647													2	4	---	---	---	---					
DCP1A	55802	broad.mit.edu	37	3	53326674	53326675	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr3:53326674_53326675insA	uc003dgs.3	-	7	900_901	c.807_808insT	c.(805-810)CCTCAAfs	p.P269fs	DCP1A_uc003dgt.3_RNA	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	DCP1 decapping enzyme homolog A	269_270					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GTTTCTGATTGAGGGGCTCCTC	0.530													6	13	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	-	-	rs11277659		TCGA-EB-A299-01A-21D-A197-08	TCGA-EB-A299-10A-01D-A199-08									Somatic	Phase_I	Capture				Illumina GAIIx	70bd349e-3f26-4201-bc6a-5c04abff3460	d7d2b491-8dce-44f5-8fdd-19b64c1a2684	g.chr7:131241030_131241035delGGCGAC	uc003vqw.3	-	1	342_347	c.84_89delGTCGCC	c.(82-90)CCGTCGCCC>CCC	p.28_30PSP>P	PODXL_uc003vqx.3_In_Frame_Del_p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	podocalyxin-like isoform 1 precursor	28_30	Extracellular (Potential).				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				breast(2)|pancreas(1)	3	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.573													3	4	---	---	---	---					
