Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
IGHV3-49	28423	broad.mit.edu	37	14	107013371	107013371	+	RNA	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:107013371G>A	ENST00000390625.2	-	0	106																											TAGCAACAAGGAAAACCCAGC	0.483000													55	74					0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366262	7366262	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:7366262C>T	ENST00000311403.4	-	4	2378	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	ZBTB4_ENST00000380599.4_Missense_Mutation_p.G680E	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		ACTGGCACCTCCAGCAGCTCC	0.662000													39	7					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140058465	140058465	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:140058465G>A	ENST00000350902.5	+	18	2775	c.2698G>A	c.(2698-2700)Gga>Aga	p.G900R	GRIN1_ENST00000371561.3_Intron|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Intron|GRIN1_ENST00000371546.4_Intron|GRIN1_ENST00000371550.4_Intron|GRIN1_ENST00000371559.4_Intron|GRIN1_ENST00000371553.3_Intron|GRIN1_ENST00000371555.4_Intron|GRIN1_ENST00000315048.3_Intron			Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	0					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGGCAGGACTGGAGCTAGGAG	0.736000													6	11					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48220025	48220025	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:48220025C>G	ENST00000263277.3	+	2	407	c.156C>G	c.(154-156)gaC>gaG	p.D52E	EHD2_ENST00000538399.1_Intron|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	52					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CCCTGGAGGACGCAGACTTCG	0.667000													13	19					0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127901503	127901503	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:127901503C>T	ENST00000329722.7	+	3	494	c.482C>T	c.(481-483)cCa>cTa	p.P161L		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	161						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		CTTTTGCCCCCACCCAAGAAT	0.423000													35	49					0	0	1	0	0
COPS7B	64708	broad.mit.edu	37	2	232658990	232658990	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:232658990C>T	ENST00000373608.3	+	4	363	c.256C>T	c.(256-258)Cca>Tca	p.P86S	COPS7B_ENST00000409295.1_Missense_Mutation_p.P52S|COPS7B_ENST00000409091.1_5'UTR|COPS7B_ENST00000350033.3_Missense_Mutation_p.P86S|COPS7B_ENST00000410017.1_Missense_Mutation_p.P86S|COPS7B_ENST00000410024.1_Missense_Mutation_p.P86S			Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	86	PCI.				cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGAGAGCCTGCCAGAACTGAG	0.463000													17	29					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133885437	133885437	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:133885437G>A	ENST00000220616.4	+	5	649	c.609G>A	c.(607-609)atG>atA	p.M203I	TG_ENST00000377869.1_Missense_Mutation_p.M203I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	203	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGACATGATGATTTTTGATC	0.552000													11	18					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141755446	141755446	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:141755446G>A	ENST00000475668.2	+	28	3457	c.3403G>A	c.(3403-3405)Ggg>Agg	p.G1135R	MGAM_ENST00000549489.2_Missense_Mutation_p.G1135R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1135	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTATGGCTTTGGGGAAACTGA	0.537000													42	54					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41752784	41752784	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:41752784C>T	ENST00000352645.4	+	22	2910	c.2653C>T	c.(2653-2655)Ccc>Tcc	p.P885S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.P885S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	901					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTCCGCTTCCCCATGGGCGA	0.657000													42	61					0	0	1	0	0
SLC25A24	29957	broad.mit.edu	37	1	108735237	108735237	+	Missense_Mutation	SNP	A	A	G	rs144382466	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:108735237A>G	ENST00000370041.4	-	1	203	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P	SLC25A24_ENST00000565488.1_Intron	NM_213651.2	NP_998816.1	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	0					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CCGTAGAGGGAGTCCATCGAG	0.582000													105	145					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	71017109	71017109	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:71017109C>T	ENST00000354624.5	+	14	2092	c.1959C>T	c.(1957-1959)gtC>gtT	p.V653V	HKDC1_ENST00000395086.2_Silent_p.V653V	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	653					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTGTTGCAGTCGTGAATGATA	0.438000													46	66					0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189433	29189433	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:29189433G>A	ENST00000234961.2	+	3	999	c.757G>A	c.(757-759)Gac>Aac	p.D253N		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	253					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CAAGGAGAAGGACCGCAGCCT	0.642000													12	18					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10894137	10894137	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:10894137G>A	ENST00000283141.6	+	3	412	c.116G>A	c.(115-117)gGa>gAa	p.G39E	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	39						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CATGATAAAGGATTTCAGAAA	0.299000													11	29					0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19260221	19260221	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:19260221C>T	ENST00000602424.2	-	5	798	c.72G>A	c.(70-72)cgG>cgA	p.R24R	MEF2B_ENST00000424583.2_Silent_p.R24R|MEF2B_ENST00000162023.5_Silent_p.R24R|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.R41R|MEF2B_ENST00000410050.1_Silent_p.R24R|MEF2B_ENST00000409447.2_Silent_p.R24R|MEF2B_ENST00000409224.1_Silent_p.R24R|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.R24R|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GCCCGAACTTCCGCTTGGTGA	0.562000													4	67					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49164630	49164630	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:49164630G>A	ENST00000307885.4	-	19	3869	c.3175C>T	c.(3175-3177)Ctg>Ttg	p.L1059L	ADCY6_ENST00000550422.1_Silent_p.L1006L|ADCY6_ENST00000357869.3_Silent_p.L1006L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1059					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TAGTCAGCCAGGGCAGTGATG	0.537000													41	11					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583897	35583897	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:35583897C>T	ENST00000287272.2	+	9	1344	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S	UNC5D_ENST00000416672.1_Missense_Mutation_p.P516S|UNC5D_ENST00000420357.1_Missense_Mutation_p.P444S|UNC5D_ENST00000404895.2_Missense_Mutation_p.P511S|UNC5D_ENST00000449677.1_Missense_Mutation_p.P87S|UNC5D_ENST00000453357.2_Missense_Mutation_p.P506S			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	511					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGGACTTTTCCCCATGGAAA	0.468000													26	47					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19651322	19651322	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:19651322C>T	ENST00000284885.3	-	23	2756	c.2723G>A	c.(2722-2724)aGa>aAa	p.R908K		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	908	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGAACAATTTCTTCCTGGAGG	0.323000													8	13					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223722	35223722	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:35223722C>T	ENST00000338513.1	+	2	964	c.791C>T	c.(790-792)cCc>cTc	p.P264L		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	264					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCAGACCGCCCCCGAGACCAT	0.572000													30	31					0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166378	180166378	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:180166378C>T	ENST00000307832.2	-	1	721	c.681G>A	c.(679-681)gtG>gtA	p.V227V		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGTTGACTTCACCCTCAGCA	0.507000													71	103					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26428262	26428262	+	RNA	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:26428262C>T	ENST00000466808.2	+	0	1231																											AGGAAAGAAACTGCACTAAAG	0.408000													27	57					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37693707	37693707	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:37693707A>T	ENST00000248901.6	+	5	524	c.337A>T	c.(337-339)Acc>Tcc	p.T113S	CYTH4_ENST00000405206.3_Missense_Mutation_p.T113S|CYTH4_ENST00000402997.1_Missense_Mutation_p.T113S|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	113	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						AGCCATTGGTACCTACCTGGG	0.532000													41	64					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139429169	139429169	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:139429169G>A	ENST00000272641.3	-	2	224	c.118C>T	c.(118-120)Cca>Tca	p.P40S		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	40	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		AACGTCCCTGGAGCATCTTTG	0.517000													44	45					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38897412	38897412	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:38897412G>A	ENST00000359357.3	+	73	10847	c.10593G>A	c.(10591-10593)aaG>aaA	p.K3531K	RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Silent_p.K3748K|DNAH8_ENST00000441566.1_Silent_p.K3495K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTAGAAAAGAATTTTATTA	0.353000													18	28					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49148196	49148196	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:49148196G>A	ENST00000453664.1	-	24	3928	c.3610C>T	c.(3610-3612)Cgt>Tgt	p.R1204C	USP19_ENST00000398896.1_Missense_Mutation_p.R921C|USP19_ENST00000398892.3_Missense_Mutation_p.R1153C|USP19_ENST00000417901.1_Missense_Mutation_p.R1216C|USP19_ENST00000398888.2_Missense_Mutation_p.R1113C|USP19_ENST00000398898.2_Missense_Mutation_p.R1153C|USP19_ENST00000434032.2_Missense_Mutation_p.R1214C	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1113					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.R1201C(1)|p.R1214C(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATAAAACTACGAAAGGAGAAG	0.532000													54	63					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63411312	63411312	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:63411312G>A	ENST00000330258.3	-	2	2127	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y	AMER1_ENST00000403336.1_Missense_Mutation_p.H619Y|AMER1_ENST00000374869.3_Missense_Mutation_p.H619Y	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCCCTGCCATGAGCTTCCCAA	0.632000													20	5					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70891709	70891709	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:70891709G>A	ENST00000393567.2	-	72	12344	c.12194C>T	c.(12193-12195)cCc>cTc	p.P4065L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4065										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTTGTGCTCGGGAATTAGGAA	0.463000													17	14					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100373734	100373734	+	Silent	SNP	T	T	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:100373734T>C	ENST00000273352.3	+	12	1703	c.1435T>C	c.(1435-1437)Ttg>Ctg	p.L479L	GPR128_ENST00000475887.1_Silent_p.L184L|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	479					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CATATCAATGTTGATTTTCAA	0.308000													50	66					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16032696	16032696	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:16032696C>T	ENST00000350896.3	-	3	414	c.217_splice	c.e3+1	p.A73_splice	MSR1_ENST00000445506.2_Splice_Site_p.A91_splice|MSR1_ENST00000355282.2_Splice_Site_p.A73_splice|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000381998.4_Splice_Site_p.A73_splice|MSR1_ENST00000262101.5_Splice_Site_p.A73_splice	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	73					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTTACGTTACCTGCCACTATT	0.418000													20	22					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23155596	23155596	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:23155596T>A	ENST00000389131.3	-	14	2654	c.2285A>T	c.(2284-2286)cAc>cTc	p.H762L		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	762					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCCGCTGAAGTGCTCAAACTT	0.537000													9	13					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84488463	84488463	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:84488463G>A	ENST00000416219.2	+	21	2109	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.D674N			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	674					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CATGACTGGGGATGGGGTGAA	0.622000													14	38					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	76003025	76003025	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:76003025G>A	ENST00000274364.6	+	36	4912	c.4614_splice	c.e36-1	p.D1539_splice	IQGAP2_ENST00000396234.3_Splice_Site_p.D1035_splice|IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000379730.3_Splice_Site_p.D1041_splice|IQGAP2_ENST00000502745.1_Splice_Site_p.D1035_splice|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1539					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACAATTTCAGGATTTACTTCA	0.294000													17	23					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473286	53473286	+	RNA	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:53473286G>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							CATTTGTAAGGTTTCTCTCCA	0.363000													36	37					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50238709	50238709	+	Silent	SNP	A	A	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:50238709A>G	ENST00000338821.5	-	19	2283	c.2019T>C	c.(2017-2019)gtT>gtC	p.V673V	ATP9A_ENST00000311637.5_Silent_p.V537V|ATP9A_ENST00000402822.1_Silent_p.V552V	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	673					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAGCATCCAAACCTGAAATC	0.498000													25	43					0	0	1	0	0
NCAPH2	29781	broad.mit.edu	37	22	50960172	50960172	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:50960172A>G	ENST00000395701.3	+	12	1097	c.1003A>G	c.(1003-1005)Agg>Ggg	p.R335G	NCAPH2_ENST00000420993.2_Missense_Mutation_p.R335G|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R335G			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	335					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GCCCCCAGGTAGGCCTTACTC	0.647000													34	41					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1612283	1612283	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:1612283G>A	ENST00000344749.5	-	18	1802	c.1736C>T	c.(1735-1737)tCg>tTg	p.S579L	TCF3_ENST00000588136.1_Missense_Mutation_p.S579L|TCF3_ENST00000453954.2_Missense_Mutation_p.S494L|TCF3_ENST00000395423.3_Intron|TCF3_ENST00000262965.5_Intron	NM_001136139.2	NP_001129611.1	P15923	TFE2_HUMAN	transcription factor 3	582	Helix-loop-helix motif.				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		CGCTTTGTCCGACTTGAGGTG	0.667000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								19	27					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23155595	23155595	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:23155595G>A	ENST00000389131.3	-	14	2655	c.2286C>T	c.(2284-2286)caC>caT	p.H762H		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	762					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCCCGCTGAAGTGCTCAAACT	0.537000													9	14					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155025186	155025186	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:155025186C>T	ENST00000447332.3	+	3	183	c.148C>T	c.(148-150)Cga>Tga	p.R50*	ADAM15_ENST00000360674.4_Missense_Mutation_p.P40L|ADAM15_ENST00000368413.1_Missense_Mutation_p.P40L|ADAM15_ENST00000359280.4_Missense_Mutation_p.P40L|ADAM15_ENST00000356955.2_Missense_Mutation_p.P40L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.P40L|ADAM15_ENST00000531455.1_Missense_Mutation_p.P50L|ADAM15_ENST00000271836.6_Missense_Mutation_p.P40L|ADAM15_ENST00000449910.2_Missense_Mutation_p.P40L|ADAM15_ENST00000368410.2_Missense_Mutation_p.P40L|ADAM15_ENST00000368412.3_Missense_Mutation_p.P40L	NM_001261466.1	NP_001248395.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	41					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAGAAGGCCCCGAGGGAGCCC	0.577000											OREG0013847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80525955	80525955	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:80525955C>T	ENST00000335255.5	+	3	814	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	214					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CCCCTCCAGCCCCCGGGGAGC	0.522000													23	2					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72147133	72147133	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:72147133G>A	ENST00000305425.4	-	4	1566	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.P434S	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	432	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ATCATAAAAGGAAGTTCCAGT	0.398000													25	28					0	0	1	0	0
TTC9C	283237	broad.mit.edu	37	11	62503008	62503008	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:62503008C>T	ENST00000316461.4	+	2	703	c.393C>T	c.(391-393)ctC>ctT	p.L131L	TTC9C_ENST00000532583.1_Silent_p.L131L|TTC9C_ENST00000513247.2_3'UTR	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	131							binding			breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						GCCACTACCTCCTGGCTGCCG	0.522000													14	17					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593547	137593547	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:137593547G>A	ENST00000274721.3	-	4	812	c.566C>T	c.(565-567)cCc>cTc	p.P189L	GFRA3_ENST00000378362.3_Missense_Mutation_p.P158L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	189					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGGCAGTGGGGCCCGGAGCA	0.657000													26	20					0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138199917	138199917	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:138199917C>T	ENST00000237289.4	+	7	1401	c.1335C>T	c.(1333-1335)ccC>ccT	p.P445P		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	445	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CCTATGAGCCCTTGGCGTGGA	0.607000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								27	34					0	0	1	0	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32125486	32125486	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:32125486C>T	ENST00000422437.1	+	6	805	c.614C>T	c.(613-615)cCc>cTc	p.P205L	PPT2_ENST00000361568.2_Missense_Mutation_p.P211L|PPT2_ENST00000324816.6_Missense_Mutation_p.P205L|PPT2_ENST00000375143.2_Missense_Mutation_p.P205L|PPT2_ENST00000375137.2_Missense_Mutation_p.P205L|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000445576.2_Missense_Mutation_p.P205L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000437001.2_Missense_Mutation_p.P82L|PPT2_ENST00000395523.1_Missense_Mutation_p.P205L																							AGAGACCATCCCAATGCCACA	0.517000													15	30					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30867919	30867919	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:30867919G>A	ENST00000251071.5	-	15	3374	c.2624C>T	c.(2623-2625)tCc>tTc	p.S875F	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.S541F|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.S819F|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.S874F|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.S825F	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	875					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGACCGATAGGAATTGGTTAT	0.418000													45	64					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121340767	121340767	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:121340767A>G	ENST00000260197.7	+	2	466	c.337A>G	c.(337-339)Aaa>Gaa	p.K113E	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	113					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGCTGGAGAGAAAAGCAACGT	0.522000													44	44					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42647392	42647392	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:42647392C>T	ENST00000330333.6	+	9	1861	c.1398C>T	c.(1396-1398)ccC>ccT	p.P466P	BACE2_ENST00000328735.6_3'UTR|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Silent_p.P416P	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	466					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TGAGCGAGCCCATTTTGTGGA	0.557000													27	32					0	0	1	0	0
UGT8	7368	broad.mit.edu	37	4	115544660	115544660	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:115544660C>T	ENST00000310836.6	+	2	1146	c.624C>T	c.(622-624)agC>agT	p.S208S	UGT8_ENST00000394511.3_Silent_p.S208S	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	208					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TAGGGGTCAGCTTTCTGGTTC	0.458000													36	59					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229786999	229786999	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:229786999C>T	ENST00000258243.2	+	8	4303	c.4167C>T	c.(4165-4167)atC>atT	p.I1389I		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1389						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGAAAGCCATCCCTTCTTTCT	0.363000													15	19					0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110030200	110030200	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:110030200C>T	ENST00000453089.2	+	3	1921	c.1040C>T	c.(1039-1041)tCa>tTa	p.S347L	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.S379L|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.S378L			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	378							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTAATGTATTCATTTGTCAAT	0.368000													9	6					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43206999	43206999	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:43206999C>T	ENST00000255226.6	+	4	1224	c.408C>T	c.(406-408)ctC>ctT	p.L136L	SLC14A2_ENST00000586448.1_Silent_p.L136L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	136						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAATCCTCTCAGCGGCCTCA	0.557000													63	66					0	0	1	0	0
C19orf35	374872	broad.mit.edu	37	19	2276361	2276361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:2276361C>T	ENST00000342063.3	-	4	833	c.740G>A	c.(739-741)tGg>tAg	p.W247*		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	247										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		TGCGCCTCTCCAGGGCGCCCC	0.711000													6	9					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4683502	4683502	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:4683502G>A	ENST00000262960.9	-	19	2595	c.2318C>T	c.(2317-2319)cCc>cTc	p.P773L	DPP9_ENST00000598800.1_Missense_Mutation_p.P744L|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000601173.1_5'UTR|DPP9_ENST00000594671.1_Missense_Mutation_p.P744L	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	744					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GAACACCTGGGGCTTGTGGAT	0.667000													23	27					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103825818	103825818	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:103825818C>T	ENST00000299238.5	+	1	672	c.587C>T	c.(586-588)tCc>tTc	p.S196F		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	196						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CTGCTGGCCTCCTGCAGACAA	0.662000									Hermansky-Pudlak syndrome				17	33					0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895592	24895592	+	Missense_Mutation	SNP	G	G	A	rs146807462		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:24895592G>A	ENST00000382071.2	+	4	773	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	230	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCTGTATAACGAATTCAACCA	0.428000													65	120					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023645	76023645	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:76023645C>T	ENST00000393004.2	-	5	2124	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K	FILIP1_ENST00000370020.1_Missense_Mutation_p.E536K|FILIP1_ENST00000237172.7_Missense_Mutation_p.E635K|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	635										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCTCAATTTCAAGTGTTAGT	0.413000													122	130					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153991451	153991451	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:153991451C>T	ENST00000368559.3	-	33	4682	c.4611G>A	c.(4609-4611)atG>atA	p.M1537I	NUP210L_ENST00000271854.3_Missense_Mutation_p.M1537I|NUP210L_ENST00000368553.1_Missense_Mutation_p.M470I	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1537						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATGAAAAATCATTGCAGTCC	0.438000													40	65					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53076606	53076606	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:53076606G>A	ENST00000276480.7	-	13	2023	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	447						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTATCCTGGGACATTGCCAA	0.413000													41	36					0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148861626	148861626	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:148861626C>T	ENST00000367467.3	+	17	2618	c.2143C>T	c.(2143-2145)Cag>Tag	p.Q715*		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	715							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGTTGACAGCCAGGGCCTGAG	0.527000													10	4					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7687732	7687732	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:7687732C>T	ENST00000358368.4	-	10	1324	c.1287G>A	c.(1285-1287)gtG>gtA	p.V429V	XAB2_ENST00000534844.1_Silent_p.V426V	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	429					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCAGGTCATCCACCTGCTTGA	0.647000								Direct reversal of damage;Nucleotide excision repair (NER)					11	16					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266830	107266830	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:107266830G>A	ENST00000334726.2	+	1	376	c.287G>A	c.(286-288)gGg>gAg	p.G96E		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCATTCTCAGGGTGCGCCACT	0.527000													10	5					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345158	20345158	+	Silent	SNP	C	C	T	rs141738617		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:20345158C>T	ENST00000298642.2	+	1	768	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F244F(3)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGCTCATTTCATTGTTGTCT	0.378000													64	186					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369799	86369799	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:86369799G>A	ENST00000400286.2	-	2	1443	c.845C>T	c.(844-846)tCa>tTa	p.S282L		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	282						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CAGATGTAATGATCCTGAAGG	0.408000													52	65					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362181	9362181	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:9362181G>A	ENST00000456448.1	+	1	576	c.462G>A	c.(460-462)atG>atA	p.M154I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GAATCATCATGAACCCACGCC	0.443000													17	32					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159670097	159670097	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:159670097C>T	ENST00000297267.9	+	16	4917	c.4717C>T	c.(4717-4719)Cca>Tca	p.P1573S	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1510S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1573						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTCAAGGCCACCAACCACCAC	0.483000													5	3					0	0	1	0	0
SPINK6	404203	broad.mit.edu	37	5	147594480	147594480	+	Silent	SNP	A	A	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:147594480A>G	ENST00000325630.2	+	4	466	c.210A>G	c.(208-210)ggA>ggG	p.G70G		NM_001195290.1|NM_205841.3	NP_001182219.1|NP_995313.2	Q6UWN8	ISK6_HUMAN	serine peptidase inhibitor, Kazal type 6	70	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGTGGTGGAAAGATTAGCC	0.368000													12	27					0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333061	70333061	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:70333061C>T	ENST00000338508.4	-	32	3339	c.3340G>A	c.(3340-3342)Ggc>Agc	p.G1114S	SHANK2_ENST00000449833.2_Missense_Mutation_p.G518S|SHANK2_ENST00000423696.2_Missense_Mutation_p.G734S|SHANK2_ENST00000409161.1_Missense_Mutation_p.G517S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	734					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGCCCCAGGCCCACATCCTCA	0.697000													25	22					0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714785	65714785	+	RNA	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:65714785G>A	ENST00000532620.1	+	0	720							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GCTGCTGGAAGACAGAGGCGC	0.652000													10	16					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458129	248458129	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:248458129C>T	ENST00000317996.1	-	1	751	c.752G>A	c.(751-753)gGa>gAa	p.G251E		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AATGCCAGCTCCATAAAAGAG	0.488000													48	57					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117243293	117243293	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:117243293G>A	ENST00000332958.2	+	13	1432	c.1416G>A	c.(1414-1416)gtG>gtA	p.V472V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	472					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGGATACTGTGGTAGAACAGA	0.368000													24	39					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155772	151155772	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:151155772G>A	ENST00000282466.3	-	6	6576	c.6577C>T	c.(6577-6579)Cat>Tat	p.H2193Y	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2193	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCATTGGCATGAAATGTGTAC	0.443000													48	65					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29436869	29436869	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:29436869C>T	ENST00000389048.3	-	24	4630	c.3724G>A	c.(3724-3726)Gaa>Aaa	p.E1242K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1242	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AAGTGGTTTTCCTCCAAATAC	0.572000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				18	34					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980881	121980881	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:121980881C>T	ENST00000498619.1	+	4	1437	c.999C>T	c.(997-999)ttC>ttT	p.F333F	CASR_ENST00000490131.1_Silent_p.F333F|CASR_ENST00000296154.5_Silent_p.F333F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	333					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCCGGGAATTCCTGAAGAAGG	0.537000													33	40					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700663	136700663	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:136700663G>A	ENST00000445907.2	+	3	1579	c.1051G>A	c.(1051-1053)Ggt>Agt	p.G351S	CHRM2_ENST00000397608.3_Missense_Mutation_p.G351S|CHRM2_ENST00000453373.1_Missense_Mutation_p.G351S|CHRM2_ENST00000320658.5_Missense_Mutation_p.G351S|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.G351S|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.G351S	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	351					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GGGGTCTTCAGGTCAGAATGG	0.463000													33	66					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233410392	233410392	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:233410392G>A	ENST00000389494.3	+	12	1541	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	CHRNG_ENST00000389492.3_Missense_Mutation_p.G455E	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	507					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCATTCCCTGGAGATCCACGC	0.612000													29	39					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673741	3673741	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:3673741C>T	ENST00000344754.4	-	14	3545	c.3546G>A	c.(3544-3546)gaG>gaA	p.E1182E	SIGLEC1_ENST00000202578.4_Silent_p.E1182E	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1182	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGCCATGGCTCTCCAGGAGGT	0.692000													16	12					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431960	135431960	+	Missense_Mutation	SNP	C	C	T	rs145052934		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:135431960C>T	ENST00000394143.1	+	6	6386	c.6095C>T	c.(6094-6096)tCc>tTc	p.S2032F	GPR112_ENST00000412101.1_Missense_Mutation_p.S1827F|GPR112_ENST00000370652.1_Missense_Mutation_p.S2032F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1827F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1969F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2032					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S2032F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTTATGACTTCCTCTACAGTA	0.448000													67	5					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607124	84607124	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:84607124C>T	ENST00000344803.2	+	4	1786	c.1739C>T	c.(1738-1740)tCc>tTc	p.S580F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CAGGTGAAGTCCCTGGCTCAA	0.542000													46	54					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119325752	119325752	+	Missense_Mutation	SNP	G	G	A	rs148143400		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:119325752G>A	ENST00000273371.4	+	2	277	c.205G>A	c.(205-207)Gga>Aga	p.G69R	PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.G53R|PLA1A_ENST00000495992.1_Missense_Mutation_p.G69R	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	69					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCTAGTAGAAGGAAGCAGTGA	0.483000													69	89					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112525151	112525151	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:112525151C>T	ENST00000369697.1	-	1	267	c.198G>A	c.(196-198)ctG>ctA	p.L66L	KCND3_ENST00000302127.4_Silent_p.L66L|KCND3_ENST00000315987.2_Silent_p.L66L			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	66						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CCGTGCTGCCCAGCAGGGTGT	0.597000													39	39					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607125	84607125	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:84607125C>T	ENST00000344803.2	+	4	1787	c.1740C>T	c.(1738-1740)tcC>tcT	p.S580S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AGGTGAAGTCCCTGGCTCAAC	0.542000													46	52					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168720	50168720	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:50168720C>T	ENST00000284509.6	-	25	2923	c.2781_splice	c.e25-1	p.D928_splice	ATP8B4_ENST00000559829.1_Splice_Site_p.D928_splice	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	928					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCACTCACATCCTGTAAACAG	0.413000													26	22					0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958817	57958817	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:57958817G>A	ENST00000311591.3	+	1	912	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCCCAATGCTGAATCCCCTTA	0.522000													43	33					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10363534	10363534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:10363534G>A	ENST00000255381.2	-	13	1362	c.1252C>T	c.(1252-1254)Cag>Tag	p.Q418*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	418	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCACAGTCTGGCCTTTGGTT	0.413000													53	11					0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72723251	72723251	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:72723251G>A	ENST00000377182.4	+	3	890	c.273G>A	c.(271-273)tcG>tcA	p.S91S	MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	91	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCACATCTTCGGAGTCTCTGT	0.502000													21	31					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751612	140751612	+	Silent	SNP	T	T	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:140751612T>C	ENST00000576222.1	+	1	1782	c.1651T>C	c.(1651-1653)Ttg>Ctg	p.L551L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCGCGTGTTGGTGGACGA	0.672000													19	37					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7721804	7721804	+	Silent	SNP	A	A	C	rs140754490		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:7721804A>C	ENST00000486284.1	+	9	2794	c.2520A>C	c.(2518-2520)ctA>ctC	p.L840L	GRM7_ENST00000357716.4_Silent_p.L840L|GRM7_ENST00000403881.1_Silent_p.L840L|GRM7_ENST00000402647.2_Silent_p.L840L|GRM7_ENST00000389336.4_Silent_p.L840L	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	840					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGGGGATGCTATACATGCCGA	0.473000													41	36					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8197366	8197366	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:8197366C>T	ENST00000162391.3	+	6	1774	c.629C>T	c.(628-630)tCt>tTt	p.S210F	FOXJ2_ENST00000428177.2_Missense_Mutation_p.S210F	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	210					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GGCACAGGATCTGTGGATGGT	0.527000													57	53					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24472149	24472149	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:24472149C>T	ENST00000398319.2	+	19	3049	c.2664C>T	c.(2662-2664)tcC>tcT	p.S888S	CABIN1_ENST00000263119.5_Silent_p.S888S|CABIN1_ENST00000405822.2_Silent_p.S838S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	888					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCCCATCCTCCCTCATGCTGC	0.582000													14	28					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139739896	139739896	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:139739896G>A	ENST00000230993.6	+	1	110	c.75G>A	c.(73-75)ctG>ctA	p.L25L	SLC4A9_ENST00000432095.2_Silent_p.L25L|SLC4A9_ENST00000506757.2_Silent_p.L25L|SLC4A9_ENST00000507527.1_Silent_p.L25L|SLC4A9_ENST00000506545.1_Silent_p.L25L	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	25						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGGAGCTGGACAGCAACC	0.562000													12	10					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189870933	189870933	+	Splice_Site	SNP	G	G	A	rs121912916		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:189870933G>A	ENST00000304636.3	+	42	3211	c.3039_splice	c.e42-1	p.G1014_splice	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1014	Triple-helical region.		G -> E (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTAATCAGGGAAACCCTGGA	0.388000													28	24					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60505760	60505760	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:60505760G>A	ENST00000371201.3	-	5	683	c.576C>T	c.(574-576)tcC>tcT	p.S192S	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	192							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTAATAAGTTGGAACTCAAAG	0.453000													36	52					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32087495	32087495	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:32087495C>T	ENST00000438447.1	+	20	4329	c.3941C>T	c.(3940-3942)cCc>cTc	p.P1314L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1314L			O15018	PDZD2_HUMAN	PDZ domain containing 2	1314					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACCAGCACACCCCACAATACC	0.652000													24	45					0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15853149	15853149	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:15853149C>T	ENST00000305892.1	+	1	947	c.947C>T	c.(946-948)tCc>tTc	p.S316F		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCTCTAAGCTCCTAATGGCCA	0.408000													36	45					0	0	1	0	0
MRI1	84245	broad.mit.edu	37	19	13876864	13876864	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:13876864C>T	ENST00000040663.6	+	3	508	c.468C>T	c.(466-468)gcC>gcT	p.A156A	MRI1_ENST00000319545.8_Intron	NM_001031727.2	NP_001026897.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	156					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						AGCGGGTGGCCCCCAGCGGTG	0.632000													12	29					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61324857	61324857	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:61324857C>T	ENST00000402291.1	+	12	1476	c.1235C>T	c.(1234-1236)tCa>tTa	p.S412L	KIAA1841_ENST00000356719.2_Missense_Mutation_p.S412L|KIAA1841_ENST00000295031.5_Missense_Mutation_p.S412L|KIAA1841_ENST00000453873.1_Missense_Mutation_p.S412L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	412										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATTGAATTTTCACATTGTCAA	0.328000													31	38					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149907734	149907734	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:149907734C>T	ENST00000261797.6	+	3	1384	c.882C>T	c.(880-882)ttC>ttT	p.F294F	NDST1_ENST00000523767.1_Silent_p.F294F	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	294	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCTTGTCTTCGTGGATGCCG	0.607000													50	57					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117963012	117963012	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:117963012G>A	ENST00000425217.1	-	14	1831	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	KSR2_ENST00000302438.5_Missense_Mutation_p.H319Y|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.H622Y	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	622					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCTCATCATGGACCTCTTCA	0.602000													10	7					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			77	92					1.15098e-32	1.17308e-32	1	1	0
POLR1A	25885	broad.mit.edu	37	2	86316997	86316997	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:86316997T>C	ENST00000263857.6	-	4	866	c.488A>G	c.(487-489)cAa>cGa	p.Q163R	POLR1A_ENST00000409681.1_Missense_Mutation_p.Q163R			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	163					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGTTGTGTATTGTTCTAATTC	0.438000													30	31					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125592977	125592977	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:125592977G>A	ENST00000504087.1	-	4	2492	c.1455C>T	c.(1453-1455)tcC>tcT	p.S485S	ANKRD50_ENST00000515641.1_Silent_p.S306S	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	485										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAGTAGAAAGGGAATCTCTGA	0.423000													54	74					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166999063	166999063	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:166999063G>A	ENST00000061240.2	+	18	2970	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	TLL1_ENST00000507499.1_Missense_Mutation_p.E798K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	775	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGCTGAGTGTGAACAGAAGAT	0.512000													13	25					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732122	152732122	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:152732122G>A	ENST00000368773.1	+	2	116	c.58G>A	c.(58-60)Ggt>Agt	p.G20S	KPRP_ENST00000606109.1_Missense_Mutation_p.G20S	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	20	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCGTCAAGGGTCCCTCCTT	0.582000													32	54					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41388024	41388024	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:41388024C>T	ENST00000301146.4	-	1	633	c.92G>A	c.(91-93)gGg>gAg	p.G31E	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.G31E	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	31						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGCAGCTTCCCCCTGCTCTT	0.582000													29	25					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156618614	156618614	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:156618614C>T	ENST00000329117.4	+	6	1360	c.1024C>T	c.(1024-1026)Ccc>Tcc	p.P342S	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.P342S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	342	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACTGGCTTCCCCAATAAGCA	0.577000													68	104					0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43652459	43652459	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:43652459G>A	ENST00000372492.4	+	6	1375	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	WDR65_ENST00000528956.1_Missense_Mutation_p.E351K	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	351										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCCTCAGAGGAAACTCTGGT	0.512000													27	39					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566706	20566706	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:20566706C>T	ENST00000329697.6	-	4	649	c.481G>A	c.(481-483)Gat>Aat	p.D161N	ACSM2B_ENST00000567001.1_Missense_Mutation_p.D161N|ACSM2B_ENST00000565232.1_Missense_Mutation_p.D161N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D82N|ACSM2B_ENST00000414188.2_Missense_Mutation_p.D161N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	161					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATGACTTCATCCCCAGCAACA	0.453000													78	82					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75160976	75160976	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:75160976G>A	ENST00000526177.1	-	3	1892	c.14C>T	c.(13-15)gCc>gTc	p.A5V	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000336898.3_Missense_Mutation_p.A143V|GDPD5_ENST00000533784.1_Intron|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000529721.1_Missense_Mutation_p.A143V			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	143					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CCACAGCTGGGCCACGGCCGA	0.647000													17	28					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613436	14613436	+	Silent	SNP	A	A	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:14613436A>G	ENST00000544627.1	+	9	2510	c.2190A>G	c.(2188-2190)tcA>tcG	p.S730S	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Silent_p.S721S|ATF7IP_ENST00000536444.1_Silent_p.S721S|ATF7IP_ENST00000261168.4_Silent_p.S722S|ATF7IP_ENST00000540793.1_Silent_p.S722S			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	722	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAGTATCTTCAACCAATCTTG	0.378000													35	65					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32266186	32266186	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:32266186C>T	ENST00000360482.2	-	4	1587	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G	SPOCD1_ENST00000373648.2_Intron|SPOCD1_ENST00000257100.3_5'UTR|SPOCD1_ENST00000533231.1_Silent_p.G486G	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	486					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GGCTGATGGCCCCCAGGAGCT	0.667000													8	5					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75160974	75160974	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:75160974G>A	ENST00000526177.1	-	3	1894	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000336898.3_Nonsense_Mutation_p.Q144*|GDPD5_ENST00000533784.1_Intron|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000529721.1_Nonsense_Mutation_p.Q144*			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	144					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TCCCACAGCTGGGCCACGGCC	0.647000													16	29					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73014888	73014888	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:73014888G>A	ENST00000261180.4	+	14	2431	c.2334_splice	c.e14-1	p.E779_splice		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	779					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCCCATTTAGGAATATATTTT	0.279000													16	25					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89618092	89618092	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:89618092C>T	ENST00000294671.2	-	5	622	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	162						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCCTCAACTTCATCAGGTCTG	0.478000													56	52					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89068387	89068387	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:89068387G>A	ENST00000251038.5	+	11	1699	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	ZC3H14_ENST00000393514.5_Missense_Mutation_p.D467N|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000555900.1_Missense_Mutation_p.D194N|ZC3H14_ENST00000555755.1_Missense_Mutation_p.D492N|ZC3H14_ENST00000406216.3_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	492						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GAAGACTGCAGATTCCCTTCG	0.428000													45	5					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35791052	35791052	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:35791052C>T	ENST00000361922.4	+	6	865	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	MAG_ENST00000537831.2_Missense_Mutation_p.P214S|MAG_ENST00000392213.3_Missense_Mutation_p.P239S	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	239					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCTTAGACCCCCCGGTGAT	0.697000													3	12					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16583246	16583246	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:16583246G>A	ENST00000375592.3	-	5	727	c.511C>T	c.(511-513)Cct>Tct	p.P171S		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	171										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TTGGGGGAAGGATAGGACCCT	0.522000													30	36					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13092489	13092489	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:13092489C>T	ENST00000506447.1	+	34	6297	c.6217C>T	c.(6217-6219)Ctt>Ttt	p.L2073F	CEP192_ENST00000430049.2_Missense_Mutation_p.L1598F|CEP192_ENST00000325971.8_Missense_Mutation_p.L1477F|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1668										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAGAGAATTCCTTCAGCCTTC	0.363000													4	44					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123514862	123514862	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:123514862C>T	ENST00000422452.2	-	32	7786	c.7723G>A	c.(7723-7725)Gag>Aag	p.E2575K	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.E2568K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCCCTCCCCTCTATGGTAAAA	0.483000													57	8					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90245106	90245106	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:90245106C>T	ENST00000268130.7	+	2	230	c.129C>T	c.(127-129)ctC>ctT	p.L43L	WDR93_ENST00000558000.1_Silent_p.L43L|WDR93_ENST00000560294.1_Silent_p.L43L	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	43					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATCATGTCCTCGTGGATCCAG	0.483000													38	38					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684184	75684184	+	Missense_Mutation	SNP	C	C	T	rs143004355	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:75684184C>T	ENST00000370855.5	-	17	1633	c.1520G>A	c.(1519-1521)cGa>cAa	p.R507Q	SLC44A5_ENST00000535611.1_Missense_Mutation_p.R377Q|SLC44A5_ENST00000370859.3_Missense_Mutation_p.R507Q	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	507						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCGTATGGCTCGTCCAAATGC	0.433000													88	107					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167297944	167297944	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:167297944G>A	ENST00000409855.1	-	14	2245	c.2119C>T	c.(2119-2121)Cct>Tct	p.P707S		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	707					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGGTAAAAAGGAATACACCAG	0.393000													21	21					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74347571	74347571	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:74347571C>T	ENST00000226355.3	+	1	172	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	27	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACACAACCTCGGGATATAGG	0.294000													15	20					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154561921	154561921	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:154561921C>T	ENST00000368474.4	-	9	2885	c.2686G>A	c.(2686-2688)Gga>Aga	p.G896R	ADAR_ENST00000368471.3_Missense_Mutation_p.G601R|ADAR_ENST00000292205.5_Missense_Mutation_p.G939R	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	896	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AGAGAATCTCCTTTCACACAG	0.448000													23	34					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166929186	166929186	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:166929186G>A	ENST00000061240.2	+	7	1550	c.903G>A	c.(901-903)agG>agA	p.R301R	TLL1_ENST00000513213.1_Silent_p.R301R|TLL1_ENST00000507499.1_Silent_p.R301R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	301	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACTATGCCAGGAACACCTTCT	0.418000													25	39					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6820787	6820787	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:6820787C>T	ENST00000304076.2	+	2	373	c.279C>T	c.(277-279)ctC>ctT	p.L93L	VAV1_ENST00000539284.1_Silent_p.L28L|VAV1_ENST00000602142.1_Silent_p.L93L|VAV1_ENST00000596764.1_Silent_p.L93L|VAV1_ENST00000599806.1_Silent_p.L38L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	93	CH.|Leu-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGAGCGAGCTCTTCGAAGCCT	0.483000													47	71					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851444	34851444	+	Silent	SNP	C	C	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:34851444C>A	ENST00000360581.1	+	4	575	c.447C>A	c.(445-447)gcC>gcA	p.A149A	NPSR1_ENST00000381539.3_Silent_p.A149A|NPSR1_ENST00000531252.1_Silent_p.A138A|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000359791.1_Silent_p.A149A	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	149						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GATACCATGCCATCGTCTACC	0.478000													38	51					7.05121e-23	7.16367e-23	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	41976878	41976878	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:41976878G>A	ENST00000372584.1	-	8	7476	c.6462C>T	c.(6460-6462)tcC>tcT	p.S2154S	HIVEP3_ENST00000372583.1_Silent_p.S2155S|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Silent_p.S2155S|HIVEP3_ENST00000429157.2_Silent_p.S2154S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2155					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGAAGGGTCGGGAGGAGAGAG	0.602000													19	24					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884924	63884924	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:63884924G>A	ENST00000246841.3	+	2	2228	c.1185G>A	c.(1183-1185)acG>acA	p.T395T	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	367					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCAAGACCACGGCCAGCAACC	0.642000													22	25					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534816	55534816	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:55534816C>T	ENST00000220676.1	+	3	903	c.755C>T	c.(754-756)cCc>cTc	p.P252L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	252					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGTGTGTACCCCAAGGGAAAT	0.428000													24	39					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98376456	98376456	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:98376456G>A	ENST00000339364.5	-	13	2073	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R251W|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R474W	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	652						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCTCTTAGCCGTTTAAGATTT	0.413000													44	67					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223400943	223400943	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:223400943G>A	ENST00000343846.3	-	6	1687	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	SUSD4_ENST00000366878.4_Missense_Mutation_p.P352S|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.P192S			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	352						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GACCTGGGGGGAAAGTGGGCC	0.547000													13	17					0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889911	30889911	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:30889911C>T	ENST00000475541.1	-	1	1320	c.388G>A	c.(388-390)Ggc>Agc	p.G130S	PURG_ENST00000339382.2_Missense_Mutation_p.G130S	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	130						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCTTTCAGGCCCAGGTGGGCA	0.597000													50	79					0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242289490	242289490	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:242289490C>T	ENST00000391973.2	+	12	1515	c.987C>T	c.(985-987)ctC>ctT	p.L329L	SEPT2_ENST00000407971.1_Silent_p.L289L|SEPT2_ENST00000402092.2_Silent_p.L329L|SEPT2_ENST00000401990.1_Silent_p.L339L|SEPT2_ENST00000391971.2_Silent_p.L329L|SEPT2_ENST00000360051.3_Silent_p.L329L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	329					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GTTCACAGCTCCGCCGCATGC	0.502000													12	20					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397939	111397939	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:111397939C>T	ENST00000265162.5	+	1	711	c.369C>T	c.(367-369)atC>atT	p.I123I		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	123					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCATCTCCATCAACCTGAGCG	0.637000													56	83					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52370278	52370278	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:52370278G>A	ENST00000296585.5	+	21	2778	c.2635G>A	c.(2635-2637)Ggc>Agc	p.G879S		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	879					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTGCGATGTAGGCTACCCTGC	0.443000													16	16					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390533	197390533	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:197390533C>T	ENST00000367400.3	+	6	1710	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	CRB1_ENST00000367399.2_Silent_p.F413F|CRB1_ENST00000544212.1_Silent_p.F6F|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000535699.1_Silent_p.F456F|CRB1_ENST00000538660.1_Silent_p.F525F|CRB1_ENST00000543483.1_Silent_p.F224F	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	525	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTCTACTTTTCCGAAGCAACA	0.453000													40	57					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53679727	53679727	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:53679727G>A	ENST00000262135.4	-	17	2586	c.2493C>T	c.(2491-2493)ccC>ccT	p.P831P	RPGRIP1L_ENST00000379925.3_Silent_p.P831P|RPGRIP1L_ENST00000564374.1_Silent_p.P831P|RPGRIP1L_ENST00000563746.1_Silent_p.P831P	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	831	C2 2.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CATTGCTACTGGGAATGATAG	0.433000													53	90					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900949	123900949	+	Missense_Mutation	SNP	C	C	T	rs150048996		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:123900949C>T	ENST00000431524.1	+	1	653	c.620C>T	c.(619-621)tCg>tTg	p.S207L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATAGTGGCCTCGGGCTGCTTT	0.532000													55	77					0	0	1	0	0
RNF19B	127544	broad.mit.edu	37	1	33402651	33402651	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:33402651G>A	ENST00000373456.7	-	9	1954	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.P651L	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	652						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATGTCCCAAGGTTTGCTGGC	0.547000													59	70					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25243107	25243107	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:25243107C>T	ENST00000354454.3	+	13	1411	c.582C>T	c.(580-582)atC>atT	p.I194I	LRMP_ENST00000548766.1_Silent_p.I194I|LRMP_ENST00000547044.1_Silent_p.I194I	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	250					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AGAAAGAAATCACTAACTGTT	0.403000													32	29					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620365	7620365	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:7620365C>T	ENST00000486284.1	+	8	2046	c.1772C>T	c.(1771-1773)gCt>gTt	p.A591V	GRM7_ENST00000357716.4_Missense_Mutation_p.A591V|GRM7_ENST00000403881.1_Missense_Mutation_p.A591V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.A591V|GRM7_ENST00000389336.4_Missense_Mutation_p.A591V	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	591					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCCCCCTGGGCTGTGATTCCT	0.527000													46	55					0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50256137	50256137	+	RNA	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:50256137C>T	ENST00000420502.1	+	0	1302							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CAGTGCCCATCGTTCTGTTCC	0.627000													15	28					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50898062	50898062	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:50898062G>A	ENST00000380817.2	-	27	3708	c.3525C>T	c.(3523-3525)gtC>gtT	p.V1175V	SBF1_ENST00000348911.6_Silent_p.V1176V|SBF1_ENST00000390679.3_Silent_p.V1175V	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1175	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGTTGTCCTGGACACTCTGGG	0.701000													12	10					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48522659	48522659	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:48522659C>T	ENST00000396577.3	+	7	1149	c.934C>T	c.(934-936)Ctt>Ttt	p.L312F	SLC12A1_ENST00000558405.1_Missense_Mutation_p.L312F|SLC12A1_ENST00000330289.6_Missense_Mutation_p.L312F|SLC12A1_ENST00000380993.3_Missense_Mutation_p.L312F|SLC12A1_ENST00000559723.1_3'UTR	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	312					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGTGGTGATTCTTCTAGGAAT	0.413000													7	14					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74506957	74506957	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:74506957T>C	ENST00000354431.4	-	7	1849	c.1658A>G	c.(1657-1659)aAg>aGg	p.K553R	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.K553R	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	553										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TAGTTTTTGCTTAACAATCAG	0.313000													27	36					0	0	1	0	0
PGS1	9489	broad.mit.edu	37	17	76399923	76399923	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:76399923C>T	ENST00000262764.6	+	7	1181	c.1155C>T	c.(1153-1155)acC>acT	p.T385T	PGS1_ENST00000329897.7_Silent_p.T250T|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	385					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCTACCTCACCACTGGCTATT	0.552000													42	9					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42679998	42679998	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:42679998G>A	ENST00000358131.5	+	4	699	c.491G>A	c.(490-492)gGg>gAg	p.G164E	TOX2_ENST00000423191.1_Missense_Mutation_p.G113E|TOX2_ENST00000341197.3_Missense_Mutation_p.G155E|TOX2_ENST00000372999.1_Missense_Mutation_p.G113E|TOX2_ENST00000435864.2_Missense_Mutation_p.G33E	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCGGCCCGGGCCCCTGCTG	0.642000													24	25					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102057344	102057344	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:102057344C>T	ENST00000318222.3	-	5	1133	c.751G>A	c.(751-753)Gat>Aat	p.D251N	PKD2L1_ENST00000353274.3_Missense_Mutation_p.D251N|PKD2L1_ENST00000338519.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	251					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCCAACTCATCCTGCGAGTGG	0.567000													13	19					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144288587	144288587	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:144288587G>A	ENST00000549981.1	-	9	802	c.79C>T	c.(79-81)Caa>Taa	p.Q27*	TPK1_ENST00000538212.2_Intron|TPK1_ENST00000360057.3_Nonsense_Mutation_p.Q144*|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000378099.3_Intron			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	144					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TGAGTCGCTTGGAACAAGGTA	0.448000													45	45					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7230628	7230628	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:7230628C>T	ENST00000379938.2	+	10	2833	c.2296C>T	c.(2296-2298)Cgt>Tgt	p.R766C	RREB1_ENST00000349384.6_Missense_Mutation_p.R766C|RREB1_ENST00000379933.3_Missense_Mutation_p.R766C|RREB1_ENST00000334984.6_Missense_Mutation_p.R766C	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	766					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAAGCACTATCGTGCCCTGCG	0.692000													19	39					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44463367	44463367	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:44463367G>A	ENST00000372310.3	-	14	1917	c.1752C>T	c.(1750-1752)gcC>gcT	p.A584A	SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000475075.2_Silent_p.A473A|SLC6A9_ENST00000357730.2_Silent_p.A603A|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000360584.2_Silent_p.A657A	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	657						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GCTCCAGGAGGGCAGGGCCCC	0.647000													73	94					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104126945	104126945	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:104126945G>A	ENST00000388887.2	+	51	5649	c.5445G>A	c.(5443-5445)gtG>gtA	p.V1815V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1815	FAS1 6.				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			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGTTTCATGTGATACGAGATG	0.468000													67	12					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266103	41266103	+	Missense_Mutation	SNP	G	G	A	rs121913399		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:41266103G>A	ENST00000349496.5	+	3	380	c.100G>A	c.(100-102)Gga>Aga	p.G34R	CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34R|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34R|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27R|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34R	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	34			G -> E (in PTR).|G -> R (in hepatocellular carcinoma).|G -> V (in hepatoblastoma; dbSNP:rs28931589).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.G34R(87)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.S33_G34insGTS(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.GIHS34?(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.S33_G34insGI(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CCTGGACTCTGGAATCCATTC	0.488000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				20	18					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38265500	38265500	+	Splice_Site	SNP	G	G	A	rs144829002	by1000genomes	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:38265500G>A	ENST00000553443.1	+	19	3793	c.3791_splice	c.e19-1	p.G1265_splice	TTC6_ENST00000267368.7_5'UTR|TTC6_ENST00000476979.1_5'UTR|TTC6_ENST00000554555.1_3'UTR|TTC6_ENST00000382320.3_5'UTR					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TTCTTCCAGAGGACAATATCT	0.234000													10	1					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593051	179593051	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:179593051C>T	ENST00000589042.1	-	67	19724	c.19500G>A	c.(19498-19500)atG>atA	p.M6500I	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.M6183I|TTN_ENST00000342992.6_Missense_Mutation_p.M5256I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6183	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGCACTCCATATGAATAG	0.378000													12	18					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397659	111397659	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:111397659G>A	ENST00000265162.5	+	1	431	c.89G>A	c.(88-90)gGa>gAa	p.G30E		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	30					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GTGGGTGTAGGATTAATAGTG	0.562000													62	82					0	0	1	0	0
CHIAP2	149620	broad.mit.edu	37	1	111824267	111824267	+	RNA	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:111824267C>T	ENST00000369743.4	+	0	151					NR_003928.1																						ACCCCTGCCTCTGTACCCACT	0.532000													21	39					0	0	1	0	0
IFNA10	3446	broad.mit.edu	37	9	21206905	21206905	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:21206905C>T	ENST00000357374.2	-	1	237	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	64					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CATCAAACTCCTCCTGGGGGA	0.512000													68	109					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30932964	30932964	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:30932964G>A	ENST00000597505.1	-	26	3656	c.3657C>T	c.(3655-3657)acC>acT	p.T1219T	DCDC1_ENST00000339794.5_Silent_p.T298T|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAAGGTGAAAGGTCCTTGGGA	0.453000													2	1					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102351	168102351	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:168102351G>A	ENST00000409195.1	+	9	4538	c.4449G>A	c.(4447-4449)caG>caA	p.Q1483Q	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Q1483Q|XIRP2_ENST00000409273.1_Silent_p.Q1261Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1308					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGATGTGCAGAAAGGTGATG	0.378000													35	57					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123725196	123725196	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:123725196C>T	ENST00000223642.1	-	35	4402	c.4373G>A	c.(4372-4374)gGa>gAa	p.G1458E		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1458					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AATAACATGTCCATCTTTGAT	0.338000													63	90					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113103073	113103073	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:113103073G>A	ENST00000316851.7	+	10	1392	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L	NCAM1_ENST00000533760.1_Silent_p.L346L|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.L473L	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	474	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CCAGCTATCTGGAGGTGAGTC	0.537000													27	31					0	0	1	0	0
PGF	5228	broad.mit.edu	37	14	75416246	75416246	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:75416246G>A	ENST00000555567.1	-	3	670	c.129C>T	c.(127-129)ttC>ttT	p.F43F	PGF_ENST00000553716.1_Silent_p.F43F|PGF_ENST00000405431.2_Silent_p.F43F|PGF_ENST00000238607.6_Silent_p.F42F	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN	placental growth factor	43					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		ACACTTCCTGGAAGGGTACCA	0.652000													8	1					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48612531	48612531	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:48612531C>T	ENST00000328333.8	-	75	6352	c.6245G>A	c.(6244-6246)gGa>gAa	p.G2082E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2050E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2082	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCAGGGGTTCCAGGGAGTCC	0.647000													29	33					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32915400	32915400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:32915400C>T	ENST00000383763.4	+	2	1006	c.943C>T	c.(943-945)Cag>Tag	p.Q315*		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	315					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATCTACCTCCAGGAGGCACT	0.612000													90	117					0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	462334	462334	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:462334C>T	ENST00000512944.1	+	9	1754	c.1565C>T	c.(1564-1566)cCg>cTg	p.P522L	EXOC3_ENST00000315013.5_Missense_Mutation_p.P522L	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	533					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGTGTGTCTCCGAGCCAGCCC	0.542000													35	51					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142476634	142476634	+	RNA	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:142476634G>A	ENST00000430863.1	-	0	2432					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		AGCACAGGCGGAGGCGGATGG	0.667000													12	22					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325238	57325238	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:57325238C>T	ENST00000326441.9	-	10	4935	c.4572G>A	c.(4570-4572)ctG>ctA	p.L1524L	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.L1524L|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Silent_p.L1400L|PEG3_ENST00000593695.1_Silent_p.L1398L|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1524					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATGAGTTTTCAGGTGTTCAC	0.478000													51	80					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166868757	166868757	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:166868757C>T	ENST00000423058.2	-	19	3758	c.3741G>A	c.(3739-3741)acG>acA	p.T1247T	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.T1236T|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.T1247T|SCN1A_ENST00000409050.1_Silent_p.T1219T	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1247						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCGTCTTAATCGTCTTTCGCT	0.294000													22	23					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074280	9074280	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:9074280G>A	ENST00000397910.4	-	3	13369	c.13166C>T	c.(13165-13167)aCc>aTc	p.T4389I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4391	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCTGTTTGGGTGGTGATGGT	0.468000													44	55					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5923268	5923268	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:5923268T>C	ENST00000399933.3	-	8	2727	c.2728A>G	c.(2728-2730)Agc>Ggc	p.S910G	KIAA2026_ENST00000381461.2_Missense_Mutation_p.S880G	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	910										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AACAGCTTGCTTCTAGCCATA	0.328000													28	3					0	0	1	0	0
GLTSCR1L	23506	broad.mit.edu	37	6	42832438	42832438	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:42832438A>G	ENST00000314073.5	+	13	2670	c.2494A>G	c.(2494-2496)Aaa>Gaa	p.K832E	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.K832E					GLTSCR1-like																		CAAACTTGATAAAGCTGCTCA	0.498000													44	63					0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127464290	127464290	+	Missense_Mutation	SNP	G	G	C	rs147007817	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:127464290G>C	ENST00000368808.3	-	1	100	c.101C>G	c.(100-102)tCg>tGg	p.S34W		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	34					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCCAGGTCCGAGCGGTCCCG	0.672000													19	25					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33357275	33357275	+	Splice_Site	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:33357275G>A	ENST00000334528.9	-	2	1374	c.1374_splice	c.e2-1	p.P459_splice	FMN1_ENST00000559150.1_5'UTR|FMN1_ENST00000559047.1_Splice_Site_p.P682_splice|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Splice_Site_p.P459_splice	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	682	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGTGGTCAGGCTGTTGAAAG	0.443000													35	52					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100221563	100221563	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:100221563G>A	ENST00000524871.1	+	24	3451	c.3161G>A	c.(3160-3162)gGa>gAa	p.G1054E	CNTN5_ENST00000528682.1_Missense_Mutation_p.G1054E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G1054E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G980E|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1054	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGAGGAGATGGAACAGCTAGT	0.383000													28	35					0	0	1	0	0
TMEM213	155006	broad.mit.edu	37	7	138487772	138487772	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:138487772G>A	ENST00000442682.2	+	3	435	c.282G>A	c.(280-282)ctG>ctA	p.L94L	TMEM213_ENST00000458494.1_Silent_p.L70L|TMEM213_ENST00000397602.3_Silent_p.L93L|TMEM213_ENST00000422794.2_Silent_p.L144L|TMEM213_ENST00000413208.1_Intron	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	94						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						TGGACAAACTGATGAAGCTGA	0.582000													11	17					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49232749	49232749	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:49232749G>A	ENST00000222145.4	-	5	1482	c.1278C>T	c.(1276-1278)acC>acT	p.T426T		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	426					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGTTGAGGAAGGTGTCCACAT	0.692000													3	5					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14507996	14507996	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:14507996C>T	ENST00000242786.5	+	6	666	c.586C>T	c.(586-588)Ccg>Tcg	p.P196S	CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Intron|CD97_ENST00000587728.1_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	196	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCAACCGATTCCGGGGTCCCC	0.587000													59	71					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694346	49694346	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:49694346G>A	ENST00000296452.4	+	5	7471	c.7357G>A	c.(7357-7359)Gag>Aag	p.E2453K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2453					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		tctgcagctggagcagatcca	0.622000													7	6					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74672778	74672778	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:74672778A>T	ENST00000253159.8	+	30	5578	c.5380A>T	c.(5380-5382)Aag>Tag	p.K1794*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.K1796*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1794					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGCAACATGAAGCTGCACAT	0.602000													40	5					0	0	1	0	0
GPR87	53836	broad.mit.edu	37	3	151012015	151012015	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:151012015G>A	ENST00000260843.4	-	3	1483	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	340						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTTTGCAGTGATCTGATGCT	0.353000													75	89					0	0	1	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189602	11189602	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:11189602C>T	ENST00000382435.4	+	1	1206	c.987C>T	c.(985-987)agC>agT	p.S329S		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	329						integral to membrane											GGAACCTCAGCTGTGAGAGGA	0.512000													27	41					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63538926	63538926	+	Nonstop_Mutation	SNP	A	A	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:63538926A>T	ENST00000550760.3	+	4	1678	c.1499A>T	c.(1498-1500)tAa>tTa	p.*500L		NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						AACATAAGGTAATTCATACTG	0.378000													7	9					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48821391	48821391	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:48821391C>T	ENST00000371847.3	-	11	1309	c.1145G>A	c.(1144-1146)cGg>cAg	p.R382Q	SPATA6_ENST00000396199.3_Missense_Mutation_p.R310Q|SPATA6_ENST00000371843.3_Splice_Site_p.R382_splice	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	382					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATTTTTTACCCGGTCATGGAT	0.294000													12	49					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840604	142840604	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:142840604C>T	ENST00000309575.3	+	2	2330	c.946C>T	c.(946-948)Cca>Tca	p.P316S		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	316					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GGTCTTGGCGCCACTGCTGCG	0.667000													11	9					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154561920	154561920	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:154561920C>T	ENST00000368474.4	-	9	2886	c.2687G>A	c.(2686-2688)gGa>gAa	p.G896E	ADAR_ENST00000368471.3_Missense_Mutation_p.G601E|ADAR_ENST00000292205.5_Missense_Mutation_p.G939E	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	896	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAGAGAATCTCCTTTCACACA	0.453000													23	33					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906676	164906676	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:164906676C>T	ENST00000475390.1	-	2	2386	c.1943G>A	c.(1942-1944)gGg>gAg	p.G648E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G648E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	648						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CACAGGGCCCCCAGGAGGAGA	0.542000										HNSCC(40;0.11)			14	21					0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	841257	841257	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:841257C>T	ENST00000317063.6	+	9	1576	c.1576C>T	c.(1576-1578)Ccg>Tcg	p.P526S	CHTF18_ENST00000455171.2_Missense_Mutation_p.P359S|CHTF18_ENST00000491530.1_3'UTR|CHTF18_ENST00000262315.9_Missense_Mutation_p.P331S			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	331					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CAGTGTTGAGCCGGCCCGGGT	0.657000													4	10					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576247	33576247	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:33576247G>A	ENST00000504830.1	-	19	4219	c.3884C>T	c.(3883-3885)aCt>aTt	p.T1295I	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1210I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1295	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AAAGCCCTCAGTAATCAGACT	0.473000										HNSCC(64;0.19)			95	110					0	0	1	0	0
SASH3	54440	broad.mit.edu	37	X	128926351	128926351	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:128926351G>A	ENST00000356892.3	+	5	604	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	164										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						CTTCGGGGAGGAACCACCTGC	0.627000													65	8					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49232750	49232750	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:49232750G>A	ENST00000222145.4	-	5	1481	c.1277C>T	c.(1276-1278)aCc>aTc	p.T426I		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	426					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GTTGAGGAAGGTGTCCACATA	0.692000													3	5					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669557	158669557	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:158669557T>C	ENST00000359610.2	-	1	929	c.886A>G	c.(886-888)Aaa>Gaa	p.K296E		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TTTATTTCTTTATTCCTCAGG	0.388000													29	38					0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89652762	89652762	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:89652762G>A	ENST00000355754.6	-	9	1531	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	478						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GTGACTGCAGGAAGTTCTGGA	0.507000													29	42					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404268	20404268	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:20404268C>T	ENST00000285600.4	+	1	502	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGTCTATTTCCTGGGCGGTG	0.453000													34	160					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193061834	193061834	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:193061834C>T	ENST00000342358.4	-	9	942	c.825G>A	c.(823-825)gaG>gaA	p.E275E		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	275					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGGATTCCAGCTCCTCCAAAC	0.418000													21	16					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768690	31768690	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:31768690C>T	ENST00000240587.4	-	2	2336	c.2009G>A	c.(2008-2010)aGc>aAc	p.S670N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	670					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGGCTGGGGCTGTTCTCCTG	0.662000													19	23					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108813861	108813861	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:108813861C>T	ENST00000232603.5	-	7	560	c.478G>A	c.(478-480)Gat>Aat	p.D160N	MORC1_ENST00000483760.1_Missense_Mutation_p.D160N	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	160					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCTGGGGATCATCTGTGACA	0.313000													13	19					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174652663	174652663	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:174652663T>C	ENST00000251507.4	+	15	2002	c.1828T>C	c.(1828-1830)Tac>Cac	p.Y610H		NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	610	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TCTCTAGGCCTACTCTGTGTA	0.403000													32	48					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086197	92086197	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:92086197G>A	ENST00000298047.6	+	1	936	c.919G>A	c.(919-921)Gat>Aat	p.D307N	FAT3_ENST00000525166.1_Missense_Mutation_p.D157N|FAT3_ENST00000409404.2_Missense_Mutation_p.D307N|FAT3_ENST00000541502.1_Missense_Mutation_p.D307N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	307	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGGCTGGGGATCCTTTAGA	0.448000										TCGA Ovarian(4;0.039)			28	30					0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40778455	40778455	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:40778455C>T	ENST00000358268.2	-	10	1894	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K	LCA5L_ENST00000495240.1_5'UTR|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.E456K|LCA5L_ENST00000380671.2_Missense_Mutation_p.E456K			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	456										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTTTTCTTTTCTTGGTCTTCT	0.318000													30	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611813	179611813	+	Missense_Mutation	SNP	C	C	T	rs146359866		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:179611813C>T	ENST00000360870.5	-	46	15536	c.15314G>A	c.(15313-15315)cGa>cAa	p.R5105Q	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1213	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R5105Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGGAATATCGCTCTAGAGT	0.488000													51	49					0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135083964	135083964	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:135083964C>T	ENST00000445355.3	-	16	1735	c.1685G>A	c.(1684-1686)gGg>gAg	p.G562E	ADAM8_ENST00000415217.3_Missense_Mutation_p.G562E|ADAM8_ENST00000485491.2_Missense_Mutation_p.G523E	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	523					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GATGGCACGCCCCAGGGGCTG	0.652000													26	37					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870209	151870209	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:151870209C>T	ENST00000329342.5	+	3	1124	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	300	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGCATTTCCTACCCACTC	0.562000													81	8					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4171979	4171979	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:4171979C>T	ENST00000404826.2	+	28	4291	c.4152C>T	c.(4150-4152)ctC>ctT	p.L1384L	SDK1_ENST00000389531.3_Silent_p.L1384L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1384	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGTGAGGCTCGTGTTCCCCG	0.607000													6	13					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872554	213872554	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:213872554C>T	ENST00000457361.1	-	8	1279	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	IKZF2_ENST00000342002.2_Missense_Mutation_p.E377K|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.E299K|IKZF2_ENST00000421754.2_Missense_Mutation_p.E297K|IKZF2_ENST00000434687.1_Missense_Mutation_p.E371K|IKZF2_ENST00000374327.4_Missense_Mutation_p.E226K|IKZF2_ENST00000374319.4_Missense_Mutation_p.E345K	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCAGCAGTTTCCCTGCTAATG	0.498000													42	42					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57095270	57095270	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:57095270C>G	ENST00000278412.2	-	14	1964	c.1698G>C	c.(1696-1698)aaG>aaC	p.K566N	RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	566					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GATGGTCTGACTTGATCTTCT	0.522000													58	67					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102515815	102515815	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:102515815G>T	ENST00000360184.4	+	75	13575	c.13411G>T	c.(13411-13413)Gcc>Tcc	p.A4471S	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4471					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACGGTGCCTGCCGGCATGAC	0.607000													28	6					3.73988e-18	3.79348e-18	1	1	0
CATSPER3	347732	broad.mit.edu	37	5	134343808	134343808	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:134343808C>T	ENST00000282611.6	+	4	740	c.654C>T	c.(652-654)ttC>ttT	p.F218F		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	218					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGCTTTTTTCACCCTCTTCA	0.542000													32	33					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42821111	42821111	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:42821111C>T	ENST00000398600.2	+	16	2346	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	MX1_ENST00000455164.2_Missense_Mutation_p.R441C|MX1_ENST00000288383.6_Missense_Mutation_p.R418C|MX1_ENST00000398598.3_Missense_Mutation_p.R441C	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	441					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AAATCAGTATCGTGGTAGAGA	0.373000													31	36					0	0	1	0	0
SGCG	6445	broad.mit.edu	37	13	23853608	23853608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:23853608C>T	ENST00000218867.3	+	5	620	c.496C>T	c.(496-498)Cga>Tga	p.R166*	SGCG_ENST00000545013.1_Nonsense_Mutation_p.R166*|SGCG_ENST00000537476.1_Nonsense_Mutation_p.R166*	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	166					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGATAAACTTCGAGTAACTGG	0.388000													10	18					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223060	25223060	+	Missense_Mutation	SNP	C	C	T	rs71461576		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:25223060C>T	ENST00000444203.2	+	6	1607	c.568C>T	c.(568-570)Cca>Tca	p.P190S	SNRPN_ENST00000390687.4_Missense_Mutation_p.P186S|SNRPN_ENST00000554227.2_Missense_Mutation_p.P190S|SNRPN_ENST00000400097.1_Missense_Mutation_p.P186S|SNRPN_ENST00000400098.1_Missense_Mutation_p.P186S|SNRPN_ENST00000400100.1_Missense_Mutation_p.P186S|SNRPN_ENST00000346403.6_Missense_Mutation_p.P186S|SNRPN_ENST00000577565.1_Missense_Mutation_p.P186S|SNURF_ENST00000338094.6_3'UTR			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	186	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AACCCCACCTCCAGGTAAGGG	0.547000									Prader-Willi syndrome				13	4					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076754	87076754	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:87076754C>T	ENST00000276616.2	-	2	366	c.292G>A	c.(292-294)Gag>Aag	p.E98K	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	98	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCTTCCCTCTCTCTGGTTTCC	0.502000													43	45					0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9009479	9009479	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:9009479C>T	ENST00000377443.2	+	2	241	c.237C>T	c.(235-237)ccC>ccT	p.P79P	CA6_ENST00000377436.3_Silent_p.P79P|CA6_ENST00000319474.2_Silent_p.P79P|CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	79					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGTTCCCCATGGTCAACA	0.592000													21	20					0	0	1	0	0
TPST1	8460	broad.mit.edu	37	7	65705773	65705773	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:65705773A>G	ENST00000304842.5	+	2	786	c.361A>G	c.(361-363)Aag>Gag	p.K121E	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	121					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AAGTAAAGAGAAGATCCGCCT	0.527000													34	37					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54785944	54785944	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:54785944C>T	ENST00000333896.5	+	1	414	c.29C>T	c.(28-30)tCc>tTc	p.S10F	SPTBN1_ENST00000356805.4_Intron	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	0	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCTAGTATCTCCGGGCCGCTG	0.617000													59	71					0	0	1	0	0
SRSF1	6426	broad.mit.edu	37	17	56082949	56082949	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:56082949A>G	ENST00000258962.4	-	4	773	c.565T>C	c.(565-567)Tac>Cac	p.Y189H	SRSF1_ENST00000584773.1_Missense_Mutation_p.Y189H|SRSF1_ENST00000582730.2_3'UTR|SRSF1_ENST00000585096.1_Intron	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	189	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCCGGATGTAGGCAGTTTCT	0.433000													61	5					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13214462	13214462	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:13214462C>T	ENST00000378694.1	+	3	511	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	MCM10_ENST00000484800.2_Missense_Mutation_p.R146C|MCM10_ENST00000378714.3_Missense_Mutation_p.R146C			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	146					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAGCCCAGCCCGTCTGCAAAA	0.393000													33	62					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50936966	50936966	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:50936966C>T	ENST00000442544.2	+	20	3696	c.3080C>T	c.(3079-3081)tCa>tTa	p.S1027L	DCC_ENST00000581580.1_Missense_Mutation_p.S662L|DCC_ENST00000412726.1_Missense_Mutation_p.S855L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1027	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCACGAAATTCAAAAGGAGTG	0.378000													44	59					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141799479	141799479	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:141799479C>T	ENST00000475668.2	+	67	7870	c.7816C>T	c.(7816-7818)Cat>Tat	p.H2606Y	MGAM_ENST00000549489.2_Missense_Mutation_p.H1710Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1710					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATTAATCTTCATGTCCGTGG	0.498000													29	36					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55655605	55655605	+	Missense_Mutation	SNP	G	G	A	rs146327492		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:55655605G>A	ENST00000449290.2	+	4	697	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	TRIM51_ENST00000244891.3_Missense_Mutation_p.R59Q	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	202						intracellular	zinc ion binding										GAAAGGCTGCGAAAGGAGGGC	0.428000													24	43					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85564255	85564255	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:85564255G>A	ENST00000295887.5	+	11	1534	c.1111G>A	c.(1111-1113)Ggc>Agc	p.G371S		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	371					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CCCATTTGGAGGCTTCTTTGC	0.383000													78	91					0	0	1	0	0
CSDC2	27254	broad.mit.edu	37	22	41969756	41969756	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:41969756G>A	ENST00000306149.7	+	3	818	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	92	CSD.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding			prostate(2)|upper_aerodigestive_tract(1)	3						GAACGGGTCCGAGGACATCTT	0.607000													37	45					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154295826	154295826	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:154295826C>T	ENST00000484864.1	+	4	516	c.480C>T	c.(478-480)ttC>ttT	p.F160F	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Silent_p.F160F			Q96PS8	AQP10_HUMAN	aquaporin 10	160					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACAATGGCTTCCTGGATCAGG	0.552000													49	76					0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135083963	135083963	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:135083963C>T	ENST00000445355.3	-	16	1736	c.1686G>A	c.(1684-1686)ggG>ggA	p.G562G	ADAM8_ENST00000415217.3_Silent_p.G562G|ADAM8_ENST00000485491.2_Silent_p.G523G	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	523					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGATGGCACGCCCCAGGGGCT	0.652000													25	36					0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170033160	170033160	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:170033160G>A	ENST00000333572.6	-	21	2625	c.2106C>T	c.(2104-2106)atC>atT	p.I702I	WDR27_ENST00000448612.1_Silent_p.I702I|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Silent_p.I575I			A2RRH5	WDR27_HUMAN	WD repeat domain 27	672										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTGCGAGTACGATGTCTGCGA	0.522000													5	9					0	0	1	0	0
OTC	5009	broad.mit.edu	37	X	38262970	38262970	+	Missense_Mutation	SNP	C	C	A	rs72558420		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:38262970C>A	ENST00000039007.4	+	6	792	c.640C>A	c.(640-642)Cac>Aac	p.H214N	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	214			H -> Y (in OTCD; neonatal).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	ATTCGGAATGCACCTTCAGGC	0.463000													32	0					7.11191e-15	7.19093e-15	1	1	0
CST8	10047	broad.mit.edu	37	20	23472436	23472436	+	Silent	SNP	C	C	T	rs150145986		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:23472436C>T	ENST00000246012.1	+	2	489	c.132C>T	c.(130-132)aaC>aaT	p.N44N		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	44						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CAAATGCCAACGTGAAGCAGT	0.507000													52	70					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21350144	21350144	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:21350144C>T	ENST00000215739.8	+	17	2411	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.I665I	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	684	BTB 2.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACAAGGCTATCCTGGCCGCCC	0.647000													34	36					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72397152	72397152	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:72397152G>A	ENST00000359373.5	-	33	5088	c.4237C>T	c.(4237-4239)Ccc>Tcc	p.P1413S	ARAP1_ENST00000429686.1_Missense_Mutation_p.P1107S|ARAP1_ENST00000393605.3_Missense_Mutation_p.P1184S|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.P1179S|ARAP1_ENST00000426523.1_Missense_Mutation_p.P1168S|ARAP1_ENST00000393609.3_Missense_Mutation_p.P1424S|ARAP1_ENST00000455638.2_Missense_Mutation_p.P1413S			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1424					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCTCGAAGGGGGATCAGTGAC	0.642000													26	27					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17895689	17895689	+	Silent	SNP	G	G	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:17895689G>T	ENST00000594202.1	+	26	2661	c.2382G>T	c.(2380-2382)gtG>gtT	p.V794V	FCHO1_ENST00000539407.1_Silent_p.V794V|FCHO1_ENST00000597512.1_Silent_p.V801V|FCHO1_ENST00000595033.1_Silent_p.V744V|FCHO1_ENST00000596536.1_Silent_p.V794V|FCHO1_ENST00000252771.7_Silent_p.V794V|FCHO1_ENST00000596951.1_Silent_p.V794V|FCHO1_ENST00000600676.1_Silent_p.V794V|FCHO1_ENST00000389133.4_Silent_p.V794V	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	794										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGCTGCCTGTGGGGGAGCCTG	0.652000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	62					6.05902e-23	6.16549e-23	1	1	0
CA1	759	broad.mit.edu	37	8	86250533	86250533	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:86250533G>A	ENST00000523953.1	-	4	1229	c.183C>T	c.(181-183)atC>atT	p.I61I	CA1_ENST00000523022.1_Silent_p.I61I|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000542576.1_Silent_p.I61I|CA1_ENST00000431316.1_Silent_p.I61I|CA1_ENST00000256119.5_Silent_p.I61I|CA1_ENST00000432364.2_Silent_p.I61I|CA1_ENST00000522389.1_Intron			P00915	CAH1_HUMAN	carbonic anhydrase I	61					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCCCACATTGATAATTTCTT	0.418000													86	92					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993112	28993112	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:28993112G>A	ENST00000359747.4	+	15	2763	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	DSG4_ENST00000308128.4_Missense_Mutation_p.E893K|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	893					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTCCAAGAAGAAATGGCAGC	0.423000													67	106					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621822	7621822	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:7621822G>A	ENST00000256861.6	-	9	1392	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	ITIH5_ENST00000397146.2_Silent_p.I438I|ITIH5_ENST00000298441.6_Silent_p.I224I|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Silent_p.I220I|ITIH5_ENST00000397145.2_Silent_p.I438I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	438	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGTCGTTGCCGATGCCAATGG	0.632000													50	51					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37707467	37707467	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:37707467C>T	ENST00000539465.1	+	3	749	c.156C>T	c.(154-156)atC>atT	p.I52I	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.I52I			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	52						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGACCCTCATCCCTGTGCGAC	0.498000													41	7					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3675435	3675435	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:3675435G>A	ENST00000344754.4	-	11	2818	c.2819C>T	c.(2818-2820)tCg>tTg	p.S940L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S940L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	940	Ig-like C2-type 9.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCCGAGGTCGACTCCTGGAG	0.622000													27	34					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101750	168101750	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:168101750C>T	ENST00000409195.1	+	9	3937	c.3848C>T	c.(3847-3849)tCt>tTt	p.S1283F	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1283F|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1061F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1108					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGACTTTTTCTTTAGATGAG	0.353000													31	61					0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145542017	145542017	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:145542017G>A	ENST00000332324.4	-	7	856	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	DGAT1_ENST00000531896.1_Silent_p.L195L	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	195					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCGCCAGCAGGGAGCCCACT	0.677000													9	15					0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3640009	3640009	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:3640009C>T	ENST00000378295.4	+	6	863	c.708C>T	c.(706-708)gtC>gtT	p.V236V	TP73_ENST00000604479.1_Silent_p.V236V|TP73_ENST00000604074.1_Silent_p.V236V|TP73_ENST00000357733.3_Silent_p.V236V|TP73_ENST00000378285.1_Silent_p.V187V|TP73_ENST00000346387.4_Silent_p.V236V|TP73_ENST00000603362.1_Silent_p.V236V|TP73_ENST00000378280.1_Silent_p.V187V|TP73_ENST00000378288.4_Silent_p.V187V|TP73_ENST00000378290.4_Silent_p.V165V|TP73_ENST00000354437.4_Silent_p.V236V	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	236	DNA-binding (Potential).				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GGCAGAGCGTCGTGGTGCCCT	0.657000													13	18					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12939545	12939545	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:12939545C>T	ENST00000218032.6	+	2	2473	c.2386C>T	c.(2386-2388)Ccc>Tcc	p.P796S	TLR8_ENST00000311912.5_Missense_Mutation_p.P814S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	796	LRRCT.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.P814T(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTCAAAATTCCCAGACTGGT	0.433000													69	7					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105349419	105349419	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:105349419C>G	ENST00000453495.1	+	8	856	c.628C>G	c.(628-630)Cgc>Ggc	p.R210G	CEP170B_ENST00000414716.3_Missense_Mutation_p.R209G|CEP170B_ENST00000556508.1_Missense_Mutation_p.R139G|CEP170B_ENST00000418279.1_Missense_Mutation_p.R139G					centrosomal protein 170B																		CCACGGCTTCCGCGCCCCTGC	0.687000													5	8					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27346345	27346345	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:27346345G>A	ENST00000429845.2	-	13	1283	c.921C>T	c.(919-921)ctC>ctT	p.L307L	NEK10_ENST00000341435.5_Silent_p.L307L			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	307							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGCTCCAGAGGAGCTTCAAGT	0.522000													32	42					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481936	140481936	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:140481936G>A	ENST00000231130.2	+	1	1703	c.1703G>A	c.(1702-1704)gGc>gAc	p.G568D		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		568	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCAGAACGGCTCCGCGCCC	0.716000													40	63					0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189706783	189706783	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:189706783C>T	ENST00000319332.5	-	4	1065	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E109K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	290					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTGGCAAGTTCCCTCACACAT	0.507000													20	39					0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74641751	74641751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:74641751G>A	ENST00000541184.1	-	8	1261	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000373367.3_Nonsense_Mutation_p.Q271*	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	271						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AACACCTGCTGGATATTCTTG	0.453000													24	2					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685704	248685704	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:248685704G>A	ENST00000343414.4	+	1	789	c.757G>A	c.(757-759)Ggg>Agg	p.G253R		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATTTTCTATGGGACCATCAT	0.438000													44	68					0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39412102	39412102	+	Silent	SNP	C	C	T	rs7501803		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:39412102C>T	ENST00000394008.1	+	1	467	c.465C>T	c.(463-465)ttC>ttT	p.F155F		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	155						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACTTGCTTCCAGCCCACCT	0.592000													80	16					0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74058272	74058272	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:74058272G>A	ENST00000298198.4	-	7	1171	c.860C>T	c.(859-861)cCa>cTa	p.P287L		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	287					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTCTGGTACTGGAATTGGAGG	0.378000													24	27					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11995636	11995636	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:11995636C>T	ENST00000333796.3	-	1	950	c.634G>A	c.(634-636)Ggg>Agg	p.G212R	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	212					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCTGAAATCCCGTGGCAGTGG	0.512000													8	19					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913594	6913594	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:6913594G>A	ENST00000299459.2	-	1	236	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAACAAGGGAGATTAGAAGCA	0.463000													30	5					0	0	1	0	0
IGFL4	444882	broad.mit.edu	37	19	46543783	46543783	+	Silent	SNP	T	T	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:46543783T>G	ENST00000377697.1	-	2	116	c.63A>C	c.(61-63)ggA>ggC	p.G21G	IGFL4_ENST00000601672.1_5'UTR|IGFL4_ENST00000595006.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	21						extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CACCTGTGACTCCTTCTGAGT	0.527000													38	44					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77657042	77657042	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:77657042C>T	ENST00000461745.1	+	21	4130	c.3230C>T	c.(3229-3231)cCc>cTc	p.P1077L	ROBO2_ENST00000332191.8_Missense_Mutation_p.P1077L|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1093L|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1077					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTACCTCCCCCCCCAGTCCAG	0.453000													25	21					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50566849	50566849	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:50566849C>T	ENST00000444124.2	-	8	1073	c.873G>A	c.(871-873)gtG>gtA	p.V291V	DDC_ENST00000357936.5_Silent_p.V291V|DDC_ENST00000380984.4_Silent_p.V291V|DDC_ENST00000431062.1_Silent_p.V198V|DDC_ENST00000426377.1_Silent_p.V213V	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	291					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CACCTACCTCCACTCCATTCA	0.522000													17	24					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43271917	43271917	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:43271917C>T	ENST00000372585.5	+	10	1622	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	SLC22A7_ENST00000372574.3_Silent_p.A507A|SLC22A7_ENST00000372589.3_Silent_p.A507A	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	509						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CCGGCACCGCCCTCCTGCTGC	0.627000													40	41					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57189301	57189301	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:57189301C>T	ENST00000343433.6	-	17	2014	c.1934G>A	c.(1933-1935)aGa>aAa	p.R645K		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	645								p.R645K(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTTTTCATTCTGTTCTTTTC	0.308000													8	11					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246910	56246910	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:56246910G>A	ENST00000361673.3	-	4	1311	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	366							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AATGCTCACCGAATTCCATCT	0.512000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	54					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959698	16959698	+	RNA	SNP	G	G	A	rs9730434	by1000genomes	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:16959698G>A	ENST00000412962.1	-	0	74																		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657000													8	34					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98778392	98778392	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:98778392C>T	ENST00000266058.4	-	28	3165	c.2920G>A	c.(2920-2922)Gaa>Aaa	p.E974K	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E974K	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	974	EGF-like 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCCCCATTTTCACAGGGGCCA	0.627000													5	6					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141315071	141315071	+	Missense_Mutation	SNP	T	T	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:141315071T>G	ENST00000325617.5	-	11	1714	c.1274A>C	c.(1273-1275)gAt>gCt	p.D425A	CLGN_ENST00000537281.1_Missense_Mutation_p.D425A|CLGN_ENST00000414773.1_Missense_Mutation_p.D425A	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	425					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AATAAAATTATCAAAGTAGAT	0.373000													18	34					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32351582	32351582	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:32351582C>T	ENST00000298386.2	+	8	782	c.711C>T	c.(709-711)ttC>ttT	p.F237F	RXFP2_ENST00000380314.1_Silent_p.F237F	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	237						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CCTTGTTTTTCCTGTAAGTAT	0.323000													15	5					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110835351	110835351	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:110835351G>A	ENST00000375820.4	-	28	2205	c.2084C>T	c.(2083-2085)cCc>cTc	p.P695L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	695	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TTTGGGGCCGGGGGGCCCTGG	0.612000													10	0					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85407407	85407407	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:85407407C>T	ENST00000359152.5	-	11	5015	c.5016G>A	c.(5014-5016)agG>agA	p.R1672R	SYTL2_ENST00000529581.1_Silent_p.R268R|SYTL2_ENST00000316356.4_Silent_p.R827R|SYTL2_ENST00000528231.1_Silent_p.R826R|SYTL2_ENST00000389958.3_Silent_p.R257R|SYTL2_ENST00000525702.1_Silent_p.R268R|SYTL2_ENST00000525423.1_Silent_p.R1148R|SYTL2_ENST00000354566.3_Silent_p.R1164R|SYTL2_ENST00000389960.4_Silent_p.R802R|SYTL2_ENST00000533892.1_Silent_p.R228R|SYTL2_ENST00000527523.1_Silent_p.R794R|SYTL2_ENST00000524452.1_Silent_p.R802R	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	826					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.R827R(1)|p.R1164R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGCGACTTTTCCTACTTGTAT	0.418000													48	56					0	0	1	0	0
RNF19B	127544	broad.mit.edu	37	1	33402652	33402652	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:33402652G>A	ENST00000373456.7	-	9	1953	c.1954C>T	c.(1954-1956)Cct>Tct	p.P652S	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.P651S	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	652						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ATGTCCCAAGGTTTGCTGGCC	0.552000													60	70					0	0	1	0	0
FNDC9	408263	broad.mit.edu	37	5	156770374	156770374	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:156770374C>T	ENST00000312349.4	-	2	358	c.171G>A	c.(169-171)acG>acA	p.T57T	CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000442283.2_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	57	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CGGAGCTGATCGTTCGAGGCA	0.522000													32	52					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112339	248112339	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:248112339C>T	ENST00000357191.3	+	1	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATGTATTTCCTACTGAGTC	0.413000													153	209					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73961533	73961533	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:73961533C>T	ENST00000476977.1	+	17	3524	c.1833C>T	c.(1831-1833)tcC>tcT	p.S611S	GTF2IRD1_ENST00000265755.3_Silent_p.S611S|GTF2IRD1_ENST00000424337.2_Silent_p.S611S|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Silent_p.S643S			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	611						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGGCATCTCCCTCCGCAGGC	0.587000													37	36					0	0	1	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513066	89513066	+	RNA	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:89513066C>T	ENST00000498435.1	-	0	223																											AGCTTAGGAACTTTCCCTGGT	0.512000													51	172					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701852	179701852	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:179701852G>A	ENST00000420890.2	-	23	4211	c.4094C>T	c.(4093-4095)tCc>tTc	p.S1365F	CCDC141_ENST00000295723.5_Missense_Mutation_p.S790F|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	790							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCATCAGAGGAAGCATGCAG	0.483000													23	29					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61493003	61493003	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:61493003C>T	ENST00000424789.2	+	23	3887	c.3883C>T	c.(3883-3885)Ctc>Ttc	p.L1295F	TANC2_ENST00000389520.4_Missense_Mutation_p.L1305F|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1295							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GTCTCTCCTCCTCAACCTCTC	0.522000													30	7					0	0	1	0	0
EAPP	55837	broad.mit.edu	37	14	35002670	35002670	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:35002670G>A	ENST00000250454.3	-	3	413	c.332C>T	c.(331-333)tCc>tTc	p.S111F		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	111					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TTCATCCTCGGAATCAGAATC	0.338000													40	49					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351517	89351517	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:89351517G>A	ENST00000301030.4	-	9	1893	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S478F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	478	Ser-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGACTCCGAGGAGCAGAACTT	0.547000													16	28					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157517341	157517341	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:157517341C>T	ENST00000346085.5	+	16	3906	c.3905C>T	c.(3904-3906)cCc>cTc	p.P1302L	ARID1B_ENST00000367148.1_Missense_Mutation_p.P1342L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1289L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1284L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1289					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGACAGATGCCCAACAGCAGC	0.493000													56	17					0	0	1	0	0
ETF1	2107	broad.mit.edu	37	5	137849282	137849282	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:137849282G>A	ENST00000499810.2	-	5	865	c.417C>T	c.(415-417)ttC>ttT	p.F139F	ETF1_ENST00000360541.5_Silent_p.F172F|ETF1_ENST00000503014.1_Silent_p.F158F			P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	172					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GATCCACAGTGAATTTGTGCA	0.433000													56	78					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35547211	35547211	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:35547211C>T	ENST00000455600.1	+	2	1262	c.693C>T	c.(691-693)ctC>ctT	p.L231L	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	231						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AATGGAAGCTCAGTTCAGATG	0.592000													36	7					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9538850	9538850	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:9538850G>A	ENST00000352665.5	+	11	1518	c.1449G>A	c.(1447-1449)ggG>ggA	p.G483G	WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000396219.3_Silent_p.G415G|WDR16_ENST00000299764.5_Silent_p.G493G	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	483						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GCACCGATGGGACTTGTATCA	0.502000													23	6					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177226461	177226461	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:177226461G>A	ENST00000361539.4	+	4	922	c.610G>A	c.(610-612)Gac>Aac	p.D204N	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		204						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTACTTCATCGACAGAGAGAG	0.597000													23	15					0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724853	138724853	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:138724853C>T	ENST00000383163.2	-	1	257	c.258G>A	c.(256-258)tcG>tcA	p.S86S	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	86										endometrium(3)|kidney(1)|lung(7)	11						CTCGCAGGATCGACGTTGGCG	0.662000													6	15					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142506592	142506592	+	RNA	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:142506592G>A	ENST00000430863.1	-	0	170					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5									p.P30P(1)									TGGAGACAGGGGGGGAGATTC	0.557000													25	22					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133748	22133748	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:22133748G>A	ENST00000408935.1	+	1	452	c.452G>A	c.(451-453)gGg>gAg	p.G151E		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTCTGGTTGGGGGGTACTGTT	0.483000													75	71					0	0	1	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474476	145474476	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:145474476C>T	ENST00000323397.4	+	4	2441	c.1148C>T	c.(1147-1149)tCc>tTc	p.S383F		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	383	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCGCGCCAGTCCCAGGAGAGT	0.711000													9	15					0	0	1	0	0
ZNF812	729648	broad.mit.edu	37	19	9801781	9801781	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:9801781C>T	ENST00000457674.2	-	5	916	c.398G>A	c.(397-399)gGa>gAa	p.G133E	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	133	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						AAGTTCCTGTCCAATAGAGGC	0.408000													28	25					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72967929	72967929	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:72967929C>T	ENST00000264839.7	+	17	2872	c.2872C>T	c.(2872-2874)Cgc>Tgc	p.R958C	RIMS1_ENST00000521978.1_Missense_Mutation_p.R958C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R957C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R958C|RIMS1_ENST00000517960.1_Missense_Mutation_p.R957C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R431C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R351C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R957C|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.R432C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R957C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R417C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R958C			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	958					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATCTCCTCATCGCGGCAATGA	0.448000													13	15					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266829	107266829	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:107266829G>A	ENST00000334726.2	+	1	375	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCATTCTCAGGGTGCGCCAC	0.527000													11	5					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51189601	51189601	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:51189601C>T	ENST00000293441.1	-	20	2488	c.2470G>A	c.(2470-2472)Gaa>Aaa	p.E824K	SHANK1_ENST00000391814.1_Missense_Mutation_p.E832K|SHANK1_ENST00000391813.1_Missense_Mutation_p.E211K|SHANK1_ENST00000359082.3_Missense_Mutation_p.E815K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	824					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCCAGGATTTCGTCCAGTTTG	0.567000													31	31					0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773193	145773193	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:145773193G>A	ENST00000276826.5	-	4	1478	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.S426L|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.S426L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	426					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CAAGGAGTACGAACCACCGCC	0.701000													5	4					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108489172	108489172	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:108489172G>A	ENST00000408999.3	+	20	4789	c.4712G>A	c.(4711-4713)gGa>gAa	p.G1571E	RGPD4_ENST00000354986.4_Missense_Mutation_p.G1571E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1571					intracellular transport		binding	p.G1571A(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTTTGTTTGGATTTAGTTTT	0.348000													150	158					0	0	1	0	0
ARGLU1	55082	broad.mit.edu	37	13	107211953	107211953	+	Missense_Mutation	SNP	C	C	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:107211953C>G	ENST00000400198.3	-	2	644	c.400G>C	c.(400-402)Gta>Cta	p.V134L	ARGLU1_ENST00000375926.1_5'UTR	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	134	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AATTCTTCTACTCTTCGTGCT	0.393000													50	33					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27456005	27456005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:27456005G>A	ENST00000337929.3	+	6	1123	c.650G>A	c.(649-651)tGg>tAg	p.W217*	IL21R_ENST00000564089.1_Nonsense_Mutation_p.W217*|IL21R_ENST00000395755.1_Nonsense_Mutation_p.W217*|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395754.4_Nonsense_Mutation_p.W217*	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	217					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGGAGTGAATGGAGTGACCCG	0.592000			T	BCL6	NHL								28	36					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6068451	6068451	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:6068451C>T	ENST00000217289.4	-	11	2132	c.1344G>A	c.(1342-1344)atG>atA	p.M448I	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.M191I	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	448	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ACATTTCATTCATACCATCGG	0.393000													44	58					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621867	7621867	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:7621867G>A	ENST00000256861.6	-	9	1347	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	ITIH5_ENST00000397146.2_Silent_p.T423T|ITIH5_ENST00000298441.6_Silent_p.T209T|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Silent_p.T205T|ITIH5_ENST00000397145.2_Silent_p.T423T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	423	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CGGCCTCTCGGGTGTTGTTGA	0.607000													32	37					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156347514	156347514	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:156347514C>T	ENST00000274532.2	-	8	1069	c.1012_splice	c.e8-1	p.G338_splice	TIMD4_ENST00000407087.3_Splice_Site_p.G310_splice|TIMD4_ENST00000406964.1_Splice_Site_p.G40_splice	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	338						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGAGTTTCCCTGAAAAGAC	0.453000													13	30					0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465742	24465742	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:24465742C>T	ENST00000382137.3	-	3	756	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.E230K	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	230	C1q.					collagen		p.E230K(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TGGTTGAATTCATTATACAGG	0.428000													6	105					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873409	55873409	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:55873409G>A	ENST00000313503.1	+	1	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACAAAGAGGTGAAAAATGCTG	0.373000										HNSCC(53;0.14)			49	55					0	0	1	0	0
T	6862	broad.mit.edu	37	6	166576055	166576055	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:166576055G>A	ENST00000296946.2	-	7	1252	c.784C>T	c.(784-786)Cct>Tct	p.P262S	T_ENST00000366871.3_Intron	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	262					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CCAAACTGAGGATGAGGATTT	0.597000									Chordoma, Familial Clustering of				12	21					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355283	70355283	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:70355283C>T	ENST00000305107.6	-	3	922	c.876G>A	c.(874-876)atG>atA	p.M292I	UGT2B4_ENST00000381096.3_Missense_Mutation_p.M156I|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.M292I	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	292				EME -> KWK (in Ref. 4; AAC32272).	estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAAACTCTTCCATTTCCTGTG	0.363000													60	69					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92441597	92441597	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:92441597G>A	ENST00000267622.4	-	18	5749	c.5376C>T	c.(5374-5376)ttC>ttT	p.F1792F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1792	GRIP.				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCGGTGTGTGGAAATGACCAA	0.443000			T	PDGFRB	AML								31	7					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103301837	103301837	+	Splice_Site	SNP	G	G	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:103301837G>T	ENST00000376052.3	+	23	2968		c.e23+1		TPP2_ENST00000376065.4_Splice_Site			P29144	TPP2_HUMAN	tripeptidyl peptidase II						proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGAAAGCTGTAAGTATTAG	0.308000													16	25					6.49762e-13	6.53868e-13	1	1	0
ZDHHC17	23390	broad.mit.edu	37	12	77216280	77216280	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:77216280C>T	ENST00000426126.2	+	8	1515	c.866C>T	c.(865-867)cCg>cTg	p.P289L	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.P289L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	289					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TATGACAATCCGTCCTTCCTT	0.393000													11	13					0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123319270	123319270	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:123319270G>A	ENST00000275162.4	+	2	1683	c.348G>A	c.(346-348)agG>agA	p.R116R	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	116	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ACTATGGCAGGAAGATTCTAG	0.478000													27	47					0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661314	4661314	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:4661314C>T	ENST00000357605.2	+	1	370	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGTCTTTTCCTGATGGGCA	0.542000													3	24					0	0	1	0	0
RAB35	11021	broad.mit.edu	37	12	120534901	120534901	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:120534901G>A	ENST00000432953.2	-	2	337	c.149C>T	c.(148-150)tCc>tTc	p.S50F	RAB35_ENST00000534951.1_3'UTR|RAB35_ENST00000229340.5_3'UTR			Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	0					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		GGCGGGGGAGGAAGTGCCGAT	0.627000													12	0					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408016	50408016	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:50408016G>A	ENST00000217086.4	-	2	1117	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	SALL4_ENST00000395997.3_Missense_Mutation_p.P336S|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	336					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P336S(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGGCCTGAGGAAGCAAAGCG	0.647000													19	23					0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137284658	137284658	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:137284658G>A	ENST00000033079.3	-	17	2531	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	FAM13B_ENST00000425075.2_Missense_Mutation_p.P598S|FAM13B_ENST00000420893.2_Missense_Mutation_p.P694S	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	694					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						ATATCTTCTGGAAGACACCTC	0.358000													40	57					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38098544	38098544	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:38098544C>T	ENST00000290399.6	+	6	1281	c.668C>T	c.(667-669)aCc>aTc	p.T223I	SIM2_ENST00000430056.3_Missense_Mutation_p.T223I	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	223	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AGTGCCATCACCGAGATCAAG	0.557000													35	41					0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540382	5540382	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:5540382G>A	ENST00000382368.3	-	3	1641	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	FBXL18_ENST00000453700.3_Silent_p.I506I	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	506									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCGAGTTGCGGATGGCGGGCT	0.667000													8	9					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30122210	30122210	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:30122210C>T	ENST00000449742.2	-	7	1057	c.982G>A	c.(982-984)Gac>Aac	p.D328N	TRIM10_ENST00000376704.3_Missense_Mutation_p.D328N	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	328	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CGCTGGTGGTCCTCGGACAAG	0.542000													23	96					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233160982	233160982	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:233160982G>A	ENST00000258229.8	-	26	4749	c.4515C>T	c.(4513-4515)atC>atT	p.I1505I	PCNXL2_ENST00000344698.2_Silent_p.I157I	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1505						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGCCCTCCAGGATGTACTGGG	0.577000											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	54					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105889341	105889341	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:105889341G>A	ENST00000393359.2	-	10	2369	c.1943C>T	c.(1942-1944)tCt>tTt	p.S648F	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.S648F			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	648					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)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTATAAATCAGATTTCTGGAG	0.557000													14	26					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23634434	23634434	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:23634434G>A	ENST00000261584.4	-	9	3004	c.2852C>T	c.(2851-2853)tCt>tTt	p.S951F	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	951	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTCATCATCAGAGGAACAAAA	0.378000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					11	31					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179259069	179259069	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:179259069C>T	ENST00000190611.4	+	24	2979	c.2603C>T	c.(2602-2604)gCa>gTa	p.A868V	OSBPL6_ENST00000359685.3_Missense_Mutation_p.A832V|OSBPL6_ENST00000315022.2_Missense_Mutation_p.A872V|OSBPL6_ENST00000409045.3_Missense_Mutation_p.A837V|OSBPL6_ENST00000392505.2_Missense_Mutation_p.A893V|OSBPL6_ENST00000409631.1_Missense_Mutation_p.A832V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	868					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTAGAAGCTGCAGCATCAGAG	0.348000													65	79					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885334	39885334	+	Silent	SNP	C	C	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:39885334C>A	ENST00000260356.5	+	18	3066	c.2901C>A	c.(2899-2901)ccC>ccA	p.P967P		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	967	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTCTGGACCCCAAAGGGACAT	0.502000													35	29					8.4185e-14	8.48511e-14	1	1	0
COL2A1	1280	broad.mit.edu	37	12	48376369	48376369	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:48376369G>A	ENST00000380518.3	-	34	2381	c.2217C>T	c.(2215-2217)ccC>ccT	p.P739P	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.P670P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	739	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GAGCCCCAGGGGGGCCTGCTG	0.627000													8	1					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25339020	25339020	+	RNA	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:25339020C>T	ENST00000546682.1	+	0	1009				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TGCGATGGATCATCTTTGTCT	0.552000													6	13					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128028	117128028	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:117128028T>A	ENST00000310357.3	-	3	861	c.840A>T	c.(838-840)caA>caT	p.Q280H	GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.Q280H	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	280					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAACATGGAATTGCCTCAGAA	0.353000													43	57					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058952	9058952	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:9058952C>T	ENST00000397910.4	-	3	28697	c.28494G>A	c.(28492-28494)gaG>gaA	p.E9498E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9500	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGGCCAGACTCTCATCTGAGG	0.478000													53	85					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35630184	35630184	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:35630184G>A	ENST00000540320.1	+	7	1544	c.1010G>A	c.(1009-1011)tGg>tAg	p.W337*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.W337*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.W337*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.W337*			Q8NFP9	NBEA_HUMAN	neurobeachin	337						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TACAATCGATGGAGGAACAGT	0.308000													22	25					0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672412	108672412	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:108672412C>T	ENST00000261047.3	-	1	330	c.198G>A	c.(196-198)acG>acA	p.T66T	GUCA1C_ENST00000471108.1_Silent_p.T66T|GUCA1C_ENST00000393963.3_Silent_p.T66T	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	66	EF-hand 2.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTACCTTGTTCGTGTCAAAGG	0.333000													40	41					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675047	40675047	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:40675047C>T	ENST00000416151.2	+	1	126	c.11C>T	c.(10-12)cCc>cTc	p.P4L	KNSTRN_ENST00000448395.2_Missense_Mutation_p.P4L|KNSTRN_ENST00000249776.8_Missense_Mutation_p.P4L	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		ATGGCGGCTCCCGAAGCCCCG	0.582000													9	14					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46338455	46338455	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:46338455G>A	ENST00000245934.7	-	11	1518	c.1274C>T	c.(1273-1275)gCc>gTc	p.A425V		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	425					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGCTGGCATGGCCTCGGGTAG	0.567000													31	39					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141954930	141954930	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:141954930G>A	ENST00000552471.1	-	3	700	c.381C>T	c.(379-381)atC>atT	p.I127I	PRSS58_ENST00000547058.2_Silent_p.I127I			Q8IYP2	PRS58_HUMAN	protease, serine, 58	127	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATTTTCAGAGATAGTTTGGT	0.403000													63	95					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370225	126370225	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:126370225G>A	ENST00000394329.3	+	9	8067	c.8054G>A	c.(8053-8055)cGa>cAa	p.R2685Q	FAT4_ENST00000335110.5_Missense_Mutation_p.R983Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2685	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2685Q(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTTCCCCTCGAAAAATACTT	0.348000													63	89					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10940894	10940894	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:10940894C>T	ENST00000314646.5	+	20	2547	c.2383C>T	c.(2383-2385)Cct>Tct	p.P795S	DNM2_ENST00000389253.4_Missense_Mutation_p.P795S|DNM2_ENST00000359692.6_Missense_Mutation_p.P791S|DNM2_ENST00000355667.6_Missense_Mutation_p.P795S|DNM2_ENST00000585892.1_Missense_Mutation_p.P795S|DNM2_ENST00000408974.4_Missense_Mutation_p.P791S			P50570	DYN2_HUMAN	dynamin 2	795	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCCCCTGATTCCTGTTCCCGT	0.701000			"""F, N, Splice, Mis, O"""		ETP ALL								41	51					0	0	1	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125232330	125232330	+	RNA	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:125232330C>T	ENST00000439075.1	-	0	2415					NR_026876.1																						ATATGAATATCAATAAAACCC	0.423000													12	9					0	0	1	0	0
OR5B12	390191	broad.mit.edu	37	11	58206981	58206981	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:58206981G>A	ENST00000302572.2	-	1	665	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAATAAGTAGGAGATCAAGAT	0.413000													31	28					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573548	38573548	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:38573548C>T	ENST00000222345.6	+	3	1852	c.1343C>T	c.(1342-1344)tCc>tTc	p.S448F		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	448					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCGGGCTTCCGTGGGCTCC	0.667000													24	36					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21975472	21975472	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:21975472C>T	ENST00000382254.1	-	6	1340	c.254G>A	c.(253-255)gGa>gAa	p.G85E	CDH12_ENST00000504376.2_Missense_Mutation_p.G85E|CDH12_ENST00000522262.1_Missense_Mutation_p.G85E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	85	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGTGCCCTCTCCCTTGTCTAA	0.463000										HNSCC(59;0.17)			41	40					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28412977	28412977	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:28412977C>T	ENST00000337532.5	-	9	874	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	MPP7_ENST00000540098.1_Missense_Mutation_p.E200K|MPP7_ENST00000375732.1_Missense_Mutation_p.E200K|MPP7_ENST00000445954.2_Missense_Mutation_p.E75K|MPP7_ENST00000375719.3_Missense_Mutation_p.E200K	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	200	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TGTATTATTTCCTCAGGCCTT	0.338000													31	59					0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1821173	1821173	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:1821173G>A	ENST00000302787.2	-	11	1931	c.1635C>T	c.(1633-1635)atC>atT	p.I545I		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	545					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGAGGATGTCGATTTCCTCCT	0.532000													38	45					0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47680330	47680330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:47680330C>T	ENST00000283303.2	+	5	796	c.538C>T	c.(538-540)Cga>Tga	p.R180*	GPR115_ENST00000371220.1_Nonsense_Mutation_p.R237*|GPR115_ENST00000327753.3_Nonsense_Mutation_p.R180*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	180					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R180R(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TAATGTTACTCGAGAGAAAAT	0.274000													23	21					0	0	1	0	0
CD226	10666	broad.mit.edu	37	18	67531570	67531570	+	Silent	SNP	T	T	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:67531570T>G	ENST00000280200.4	-	7	1259	c.991A>C	c.(991-993)Aga>Cga	p.R331R	CD226_ENST00000577287.1_Silent_p.R176R|CD226_ENST00000582621.1_Silent_p.R331R|CD226_ENST00000581982.1_Silent_p.R176R	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	331					cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GTCTTTGGTCTGCGAGAGAAG	0.373000													33	46					0	0	1	0	0
FCGR2B	2213	broad.mit.edu	37	1	161642806	161642806	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:161642806G>A	ENST00000367962.4	+	4	560	c.433G>A	c.(433-435)Gga>Aga	p.G145R	RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000403078.3_Missense_Mutation_p.G145R|FCGR2B_ENST00000428605.2_Missense_Mutation_p.G145R|FCGR2B_ENST00000367960.5_Missense_Mutation_p.G138R|FCGR2B_ENST00000367961.4_Missense_Mutation_p.G138R|FCGR2B_ENST00000358671.5_Missense_Mutation_p.G145R|FCGR2B_ENST00000236937.9_Missense_Mutation_p.G145R			P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	145	Ig-like C2-type 2.				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity					all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTTCCAGGAGGGAGAAACCAT	0.542000			T	?	ALL								15	38					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1255463	1255463	+	Silent	SNP	G	G	A	rs67578903		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:1255463G>A	ENST00000310581.5	-	14	3153	c.3096C>T	c.(3094-3096)ttC>ttT	p.F1032F	TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Silent_p.F969F	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1032	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGACGCGCAGGAAAAATGTGG	0.567000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				24	25					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178559900	178559900	+	Splice_Site	SNP	T	T	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:178559900T>G	ENST00000251582.7	-	14	2188	c.2085_splice	c.e14-1	p.K696_splice		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	696	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ACAGCCCACCTTCTGTTGGGG	0.582000													10	18					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998721	112998721	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:112998721C>T	ENST00000271277.6	+	6	832	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	203						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAGGAGAGCTGAGCCTGAA	0.552000													28	38					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269703	28269703	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:28269703G>A	ENST00000405948.2	+	7	2492	c.2072G>A	c.(2071-2073)gGg>gAg	p.G691E	PGBD1_ENST00000259883.3_Missense_Mutation_p.G691E	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	691					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CGTTGGTATGGGGATGGCATT	0.388000													122	100					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26513471	26513471	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:26513471C>T	ENST00000376261.3	+	6	1118	c.615C>T	c.(613-615)ttC>ttT	p.F205F	GAD2_ENST00000376248.1_Silent_p.F91F|GAD2_ENST00000259271.3_Silent_p.F205F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	205					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ATTTCAGGTTCACCTATGAAA	0.363000													22	27					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134804	128134804	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:128134804G>A	ENST00000368250.1	-	5	1243	c.745C>T	c.(745-747)Cct>Tct	p.P249S	THEMIS_ENST00000537166.1_Missense_Mutation_p.P293S|THEMIS_ENST00000368248.2_Missense_Mutation_p.P328S|THEMIS_ENST00000543064.1_Missense_Mutation_p.P328S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	328	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGTCTTTTAGGAAAATTGCTT	0.458000													47	51					0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43804653	43804653	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:43804653C>T	ENST00000243924.3	+	2	278	c.231C>T	c.(229-231)ccC>ccT	p.P77P		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	77	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	p.P77P(1)		large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GCTCCTGCCCCATTATCTTGA	0.498000													34	68					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459715	107459715	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:107459715C>T	ENST00000409382.3	-	2	1329	c.719G>A	c.(718-720)gGg>gAg	p.G240E	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G240E|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G240E	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	240					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTCCCGCTTCCCGCGGAAGCG	0.677000													17	3					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6304153	6304153	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:6304153C>T	ENST00000226760.1	+	8	2801	c.2631C>T	c.(2629-2631)ttC>ttT	p.F877F	WFS1_ENST00000503569.1_Silent_p.F877F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	877	Poly-Phe.				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCGTGAAGTTCGCCTTCGACT	0.612000													19	13					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514862	157514862	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:157514862G>A	ENST00000361835.3	-	4	475	c.318C>T	c.(316-318)atC>atT	p.I106I	FCRL5_ENST00000368189.3_Silent_p.I106I|FCRL5_ENST00000368191.3_Silent_p.I21I|FCRL5_ENST00000356953.4_Silent_p.I106I|FCRL5_ENST00000368190.3_Silent_p.I106I	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	106						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAGCTTGCAGGATCAGCGAAG	0.373000													37	37					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921430	25921430	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:25921430G>A	ENST00000377850.3	-	4	975	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	SLC17A2_ENST00000265425.3_Missense_Mutation_p.R151W|SLC17A2_ENST00000360488.3_Missense_Mutation_p.R151W			O00624	NPT3_HUMAN	solute carrier family 17, member 2	151					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGGACTGTCCGAACCATGATG	0.438000													30	86					0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3821400	3821400	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:3821400C>T	ENST00000262961.4	-	10	1579	c.1569G>A	c.(1567-1569)agG>agA	p.R523R		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	523						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCCGCTGCTTCCTCATGCGCT	0.682000													10	15					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41199939	41199939	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:41199939G>C	ENST00000263413.3	-	4	640	c.376C>G	c.(376-378)Cca>Gca	p.P126A	C6_ENST00000337836.5_Missense_Mutation_p.P126A	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	126	TSP type-1 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGAATGCATGGTTGAAAGGCT	0.438000													54	68					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114437848	114437848	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:114437848C>T	ENST00000369569.1	-	10	2339	c.2059G>A	c.(2059-2061)Gat>Aat	p.D687N	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.D687N|AP4B1_ENST00000369567.1_Missense_Mutation_p.D519N|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	687					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGTATCATCCTGAGCACTG	0.488000													27	27					0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74645530	74645530	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:74645530G>A	ENST00000536019.1	+	8	1304	c.859G>A	c.(859-861)Gac>Aac	p.D287N	MCU_ENST00000357157.6_Missense_Mutation_p.D315N|MCU_ENST00000373053.3_Missense_Mutation_p.D336N|MCU_ENST00000605416.1_3'UTR	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	336					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						GAGACTGAGAGACCCATTACA	0.403000													25	36					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103825819	103825819	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:103825819C>T	ENST00000299238.5	+	1	673	c.588C>T	c.(586-588)tcC>tcT	p.S196S		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	196						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TGCTGGCCTCCTGCAGACAAC	0.662000									Hermansky-Pudlak syndrome				18	35					0	0	1	0	0
CHI3L2	1117	broad.mit.edu	37	1	111781451	111781451	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:111781451C>T	ENST00000445067.2	+	10	1586	c.815C>T	c.(814-816)tCc>tTc	p.S272F	CHI3L2_ENST00000524472.1_Missense_Mutation_p.S193F|CHI3L2_ENST00000466741.1_Missense_Mutation_p.S193F|CHI3L2_ENST00000369748.4_Missense_Mutation_p.S272F|CHI3L2_ENST00000369744.2_Missense_Mutation_p.S262F			Q15782	CH3L2_HUMAN	chitinase 3-like 2	272					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TATGGGCACTCCTTCACACTG	0.557000													61	79					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39315967	39315967	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:39315967G>A	ENST00000263408.4	-	6	875	c.780C>T	c.(778-780)tcC>tcT	p.S260S	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	260	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AAGAAATTGAGGAGGCTGTTT	0.328000													20	36					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74011656	74011656	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:74011656C>T	ENST00000301607.3	-	15	2017	c.1764G>A	c.(1762-1764)aaG>aaA	p.K588K	EVPL_ENST00000586740.1_Silent_p.K610K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	588	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTCGCACTCCTTCTGGGCTG	0.667000													13	0					0	0	1	0	0
C12orf71	728858	broad.mit.edu	37	12	27234245	27234245	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:27234245G>A	ENST00000429849.2	-	2	702	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	224										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAGAGGGGAGGATACGCTGCC	0.557000													27	50					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206480522	206480522	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:206480522G>A	ENST00000406610.2	+	23	3810	c.3603G>A	c.(3601-3603)atG>atA	p.M1201I	PARD3B_ENST00000349953.3_Missense_Mutation_p.M1100I|PARD3B_ENST00000358768.2_Missense_Mutation_p.M1139I|PARD3B_ENST00000351153.1_Missense_Mutation_p.M1132I|PARD3B_ENST00000488622.1_3'UTR	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1201					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGAACCCCATGACTGCAGCCG	0.587000													31	50					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11291001	11291001	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:11291001G>A	ENST00000361445.4	-	18	2836	c.2760C>T	c.(2758-2760)tcC>tcT	p.S920S		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	920					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GACTTGACTTGGATTCTGACA	0.493000													51	80					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24927558	24927558	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:24927558C>T	ENST00000533227.1	+	6	447	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F	LUZP2_ENST00000336930.6_Missense_Mutation_p.L140F	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	140						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAAAAACAAACTCTTGTCAGG	0.323000													16	4					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54416194	54416194	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:54416194G>A	ENST00000391767.1	+	2	321	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Missense_Mutation_p.E37K|CACNG7_ENST00000222212.2_Missense_Mutation_p.E37K			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	37					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCTGTACATGGAAGAAGGCAC	0.627000													13	21					0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77224665	77224665	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:77224665C>T	ENST00000458128.1	-	1	470	c.471G>A	c.(469-471)aaG>aaA	p.K157K	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	157					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CAATAGTATCCTTCGGACTCT	0.517000													75	8					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25367199	25367199	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:25367199G>A	ENST00000255324.5	+	10	1007	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	RNF17_ENST00000381921.1_Missense_Mutation_p.E319K|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.5_Missense_Mutation_p.E320K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	319					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		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)		CCAAGAAAATGAAATTAGACA	0.328000													33	51					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13383560	13383560	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:13383560G>A	ENST00000254508.5	-	22	3110	c.3028C>T	c.(3028-3030)Ctt>Ttt	p.L1010F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1010					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TATTTGGCAAGGAAGGGCTTC	0.562000													25	33					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26232187	26232187	+	Silent	SNP	A	A	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:26232187A>G	ENST00000354667.4	-	11	1179	c.1011T>C	c.(1009-1011)ggT>ggC	p.G337G	HNRNPA2B1_ENST00000356674.7_Silent_p.G325G	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	337	Gly-rich.|Nuclear targeting sequence (By similarity).				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TGCCTCCTGGACCATAGTTTC	0.403000			T	ETV1	prostate								55	87					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769984	37769984	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:37769984C>T	ENST00000402918.1	-	3	2376	c.1591G>A	c.(1591-1593)Gct>Act	p.A531T	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.A531T	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	531						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					ATCTCTGCAGCCGAGCCCTGG	0.607000													46	61					0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116949433	116949433	+	Silent	SNP	T	T	C	rs143732959	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:116949433T>C	ENST00000229554.5	+	3	1700	c.1563T>C	c.(1561-1563)aaT>aaC	p.N521N	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Silent_p.N521N	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	521	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTGGGCGAAATAGCTTTGAGG	0.458000									Kartagener syndrome				47	61					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324699	3324699	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:3324699G>A	ENST00000291231.1	+	1	838	c.838G>A	c.(838-840)Gat>Aat	p.D280N		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TTCAGACAAGGATAAGGGGGT	0.512000													61	18					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79373405	79373405	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:79373405C>T	ENST00000264895.6	+	47	7100	c.6660C>T	c.(6658-6660)acC>acT	p.T2220T		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2219					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAATCACCACCCTGCAGCTGT	0.478000													35	39					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40041513	40041513	+	Missense_Mutation	SNP	C	C	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:40041513C>A	ENST00000181839.4	+	5	2841	c.2236C>A	c.(2236-2238)Cca>Aca	p.P746T	CDK13_ENST00000340829.5_Missense_Mutation_p.P746T|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	746	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GGAAGGCTTTCCAATTACAGC	0.338000													27	49					1.1804e-14	1.19162e-14	1	1	0
PROX1	5629	broad.mit.edu	37	1	214171138	214171138	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:214171138C>T	ENST00000366958.4	+	2	1868	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P	PROX1_ENST00000435016.1_Silent_p.P420P|PROX1_ENST00000498508.2_Silent_p.P420P|PROX1_ENST00000261454.4_Silent_p.P420P	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	420					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTCCGAACCCCCTGGACACCT	0.567000													57	86					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164783091	164783091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:164783091C>T	ENST00000264382.3	-	7	827	c.765G>A	c.(763-765)tgG>tgA	p.W255*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	255	Isomaltase.				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			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCCATGTTTTCCAGGATAAAT	0.338000										HNSCC(35;0.089)			27	43					0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52020304	52020304	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:52020304G>A	ENST00000458031.2	+	8	894	c.663G>A	c.(661-663)gaG>gaA	p.E221E	ACY1_ENST00000404366.2_Silent_p.E131E|ACY1_ENST00000476854.1_Silent_p.E131E|ACY1_ENST00000494103.1_Intron|ACY1_ENST00000476351.1_Silent_p.E96E|ABHD14A-ACY1_ENST00000463937.1_Silent_p.E232E			Q03154	ACY1_HUMAN	aminoacylase 1	131					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	TGAAGGTGGAGGGCCACCGGT	0.652000													11	22					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666682	19666682	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:19666682G>A	ENST00000284885.3	-	21	2424	c.2391C>T	c.(2389-2391)ccC>ccT	p.P797P		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	797	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCACAACCCAGGGCCAGGCCC	0.527000													57	79					0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7362692	7362692	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:7362692C>T	ENST00000266563.5	+	15	1865	c.1682C>T	c.(1681-1683)gCc>gTc	p.A561V	PEX5_ENST00000455147.2_Missense_Mutation_p.A598V|PEX5_ENST00000434354.2_Missense_Mutation_p.A613V|PEX5_ENST00000266564.3_Missense_Mutation_p.A590V|PEX5_ENST00000412720.2_Missense_Mutation_p.A619V|PEX5_ENST00000420616.2_Missense_Mutation_p.A598V	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	598					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GAAGGAGGTGCCATGTCGGAG	0.602000													29	25					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142920098	142920098	+	Silent	SNP	G	G	A	rs76255203	by1000genomes	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:142920098G>A	ENST00000408947.3	+	1	969	c.927G>A	c.(925-927)cgG>cgA	p.R309R		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	309					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CCTGGAAGCGGTTTCAGCACC	0.537000													27	41					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46744675	46744675	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:46744675C>T	ENST00000394809.4	-	11	2256	c.2141G>A	c.(2140-2142)gGg>gAg	p.G714E	MYLK3_ENST00000536476.1_Missense_Mutation_p.G373E|MYLK3_ENST00000562104.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	714	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATCTGTTTCCCCTAGAAATGG	0.468000													72	85					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107752349	107752349	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:107752349C>T	ENST00000388781.3	-	4	318	c.235G>A	c.(235-237)Gat>Aat	p.D79N	LAMB4_ENST00000414450.2_Missense_Mutation_p.D79N|LAMB4_ENST00000388780.3_Missense_Mutation_p.D79N|LAMB4_ENST00000205386.4_Missense_Mutation_p.D79N	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	79	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCATACGGATCATATGGAAAT	0.353000													55	61					0	0	1	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36233529	36233529	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:36233529G>A	ENST00000292879.5	-	6	632	c.579C>T	c.(577-579)atC>atT	p.I193I	U2AF1L4_ENST00000412391.2_3'UTR|AD000671.6_ENST00000589807.1_Intron|U2AF1L4_ENST00000378975.3_3'UTR	NM_144987.2	NP_659424.2	Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	0					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTGGGAAGGATGGGGCAGG	0.572000													38	44					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752615	76752615	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:76752615G>A	ENST00000536229.3	+	1	934	c.225G>A	c.(223-225)caG>caA	p.Q75Q	SALL3_ENST00000575389.2_Silent_p.Q208Q|SALL3_ENST00000537592.2_Silent_p.Q208Q			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCTGGAACAGCTCATGGCCC	0.721000													4	4					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259408	32259408	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:32259408G>A	ENST00000360482.2	-	12	2603	c.2474C>T	c.(2473-2475)cCt>cTt	p.P825L	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.P318L|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P825L	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	825					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCAGGCATAGGAGTTTGGCT	0.577000													65	103					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16958820	16958820	+	RNA	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:16958820G>A	ENST00000412962.1	-	0	74																											TCCTTCTCCAGATTCTGCTTC	0.597000													8	38					0	0	1	0	0
CA3	761	broad.mit.edu	37	8	86354322	86354322	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:86354322C>T	ENST00000285381.2	+	3	336	c.253C>T	c.(253-255)Cct>Tct	p.P85S	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	85					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGGTCCTCTCCCTGGACCCTA	0.507000													28	39					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124399788	124399788	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:124399788C>T	ENST00000368909.3	+	52	6894	c.6788C>T	c.(6787-6789)tCa>tTa	p.S2263L	DMBT1_ENST00000330163.4_Missense_Mutation_p.S1635L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1635L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S983L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2253L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2253L|DMBT1_ENST00000338354.3_Missense_Mutation_p.S2263L	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2263	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			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TATACTTCCTCATCTTTCTTG	0.458000													62	58					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116729357	116729357	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:116729357G>A	ENST00000375300.1	-	20	2685	c.2680C>T	c.(2680-2682)Ctg>Ttg	p.L894L	SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000292055.4_Silent_p.L836L|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000542607.1_Intron			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	836	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCCGAAAACAGATGGGGGTGT	0.547000													39	62					0	0	1	0	0
UNKL	64718	broad.mit.edu	37	16	1453328	1453328	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:1453328C>T	ENST00000389221.4	-	3	304	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	UNKL_ENST00000397462.1_Missense_Mutation_p.R189Q|UNKL_ENST00000508903.2_Missense_Mutation_p.R102Q|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000301712.5_Missense_Mutation_p.R102Q	NM_001193388.1	NP_001180317.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	102						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CCCCGTCGTCCGGTGCAGGTA	0.607000													17	16					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167815304	167815304	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:167815304G>A	ENST00000367848.1	-	20	2856	c.2359C>T	c.(2359-2361)Ctt>Ttt	p.L787F	ADCY10_ENST00000367851.4_Missense_Mutation_p.L879F|ADCY10_ENST00000545172.1_Missense_Mutation_p.L726F|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	879					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCCTTTTGAAGCTCCTTGCCA	0.463000													60	69					0	0	1	0	0
CD53	963	broad.mit.edu	37	1	111439345	111439345	+	Missense_Mutation	SNP	G	G	A	rs150734121	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:111439345G>A	ENST00000271324.5	+	6	606	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	CD53_ENST00000497404.1_Intron|CD53_ENST00000429072.2_Intron	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	165					signal transduction	integral to membrane|plasma membrane		p.R165Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CCCTCAGATCGAAAAGTGGAG	0.443000													30	51					0	0	1	0	0
NAPA	8775	broad.mit.edu	37	19	48018142	48018142	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:48018142C>T	ENST00000263354.3	-	1	355	c.56G>A	c.(55-57)cGc>cAc	p.R19H	NAPA_ENST00000595227.1_Missense_Mutation_p.R19H|NAPA_ENST00000593785.1_5'UTR	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	19					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CTTCACTTTGCGCTCCGCCTC	0.632000													15	23					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46860045	46860045	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:46860045G>A	ENST00000262738.3	-	2	3741	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*	CELSR1_ENST00000395964.1_Nonsense_Mutation_p.Q1248*	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1248					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTGTCGTTCTGGACGTTGAAG	0.652000													42	34					0	0	1	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390927	52390927	+	RNA	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:52390927C>T	ENST00000443374.1	+	0	1620																											ACGTTGAACTCGGAGGCCGGG	0.587000													3	7					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125899	58125899	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:58125899G>A	ENST00000357377.3	-	1	643	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S215F(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACAGATAGGAAATCAAGGT	0.373000													20	36					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1625578	1625578	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:1625578G>A	ENST00000262965.5	-	7	840	c.496C>T	c.(496-498)Cta>Tta	p.L166L	TCF3_ENST00000588136.1_Silent_p.L166L|TCF3_ENST00000453954.2_Silent_p.L82L|TCF3_ENST00000395423.3_Silent_p.L115L|TCF3_ENST00000344749.5_Silent_p.L166L	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	166					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		CGCTCACCTAGGCTGCCGTCT	0.692000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								3	5					0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36031707	36031707	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:36031707C>T	ENST00000373578.2	+	14	1885	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	SRC_ENST00000358208.4_Silent_p.F512F|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000445403.1_Silent_p.F512F|SRC_ENST00000373567.2_Silent_p.F512F|SRC_ENST00000360723.4_Silent_p.F518F|SRC_ENST00000373558.2_Silent_p.F518F	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	512	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GGCCCACCTTCGAGTACCTGC	0.682000													5	2					0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7721945	7721945	+	RNA	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:7721945G>A	ENST00000454689.1	-	0	798				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CTCCAGCCTCGACCACAGCCC	0.517000													9	2					0	0	1	0	0
RPL35A	6165	broad.mit.edu	37	3	197680974	197680974	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:197680974C>T	ENST00000464167.1	+	4	532	c.265C>T	c.(265-267)Cga>Tga	p.R89*	RPL35A_ENST00000329092.8_3'UTR|IQCG_ENST00000480302.1_Intron|IQCG_ENST00000265239.6_Intron|RPL35A_ENST00000448864.1_Nonsense_Mutation_p.R89*	NM_000996.2	NP_000987.2	P18077	RL35A_HUMAN	ribosomal protein L35a	89					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome|tRNA binding			lung(1)|prostate(1)|urinary_tract(1)	3	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.182)		TGCCAAATTCCGAAGCAATCT	0.483000													11	28					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38291485	38291485	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:38291485C>T	ENST00000311806.3	+	15	1723	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	OXSR1_ENST00000446845.1_Nonsense_Mutation_p.R451*	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	451					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAATGATATTCGATTTGAATT	0.308000													11	21					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33552608	33552608	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:33552608G>A	ENST00000265371.4	-	5	1149	c.624C>T	c.(622-624)taC>taT	p.Y208Y	NRP1_ENST00000374822.4_Silent_p.Y208Y|NRP1_ENST00000374823.5_Silent_p.Y208Y|NRP1_ENST00000374867.2_Silent_p.Y208Y|NRP1_ENST00000395995.1_Silent_p.Y208Y|NRP1_ENST00000374816.3_Silent_p.Y208Y|NRP1_ENST00000374821.5_Silent_p.Y208Y			O14786	NRP1_HUMAN	neuropilin 1	208	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTAGCCGGTCGTAGCGACAGA	0.473000													30	34					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892263	9892263	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:9892263C>T	ENST00000396573.2	-	12	2536	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K	GRIN2A_ENST00000404927.2_Missense_Mutation_p.E743K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E586K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E743K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E743K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E743K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	743					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGCAGCCTTCATCCCTCCCA	0.537000													21	37					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106124574	106124574	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:106124574C>T	ENST00000369704.3	+	4	658	c.524C>T	c.(523-525)tCc>tTc	p.S175F	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	175										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TTACGAGAATCCCTAGCTCAG	0.463000													26	32					0	0	1	0	0
ZNF507	22847	broad.mit.edu	37	19	32843887	32843887	+	Silent	SNP	T	T	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:32843887T>C	ENST00000311921.3	+	2	343	c.151T>C	c.(151-153)Tta>Cta	p.L51L	ZNF507_ENST00000355898.5_Silent_p.L51L|ZNF507_ENST00000544431.1_Silent_p.L51L|ZNF507_ENST00000587084.1_3'UTR	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TATCCAGAAGTTAAGCAAGAT	0.373000													36	39					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195490396	195490396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:195490396G>A	ENST00000463781.3	-	12	14620	c.14161C>T	c.(14161-14163)Cag>Tag	p.Q4721*	MUC4_ENST00000346145.4_Nonsense_Mutation_p.Q485*|MUC4_ENST00000349607.4_Nonsense_Mutation_p.Q434*|MUC4_ENST00000475231.1_Nonsense_Mutation_p.Q4669*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1478					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGCGGCCCTGAAGCAGGAAG	0.642000													8	8					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125131980	125131980	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:125131980C>T	ENST00000522917.1	+	41	5729	c.5523C>T	c.(5521-5523)ttC>ttT	p.F1841F	FER1L6_ENST00000399018.1_Silent_p.F1841F|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1841						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			tcgtccttttcatcTACACCT	0.463000													61	84					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112479058	112479058	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:112479058C>T	ENST00000302475.4	-	3	735		c.e3-1		MCC_ENST00000515367.2_Splice_Site|MCC_ENST00000408903.3_Splice_Site|MCC_ENST00000514701.3_Splice_Site	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers						negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ACTGCTCGCACTGGGAATAAG	0.507000													26	26					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6239109	6239109	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:6239109G>A	ENST00000265978.4	-	9	2107	c.1749C>T	c.(1747-1749)tgC>tgT	p.C583C	FAM160A2_ENST00000449352.2_Silent_p.C569C|FAM160A2_ENST00000524416.1_Silent_p.C569C	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	569					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAGGTACGGCAGGCTCGGA	0.622000													4	45					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43008396	43008396	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:43008396G>A	ENST00000535468.1	-	21	4233	c.4147C>T	c.(4147-4149)Cgc>Tgc	p.R1383C	CUL7_ENST00000265348.3_Missense_Mutation_p.R1299C	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1299					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGGGGGAGGCGGTTGGGGAAG	0.637000													42	59					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24583226	24583226	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:24583226G>A	ENST00000319715.4	+	18	5271	c.4839G>A	c.(4837-4839)aaG>aaA	p.K1613K	RBBP6_ENST00000348022.2_Silent_p.K1579K|RBBP6_ENST00000381039.3_Silent_p.K773K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1613					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTACTGTCAAGCCTAAACCCC	0.388000													37	48					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760908	92760908	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:92760908G>A	ENST00000318238.4	-	5	5593	c.4377C>T	c.(4375-4377)ttC>ttT	p.F1459F	SAMD9L_ENST00000437805.1_Silent_p.F1459F|SAMD9L_ENST00000411955.1_Silent_p.F1459F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1459										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTGTCCCCTGAAGGATCTAT	0.428000													86	90					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779256	159779256	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:159779256G>A	ENST00000321935.6	+	6	776	c.690G>A	c.(688-690)atG>atA	p.M230I	FCRL6_ENST00000392235.3_Missense_Mutation_p.M128I|FCRL6_ENST00000368106.3_Missense_Mutation_p.M223I|FCRL6_ENST00000339348.5_Missense_Mutation_p.M223I			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	223	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGGGGGACATGGTGCAGCTCC	0.612000													38	40					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2239441	2239441	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:2239441G>A	ENST00000343516.6	-	4	461	c.369C>T	c.(367-369)gcC>gcT	p.A123A		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	123					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GACCATGCTGGGCCGCCAGGT	0.711000													6	17					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445888	87445888	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:87445888C>T	ENST00000268616.4	-	12	2245	c.2028G>A	c.(2026-2028)ctG>ctA	p.L676L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	676					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TGGCTGTGTACAGAGCAGTCC	0.512000													56	66					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17393732	17393732	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:17393732C>T	ENST00000394458.3	+	4	657	c.381C>T	c.(379-381)gtC>gtT	p.V127V	ANKLE1_ENST00000594072.1_Silent_p.V116V|ANKLE1_ENST00000433424.2_Silent_p.V181V|ANKLE1_ENST00000598347.1_Silent_p.V127V|ANKLE1_ENST00000404085.1_Silent_p.V149V|CTD-2278I10.6_ENST00000596542.1_3'UTR	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	127						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCGCGCGAGTCCTGCAGGATC	0.716000											OREG0025341	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	2					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155025185	155025185	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:155025185C>T	ENST00000356955.2	+	2	219	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	ADAM15_ENST00000360674.4_Missense_Mutation_p.P40S|ADAM15_ENST00000368413.1_Missense_Mutation_p.P40S|ADAM15_ENST00000359280.4_Missense_Mutation_p.P40S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.P40S|ADAM15_ENST00000447332.3_Silent_p.P49P|ADAM15_ENST00000531455.1_Missense_Mutation_p.P50S|ADAM15_ENST00000271836.6_Missense_Mutation_p.P40S|ADAM15_ENST00000449910.2_Missense_Mutation_p.P40S|ADAM15_ENST00000368410.2_Missense_Mutation_p.P40S|ADAM15_ENST00000368412.3_Missense_Mutation_p.P40S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	40					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AGAGAAGGCCCCGAGGGAGCC	0.582000											OREG0013847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112620143	112620143	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:112620143G>A	ENST00000341068.3	-	10	1857	c.1085C>T	c.(1084-1086)tCt>tTt	p.S362F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	362					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CCCTGAAAAAGAGTGCACTCC	0.413000													6	10					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064586	78064586	+	Missense_Mutation	SNP	G	G	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:78064586G>C	ENST00000299642.4	+	3	554	c.469G>C	c.(469-471)Gct>Cct	p.A157P	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000575655.1_Missense_Mutation_p.A148P	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	148	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CAACGGAATCGCTATCTCCTT	0.517000													37	56					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15747975	15747975	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:15747975G>A	ENST00000285667.3	-	4	813	c.746C>T	c.(745-747)tCt>tTt	p.S249F	HSPA13_ENST00000544452.1_Missense_Mutation_p.S41F	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	249						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTTCTTACCAGACATTGCTCG	0.537000													30	43					0	0	1	0	0
DFFB	1677	broad.mit.edu	37	1	3786330	3786330	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:3786330C>T	ENST00000378209.3	+	5	995	c.672C>T	c.(670-672)ttC>ttT	p.F224F	DFFB_ENST00000338895.3_Silent_p.F224F	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	224					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AAGGCTGGTTCTCCTGCCAGG	0.662000													10	13					0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55886935	55886935	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:55886935G>A	ENST00000521992.1	-	11	1363	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	CES5A_ENST00000319165.9_Silent_p.I377I|CES5A_ENST00000290567.9_Silent_p.I377I|CES5A_ENST00000518005.1_Silent_p.I271I|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000520435.1_Silent_p.I347I	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	377						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACTGAGGCGGGATGTGCTGTA	0.458000													32	45					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89981778	89981778	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:89981778G>A	ENST00000405460.2	+	29	6552	c.6456G>A	c.(6454-6456)gtG>gtA	p.V2152V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2152					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.V2152V(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTCTCTGTGAAGTTTAAAG	0.428000													8	8					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128649886	128649886	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:128649886C>A	ENST00000371122.4	-	4	643	c.514G>T	c.(514-516)Gag>Tag	p.E172*	SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.E172*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.E172*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	172					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GGTGACACCTCAAATCTAATA	0.343000													45	4					4.01765e-15	4.06875e-15	1	1	0
KMT2B	9757	broad.mit.edu	37	19	36228131	36228131	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:36228131C>T	ENST00000222270.7	+	33	7517	c.7517C>T	c.(7516-7518)cCc>cTc	p.P2506L	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.P2506L	NM_014727.1	NP_055542.1																					CCCCTGAATCCCCATGGGGCT	0.637000													3	4					0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34179203	34179203	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:34179203C>T	ENST00000266483.2	+	3	1094	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	259					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCCCTACATCCTTCTGGGATT	0.373000													119	173					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67636459	67636459	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:67636459G>A	ENST00000335894.4	+	6	633	c.567G>A	c.(565-567)caG>caA	p.Q189Q	IQCH_ENST00000358767.3_Silent_p.Q16Q|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	189										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTACCTTTCAGAATCCACCCA	0.393000													20	38					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51497448	51497448	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:51497448G>A	ENST00000371117.3	-	65	11855	c.11580C>T	c.(11578-11580)atC>atT	p.I3860I		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3860					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			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGCAGCCAGGATGATGGTCG	0.483000													28	29					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660215	77660215	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:77660215G>A	ENST00000296043.6	+	5	1842	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	297					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGGCCTCCTCGAAGGGATGAG	0.557000													34	38					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58491601	58491601	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:58491601G>A	ENST00000357552.3	-	8	678	c.453C>T	c.(451-453)ttC>ttT	p.F151F	SYCP2_ENST00000371001.2_Silent_p.F151F			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	151					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGCGAGGTACGAAACTTTCCA	0.294000													17	19					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40069005	40069005	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:40069005C>T	ENST00000336649.4	+	31	4719	c.4719C>T	c.(4717-4719)acC>acT	p.T1573T	CACNA1I_ENST00000401624.1_Silent_p.T1567T|CACNA1I_ENST00000404898.1_Silent_p.T1532T|CACNA1I_ENST00000402142.3_Silent_p.T1567T|CACNA1I_ENST00000400164.3_Silent_p.T1532T|CACNA1I_ENST00000407673.1_Silent_p.T1532T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1567					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGGGCATCACCCTGGAGGAGA	0.607000													21	32					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325685	152325685	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:152325685C>T	ENST00000388718.5	-	3	4649	c.4577G>A	c.(4576-4578)gGa>gAa	p.G1526E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1526							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTTGAGATCCACTTTGGCC	0.488000													156	236					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117008756	117008756	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:117008756G>A	ENST00000284629.2	-	11	1133	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	357					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GAAGAAAGTTGAGGAACTCAT	0.313000													53	50					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172935784	172935784	+	Silent	SNP	T	T	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:172935784T>C	ENST00000315796.4	+	6	1077	c.690T>C	c.(688-690)atT>atC	p.I230I	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	230					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TCTCTGTAATTGGAAACACAA	0.443000													26	27					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062354	194062354	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:194062354G>A	ENST00000323830.3	-	2	1167	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	CPN2_ENST00000429275.1_Silent_p.L360L	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	360					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AGCTTGGACAGGTTCTGGAAG	0.582000													32	37					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38793882	38793882	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:38793882C>T	ENST00000449082.2	-	11	1582	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	528					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTCGTGGTCTCCAGGAAAGAC	0.607000													24	44					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	33996038	33996038	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:33996038C>T	ENST00000374181.3	-	9	2717	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	GRM4_ENST00000538487.1_Missense_Mutation_p.E850K|GRM4_ENST00000455714.2_Missense_Mutation_p.E710K|GRM4_ENST00000545715.1_Missense_Mutation_p.E542K|GRM4_ENST00000374177.3_Missense_Mutation_p.E734K|GRM4_ENST00000535756.1_Missense_Mutation_p.E717K|GRM4_ENST00000544773.1_Missense_Mutation_p.E681K	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	850					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	ACGTTCTGCTCCGGGTGGAAG	0.607000													40	60					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14517794	14517794	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:14517794G>A	ENST00000403951.2	-	21	2249	c.1830C>T	c.(1828-1830)ttC>ttT	p.F610F	DGKB_ENST00000399322.3_Silent_p.F610F|DGKB_ENST00000258767.5_Silent_p.F610F|DGKB_ENST00000402815.1_Silent_p.F609F|DGKB_ENST00000444700.2_Silent_p.F591F|DGKB_ENST00000407950.1_Silent_p.F602F|DGKB_ENST00000406247.3_Silent_p.F610F|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	610					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ACCTACTGTTGAATTTCTCTG	0.343000													6	4					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120801997	120801997	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:120801997G>A	ENST00000369144.3	-	19	3162	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1012	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTCATCATCCGCATGACGCCA	0.572000													18	217					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38862574	38862574	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:38862574C>T	ENST00000339659.3	+	6	2205	c.735C>T	c.(733-735)ttC>ttT	p.F245F	DYRK1A_ENST00000321219.8_Silent_p.F254F|DYRK1A_ENST00000398956.2_Silent_p.F254F|DYRK1A_ENST00000338785.3_Silent_p.F254F|DYRK1A_ENST00000451934.1_Silent_p.F254F|DYRK1A_ENST00000455387.2_Silent_p.F26F|DYRK1A_ENST00000398960.2_Silent_p.F254F	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	254	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACACCAATTTCCGAGGGGTCT	0.428000													34	41					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906675	164906675	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:164906675C>T	ENST00000475390.1	-	2	2387	c.1944G>A	c.(1942-1944)ggG>ggA	p.G648G	SLITRK3_ENST00000241274.3_Silent_p.G648G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	648						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCACAGGGCCCCCAGGAGGAG	0.542000										HNSCC(40;0.11)			14	21					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71500648	71500648	+	Splice_Site	SNP	C	C	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:71500648C>A	ENST00000304743.2	+	18	4115	c.3668_splice	c.e18-1	p.F1223_splice	PCNX_ENST00000238570.5_Splice_Site_p.F1223_splice|PCNX_ENST00000439984.3_Splice_Site_p.F1112_splice	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1223						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCACATAAAGCTCTTTAGTGC	0.323000													15	3					6.72482e-11	6.75664e-11	1	1	0
F8	2157	broad.mit.edu	37	X	154159724	154159724	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:154159724G>A	ENST00000360256.4	-	14	2541	c.2341C>T	c.(2341-2343)Cca>Tca	p.P781S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	781	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCATTTTCTGGAATTGTGGTG	0.408000													80	8					0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61405167	61405167	+	RNA	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:61405167G>A	ENST00000496593.1	+	0	1771					NR_002775.2																						ggaaataaaggcttacttctt	0.308000													10	11					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43880800	43880800	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:43880800C>T	ENST00000562955.1	+	5	546	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	182						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGAGGTGTTCCTGCAGCAGA	0.557000											OREG0013431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	13					0	0	1	0	0
CRELD2	79174	broad.mit.edu	37	22	50315946	50315946	+	Splice_Site	SNP	C	C	T	rs71805922		TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:50315946C>T	ENST00000404488.3	+	6	729	c.592_splice	c.e6-1	p.V198_splice	CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000328268.4_Intron	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	197						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		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;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCAGCAGTCAGGACCGGCC	0.627000													11	3					0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249595	71249595	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:71249595C>T	ENST00000398534.3	+	1	525	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	165	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGCTGCCAGTCCAGCTGCTGC	0.597000													92	131					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55076196	55076196	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:55076196C>T	ENST00000302250.2	-	7	1133	c.973G>A	c.(973-975)Gga>Aga	p.G325R	FAM151A_ENST00000371304.2_Intron|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	325						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGGCTGCCTCCCGTGTAGTAC	0.562000													36	50					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546763	9546763	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:9546763G>A	ENST00000378429.3	-	6	1805	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F	PAK7_ENST00000378423.1_Missense_Mutation_p.S420F|PAK7_ENST00000353224.5_Missense_Mutation_p.S420F	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	420	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGCTGGTCGGAGGAGGAGCC	0.632000													49	50					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159284042	159284042	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:159284042G>A	ENST00000332217.5	-	1	407	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TCTTACCCATGATGACTGAAT	0.507000													59	45					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109689873	109689873	+	Missense_Mutation	SNP	T	T	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:109689873T>C	ENST00000338432.7	+	42	5932	c.5813T>C	c.(5812-5814)aTt>aCt	p.I1938T	ACACB_ENST00000543201.1_Missense_Mutation_p.I604T|ACACB_ENST00000377854.5_Missense_Mutation_p.I1868T|ACACB_ENST00000377848.3_Missense_Mutation_p.I1938T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1938	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCCATTGGGATTGGGGCCTAC	0.587000													10	1					0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32083520	32083520	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:32083520G>A	ENST00000375201.4	-	18	2144	c.2099C>T	c.(2098-2100)cCc>cTc	p.P700L	ATF6B_ENST00000375203.3_Missense_Mutation_p.P703L			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	703					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CAGAGGTCAGGGATGATTGAG	0.622000													26	33					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105143	168105143	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:168105143G>A	ENST00000409195.1	+	9	7330	c.7241G>A	c.(7240-7242)gGa>gAa	p.G2414E	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2414E|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2192E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2239					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCATAACAGGAAAAACCGGT	0.438000													41	53					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41754497	41754497	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:41754497G>A	ENST00000301178.4	+	13	1806	c.1616G>A	c.(1615-1617)gGg>gAg	p.G539E	AXL_ENST00000593513.1_Missense_Mutation_p.G271E|AXL_ENST00000359092.3_Missense_Mutation_p.G530E	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	539	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTGGCCCTGGGGAAGACTCTG	0.562000													27	31					0	0	1	0	0
PAGE4	9506	broad.mit.edu	37	X	49597218	49597218	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:49597218C>T	ENST00000218068.6	+	4	336	c.257C>T	c.(256-258)cCa>cTa	p.P86L	PAGE4_ENST00000376141.1_Missense_Mutation_p.P86L	NM_007003.2	NP_008934.1	O60829	GAGC1_HUMAN	P antigen family, member 4 (prostate associated)	86												Ovarian(276;0.236)					GAGAAGACTCCACCTAATCCT	0.383000													36	5					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40815382	40815382	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:40815382C>T	ENST00000396617.3	-	12	1650	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	MKL1_ENST00000402042.1_Missense_Mutation_p.E304K|MKL1_ENST00000355630.3_Missense_Mutation_p.E354K|MKL1_ENST00000407029.1_Missense_Mutation_p.E354K			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	354	SAP.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TGCTTCAGCTCTGCCACCTGC	0.607000			T	RBM15	acute megakaryocytic leukemia								11	17					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70819937	70819937	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:70819937C>T	ENST00000358731.4	+	25	5822	c.5559C>T	c.(5557-5559)acC>acT	p.T1853T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1853					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GGGGTAAGACCTCTAAGAAGG	0.463000													43	49					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166234156	166234156	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:166234156G>A	ENST00000357398.3	+	23	4594	c.4304G>A	c.(4303-4305)cGa>cAa	p.R1435Q	SCN2A_ENST00000375427.2_Missense_Mutation_p.R1435Q|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1435Q|SCN2A_ENST00000375437.2_Missense_Mutation_p.R1435Q			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1435					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTTGATTCACGAAATGTAAGT	0.269000													31	32					0	0	1	0	0
VAMP7	6845	broad.mit.edu	37	X	155127820	155127820	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:155127820G>A	ENST00000286448.6	+	4	414	c.249G>A	c.(247-249)aaG>aaA	p.K83K	VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_Silent_p.K42K|VAMP7_ENST00000262640.6_Silent_p.K83K	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	83	Longin.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGAGATAAAGAAGAGGTTCC	0.403000													43	60					0	0	1	0	0
ECHDC3	79746	broad.mit.edu	37	10	11789463	11789463	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:11789463A>G	ENST00000379215.4	+	2	497	c.286A>G	c.(286-288)Atc>Gtc	p.I96V	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969.2	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	96						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						AGTCATTATCATCTCGGGTAT	0.438000													57	75					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699191	43699191	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:43699191C>T	ENST00000405312.3	-	4	1181	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.R222Q	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	315	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCCACCATATCGGTCCCGTAT	0.488000													91	129					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579104	35579104	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:35579104T>A	ENST00000373330.1	+	11	1847	c.1673T>A	c.(1672-1674)aTt>aAt	p.I558N	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.I558N			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	558						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGCTTATAATTGAAAATATT	0.318000													24	62					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37851831	37851831	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:37851831C>T	ENST00000381967.4	+	12	1539	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	PGM2_ENST00000537241.1_Missense_Mutation_p.S320F	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	480					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ACTAAAGCTTCCTATTTTATC	0.323000													15	14					0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155226534	155226534	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:155226534G>A	ENST00000355379.3	-	7	1028	c.750C>T	c.(748-750)tcC>tcT	p.S250S	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Silent_p.S276S	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	276					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCATGAGCACGGATACTGCTG	0.577000													20	37					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64054478	64054478	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:64054478C>T	ENST00000539851.1	+	3	866	c.399C>T	c.(397-399)agC>agT	p.S133S	GPR137_ENST00000377702.4_Silent_p.S133S|GPR137_ENST00000313074.3_Silent_p.S133S|GPR137_ENST00000411458.1_Silent_p.S191S|GPR137_ENST00000438980.2_Silent_p.S133S	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	133						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CGGAGATGAGCCGAGGCTTGT	0.622000													12	18					0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2139245	2139245	+	Missense_Mutation	SNP	G	G	A	rs141861979	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:2139245G>A	ENST00000334651.5	-	7	882	c.830C>T	c.(829-831)tCc>tTc	p.S277F		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	277							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGCGTAGATGGAAGTCCACGC	0.512000													55	63					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856020	12856020	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:12856020C>T	ENST00000332296.7	+	4	1403	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R189W	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	434										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	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)		CACCCCACTTCGGGCTGAGCT	0.562000													31	228					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961546	85961546	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:85961546G>A	ENST00000383699.3	+	6	1180	c.553G>A	c.(553-555)Gat>Aat	p.D185N	CADM2_ENST00000407528.2_Missense_Mutation_p.D176N|CADM2_ENST00000405615.2_Missense_Mutation_p.D178N	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	176	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AAAAGAAGAGGATGCAAATCG	0.373000													12	19					0	0	1	0	0
MUTYH	4595	broad.mit.edu	37	1	45798111	45798111	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:45798111C>T	ENST00000450313.1	-	9	955	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	MUTYH_ENST00000354383.6_Missense_Mutation_p.R220Q|MUTYH_ENST00000372115.3_Missense_Mutation_p.R233Q|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.R219Q|MUTYH_ENST00000448481.1_Missense_Mutation_p.R230Q|MUTYH_ENST00000372098.3_Missense_Mutation_p.R244Q|MUTYH_ENST00000355498.2_Missense_Mutation_p.R219Q|MUTYH_ENST00000372100.5_Missense_Mutation_p.R230Q|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.R219Q|MUTYH_ENST00000372110.3_Missense_Mutation_p.R234Q	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	244					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACCAATGGCTCGGACACGGCA	0.607000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				15	32					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806870	97806870	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:97806870C>T	ENST00000358642.2	+	1	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATTATAATTCCCCTGCTAAAC	0.373000													16	31					0	0	1	0	0
EPM2A	7957	broad.mit.edu	37	6	146007362	146007362	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:146007362G>A	ENST00000367519.3	-	2	897	c.372C>T	c.(370-372)ctC>ctT	p.L124L	EPM2A_ENST00000496228.1_5'UTR	NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	124	CBM20.				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		GTCCTATTGGGAGACAATACA	0.418000													32	4					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764029	110764029	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:110764029G>A	ENST00000451085.1	+	4	2247	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.E401K|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.E401K|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	401	LRRCT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGACCCACCTGAATTCCAAGG	0.443000													37	37					0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11903859	11903859	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:11903859C>T	ENST00000405977.1	+	5	1739	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S	BTBD3_ENST00000254977.3_Missense_Mutation_p.P311S|BTBD3_ENST00000399006.2_Missense_Mutation_p.P311S|BTBD3_ENST00000378226.2_Missense_Mutation_p.P372S			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	372										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GGGCCTTGTCCCCCAGCGCTG	0.502000													38	33					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7745459	7745459	+	Missense_Mutation	SNP	T	T	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:7745459T>A	ENST00000358415.4	+	1	228	c.62T>A	c.(61-63)aTc>aAc	p.I21N	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.I21N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	21					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGCTTCGAAATCCCCATAAAT	0.408000													30	45					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6427486	6427486	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:6427486C>T	ENST00000449001.2	+	10	1573	c.1079C>T	c.(1078-1080)aCc>aTc	p.T360I	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.T392I|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.T392I|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.T392I	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	392					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CCATTCTCCACCCTGGACCTG	0.657000													20	38					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81545553	81545553	+	Translation_Start_Site	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:81545553G>A	ENST00000548324.1	+	0	124				ACSS3_ENST00000261206.3_Intron|ACSS3_ENST00000548058.1_Intron			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3							mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTTTAAAGTGGATGCTATGAA	0.328000													7	10					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512998	69512998	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:69512998C>T	ENST00000338206.5	-	6	1426	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	473					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TGCTTGGCTCCTTTGTGGCGC	0.483000													61	81					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189890	124189890	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:124189890G>A	ENST00000357438.2	-	1	294	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		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;0.0525)		AGAGATCAATGAAAGACAAAT	0.418000													38	45					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94505629	94505629	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:94505629C>T	ENST00000370225.3	-	24	3663	c.3577G>A	c.(3577-3579)Gat>Aat	p.D1193N		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1193					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTTAGGTCATCGACGTGGGCT	0.562000											OREG0013610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	9					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540267	96540267	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:96540267G>A	ENST00000371321.3	+	4	575	c.493G>A	c.(493-495)Gat>Aat	p.D165N	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	165					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTCACCCTGTGATCCCACTTT	0.318000													47	92					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157000165	157000165	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:157000165C>T	ENST00000348165.5	+	12	1852	c.1492C>T	c.(1492-1494)Cca>Tca	p.P498S		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	498					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCGAATCATCCCACTCTTTTA	0.358000													26	41					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70955078	70955078	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:70955078C>T	ENST00000393567.2	-	46	7351	c.7201G>A	c.(7201-7203)Gaa>Aaa	p.E2401K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2401										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTTCCTTTCGATTGTCTCC	0.428000													36	44					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026207	79026207	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:79026207C>T	ENST00000446378.2	+	2	1650	c.1619C>T	c.(1618-1620)cCa>cTa	p.P540L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	540	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCAGAAAGCCCATTGGTTTCC	0.428000													73	92					0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60050595	60050595	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:60050595C>T	ENST00000505959.1	-	11	1189	c.663G>A	c.(661-663)caG>caA	p.Q221Q	ELOVL7_ENST00000438340.1_Silent_p.Q234Q|ELOVL7_ENST00000508821.1_Silent_p.Q234Q|ELOVL7_ENST00000425382.1_Silent_p.Q234Q			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	234					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AGACTGGAAACTGATACTTGC	0.393000													22	31					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17489585	17489585	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:17489585G>A	ENST00000377873.3	-	5	723	c.684C>T	c.(682-684)ggC>ggT	p.G228G	BFSP1_ENST00000377868.2_Silent_p.G103G|BFSP1_ENST00000536626.1_Silent_p.G89G|BFSP1_ENST00000544874.1_Silent_p.G89G	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	228	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GCACCTCCCGGCCCTCCTCCA	0.637000													6	8					0	0	1	0	0
HSFY1P1	27437	broad.mit.edu	37	22	17309905	17309905	+	RNA	SNP	T	T	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:17309905T>C	ENST00000425038.1	+	0	1061					NR_003607.1																						TCTCCCTCCTTTGGGGCTGAT	0.448000													11	2					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45289408	45289408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr22:45289408G>A	ENST00000313237.5	-	7	1039	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	PHF21B_ENST00000404079.2_Nonsense_Mutation_p.Q243*|PHF21B_ENST00000403565.1_Nonsense_Mutation_p.Q93*|PHF21B_ENST00000447824.3_Nonsense_Mutation_p.Q243*|PHF21B_ENST00000396103.3_Nonsense_Mutation_p.Q255*	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	297							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CGCTTGCTCTGGATTTCTGGA	0.622000													2	2					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768768	57768768	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:57768768G>A	ENST00000371030.2	+	1	2694	c.2694G>A	c.(2692-2694)ggG>ggA	p.G898G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	898						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGAGGGTGGGGCCAAGGGACA	0.672000													15	24					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33608898	33608898	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:33608898C>T	ENST00000170564.2	+	16	2678	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	788						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGGCCAACTTCCAAAGCTCCC	0.507000													32	38					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130412058	130412058	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:130412058C>T	ENST00000370904.1	-	19	2975	c.2065G>A	c.(2065-2067)Gaa>Aaa	p.E689K	IGSF1_ENST00000370903.3_Missense_Mutation_p.E703K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E689K|IGSF1_ENST00000361420.3_Missense_Mutation_p.E698K			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	698	Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTTGTAGTTCCTGGCCCCGG	0.527000													39	8					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583644	179583644	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:179583644G>A	ENST00000589042.1	-	84	24507	c.24283C>T	c.(24283-24285)Ctc>Ttc	p.L8095F	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.L7778F|TTN_ENST00000342992.6_Missense_Mutation_p.L6851F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7778	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAATGTGAGGCTCATTCCA	0.478000													14	10					0	0	1	0	0
C12orf42	374470	broad.mit.edu	37	12	103762668	103762668	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:103762668G>A	ENST00000548048.1	-	7	551	c.55C>T	c.(55-57)Cca>Tca	p.P19S	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.P86S|C12orf42_ENST00000378113.2_Missense_Mutation_p.P86S|C12orf42_ENST00000315192.8_Missense_Mutation_p.P86S			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	86										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AATTTACCTGGAAAATTCAGA	0.338000													6	0					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803770	142803770	+	RNA	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:142803770C>T	ENST00000423385.1	-	0	1195																											gcctcatgatcccatagttaa	0.383000													4	10					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55713462	55713462	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:55713462C>T	ENST00000376350.3	-	6	1137	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	PTPRH_ENST00000263434.5_Missense_Mutation_p.G194E|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	372	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCTGTTGATTCCATTCTTCCC	0.502000													47	72					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162719515	162719515	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:162719515C>T	ENST00000375514.5	+	7	1029	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C	SLC4A10_ENST00000415876.2_Missense_Mutation_p.R237C|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R237C|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R237C|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R237C|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.R237C	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	237					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCCCATTGTTCGTTCCTTTGC	0.383000													13	26					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10363347	10363347	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:10363347G>A	ENST00000255381.2	-	14	1448	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	446	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGCTGGTTGATGCGGGTGA	0.483000													104	14					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70594480	70594480	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:70594480C>T	ENST00000260126.3	-	7	2427	c.1721G>A	c.(1720-1722)gGa>gAa	p.G574E	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G519E|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G574E	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	574	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GTATGTAATTCCATCTGATCC	0.433000													44	48					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077007	9077007	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:9077007C>T	ENST00000397910.4	-	3	10642	c.10439G>A	c.(10438-10440)gGa>gAa	p.G3480E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3481	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTGTTTTTCCTCCTGAGGG	0.488000													15	40					0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97791667	97791667	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:97791667C>T	ENST00000344386.3	+	9	1035	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	ENTPD1-AS1_ENST00000416301.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.P370S|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000371198.2_3'UTR	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	291										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TGCTGAATTTCCCCAGACAGA	0.388000													60	67					0	0	1	0	0
AQP12A	375318	broad.mit.edu	37	2	241631368	241631368	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:241631368C>T	ENST00000429564.1	+	1	101	c.38C>T	c.(37-39)gCc>gTc	p.A13V	AQP12A_ENST00000337801.4_Missense_Mutation_p.A13V			Q8IXF9	AQ12A_HUMAN	aquaporin 12A	13						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TTCTTCTTTGCCACCTTCGCC	0.682000													20	85					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26315366	26315366	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:26315366C>T	ENST00000265944.5	+	10	1024	c.858C>T	c.(856-858)ttC>ttT	p.F286F	MYO3A_ENST00000543632.1_Silent_p.F286F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	286	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCATAAATTCATTACTCAAA	0.378000													9	23					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167894950	167894950	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:167894950C>T	ENST00000265293.4	+	22	3758	c.3256C>T	c.(3256-3258)Cca>Tca	p.P1086S	WWC1_ENST00000521089.1_Missense_Mutation_p.P1092S	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1086	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TAAGGAACCCCCAGAAGTTCA	0.587000													17	46					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19475128	19475128	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:19475128G>A	ENST00000396229.2	+	8	2016	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	TMC5_ENST00000541464.1_Missense_Mutation_p.E423K|TMC5_ENST00000381414.4_Missense_Mutation_p.E423K|TMC5_ENST00000542583.2_Missense_Mutation_p.E423K|TMC5_ENST00000564959.1_Missense_Mutation_p.E106K|TMC5_ENST00000219821.5_Missense_Mutation_p.E177K|TMC5_ENST00000561503.1_Missense_Mutation_p.E64K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	423						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGCCTGTCGGAAATTCTGAA	0.478000													35	37					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14722538	14722538	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:14722538C>T	ENST00000380911.3	-	1	177	c.133G>A	c.(133-135)Ggc>Agc	p.G45S		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	45					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TCATGGTTGCCTGTGGGAAGC	0.572000													43	8					0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138290150	138290150	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:138290150C>T	ENST00000264982.3	-	4	384	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	CEP70_ENST00000542237.1_Missense_Mutation_p.G20S|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Missense_Mutation_p.G40S|CEP70_ENST00000481834.1_Missense_Mutation_p.G40S|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000464035.1_Missense_Mutation_p.G40S	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	40					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GGTTTTAAGCCATGCATCATC	0.313000													13	24					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39502952	39502952	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:39502952T>A	ENST00000265707.5	+	11	1050	c.1005T>A	c.(1003-1005)tgT>tgA	p.C335*	ADAM18_ENST00000379866.1_Nonsense_Mutation_p.C311*|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	335	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCACTCAGTGTTTCTGTCTGA	0.333000													20	28					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17226675	17226675	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:17226675G>A	ENST00000253692.7	-	19	3442	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	TBC1D5_ENST00000429383.4_Missense_Mutation_p.S593F|TBC1D5_ENST00000429924.2_Missense_Mutation_p.S567F|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S615F	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	593						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTGAAGGAAGGAAATTTGGGC	0.368000													26	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179586714	179586714	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:179586714C>T	ENST00000589042.1	-	78	22900	c.22676G>A	c.(22675-22677)gGa>gAa	p.G7559E	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7242E|TTN_ENST00000342992.6_Missense_Mutation_p.G6315E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7242	Ig-like 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATAGTTTCCTCCAGGACG	0.418000													81	110					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147092545	147092545	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:147092545C>T	ENST00000234739.3	+	8	3324	c.2584C>T	c.(2584-2586)Cct>Tct	p.P862S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	862	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGGCATTAACCCTCTGAAGTC	0.617000			T	"""IGH@, IGL@"""	B-ALL								46	48					0	0	1	0	0
OSER1	51526	broad.mit.edu	37	20	42826004	42826004	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:42826004G>A	ENST00000372970.2	-	6	747	c.567C>T	c.(565-567)tcC>tcT	p.S189S	OSER1_ENST00000255174.2_Silent_p.S189S					oxidative stress responsive serine-rich 1																		GGTTTAGCTTGGAAACTGATT	0.493000													51	65					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53038693	53038693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:53038693C>A	ENST00000276480.7	-	23	3357	c.2674G>T	c.(2674-2676)Gga>Tga	p.G892*		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	892						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGAGGACATCCAGATAAGCTG	0.348000													4	62					0.150653	0.150653	1	1	0
ATRNL1	26033	broad.mit.edu	37	10	117221504	117221504	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:117221504C>T	ENST00000355044.3	+	22	3502	c.3376C>T	c.(3376-3378)Cgc>Tgc	p.R1126C	ATRNL1_ENST00000423111.2_Missense_Mutation_p.R177C|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1126						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGAAGATGATCGCCACCATAC	0.313000													21	27					0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77232127	77232127	+	Silent	SNP	T	T	C			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:77232127T>C	ENST00000248248.3	+	6	1916	c.1566T>C	c.(1564-1566)cgT>cgC	p.R522R	MON1B_ENST00000439557.2_Silent_p.R413R|MON1B_ENST00000545553.1_Silent_p.R376R	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	522							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TCTTCATTCGTTACCCACCCA	0.557000													68	97					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91308570	91308570	+	Missense_Mutation	SNP	C	C	T	rs146077918	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:91308570C>T	ENST00000355112.3	+	9	2237	c.2119C>T	c.(2119-2121)Cct>Tct	p.P707S	BLM_ENST00000560509.1_Missense_Mutation_p.P707S|BLM_ENST00000560136.1_Intron	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	707	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTGTGTTTCTCCTGGGGTCAC	0.393000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				29	48					0	0	1	0	0
AACSP1	729522	broad.mit.edu	37	5	178194175	178194175	+	RNA	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:178194175C>T	ENST00000503486.2	-	0	1462					NR_024035.1																						AGGTTTCCATCCTCCCTGTGC	0.587000													4	8					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25399799	25399799	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:25399799G>A	ENST00000255324.5	+	16	2186	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	RNF17_ENST00000381921.1_Missense_Mutation_p.E712K	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	712					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		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)		GACAATCGAGGAATTCTATAA	0.353000													38	49					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141243	114141243	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:114141243C>T	ENST00000371950.3	+	6	1271	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	HTR2C_ENST00000371951.1_Silent_p.F214F|HTR2C_ENST00000276198.1_Silent_p.F214F	NM_001256761.1	NP_001243690.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	0					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCCAAATTTCGTTCTTATTG	0.468000													162	15					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58563908	58563908	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:58563908G>A	ENST00000282326.1	+	5	763	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	172					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CACTCCCCGAGGAAAGTGAGT	0.647000													15	27					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197298087	197298087	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:197298087A>T	ENST00000260983.2	-	2	243	c.61T>A	c.(61-63)Tac>Aac	p.Y21N		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	21					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCAATGTGTACCGCATCTGG	0.597000													29	36					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99338451	99338451	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:99338451C>T	ENST00000376503.5	-	22	1983	c.1928G>A	c.(1927-1929)aGc>aAc	p.S643N		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	643					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TACCTGTTTGCTGAACTGGCC	0.552000													10	6					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508588	24508588	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:24508588C>T	ENST00000376454.3	+	2	134	c.104C>T	c.(103-105)cCa>cTa	p.P35L	KIAA1217_ENST00000458595.1_Missense_Mutation_p.P35L|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P35L|KIAA1217_ENST00000376462.1_5'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	35					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTAACATCACCAGAAGATGCA	0.433000													16	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597691	179597691	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:179597691C>T	ENST00000589042.1	-	55	16436	c.16212G>A	c.(16210-16212)agG>agA	p.R5404R	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.R5087R|TTN_ENST00000342992.6_Silent_p.R4160R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5087	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATGCTATCCTGTATCTGT	0.483000													16	26					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865454	118865454	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:118865454G>A	ENST00000295622.1	+	1	458	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	140										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CCTGACGGAGGAAAGAACTGC	0.478000													21	41					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190719754	190719754	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:190719754C>T	ENST00000441310.2	+	9	1989	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	PMS1_ENST00000418224.3_Missense_Mutation_p.R410C|PMS1_ENST00000447232.2_Missense_Mutation_p.R586C|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.R410C|PMS1_ENST00000409823.3_Missense_Mutation_p.R547C	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	586					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCAAGATCATCGTCCTCAGTT	0.348000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					33	43					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14865891	14865891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:14865891G>A	ENST00000315576.3	-	14	1916	c.1465C>T	c.(1465-1467)Cag>Tag	p.Q489*	EMR2_ENST00000595839.1_Nonsense_Mutation_p.Q347*|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000601345.1_Nonsense_Mutation_p.Q478*|EMR2_ENST00000596991.2_Nonsense_Mutation_p.Q478*|EMR2_ENST00000353005.1_Nonsense_Mutation_p.Q347*|EMR2_ENST00000594076.1_Nonsense_Mutation_p.Q396*|EMR2_ENST00000346057.1_Nonsense_Mutation_p.Q440*|EMR2_ENST00000594294.1_Nonsense_Mutation_p.Q440*|EMR2_ENST00000392964.3_Missense_Mutation_p.P153L|EMR2_ENST00000353876.1_Nonsense_Mutation_p.Q396*|EMR2_ENST00000392967.2_Nonsense_Mutation_p.Q478*	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	489	GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CATCCATTCTGGCCATGCTCC	0.587000													33	42					0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820240	179820240	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:179820240C>T	ENST00000367612.3	-	4	680	c.293G>A	c.(292-294)gGa>gAa	p.G98E		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	98						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						ATGCCCTTTTCCGCCATCCAG	0.453000													27	39					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41960402	41960402	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:41960402C>T	ENST00000269095.4	-	5	626	c.322G>A	c.(322-324)Gac>Aac	p.D108N	MPP2_ENST00000536246.1_Missense_Mutation_p.D97N|MPP2_ENST00000523501.1_Missense_Mutation_p.D97N|MPP2_ENST00000518766.1_Missense_Mutation_p.D153N|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000461854.1_Missense_Mutation_p.D132N|MPP2_ENST00000377184.3_Missense_Mutation_p.D125N|MPP2_ENST00000520305.1_5'UTR	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	132	L27 2.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GCCACAGAGTCGTGCGTCTCC	0.622000													14	5					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62985192	62985192	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:62985192G>A	ENST00000403374.2	-	4	327	c.24C>T	c.(22-24)ttC>ttT	p.F8F	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000306494.6_Silent_p.F174F|SLC22A10_ENST00000525620.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	174					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						ATCTGAGCACGAACTTTCTCC	0.498000													18	35					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34543178	34543178	+	Silent	SNP	A	A	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:34543178A>G	ENST00000354181.3	-	11	1906	c.1414T>C	c.(1414-1416)Tta>Cta	p.L472L	SLC12A6_ENST00000558667.1_Silent_p.L472L|SLC12A6_ENST00000397702.2_Silent_p.L413L|SLC12A6_ENST00000451844.2_Silent_p.L284L|SLC12A6_ENST00000558589.1_Silent_p.L463L|SLC12A6_ENST00000397707.2_Silent_p.L457L|SLC12A6_ENST00000560164.1_Silent_p.L284L|SLC12A6_ENST00000458406.2_Silent_p.L413L|SLC12A6_ENST00000290209.5_Silent_p.L421L|SLC12A6_ENST00000560611.1_Silent_p.L472L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	472					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCATGGTTTAAGCTGCCTAAG	0.433000													36	40					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089701	57089701	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:57089701C>T	ENST00000330619.8	+	6	2590	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.S635F	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CATCGTAAATCCCTTACTCTG	0.423000													25	46					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650469	55650469	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chrX:55650469C>T	ENST00000339140.3	+	1	637	c.325C>T	c.(325-327)Cct>Tct	p.P109S		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	109					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAACATTTCTCCTTTCCCTCA	0.532000													20	3					0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174868996	174868996	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:174868996C>T	ENST00000393752.2	-	2	2099	c.1107G>A	c.(1105-1107)gcG>gcA	p.A369A		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	369					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TGGAAAACATCGCGGCCCCAT	0.498000													48	56					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36365505	36365505	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:36365505G>A	ENST00000221891.4	+	9	1348	c.1156G>A	c.(1156-1158)Gac>Aac	p.D386N	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Missense_Mutation_p.D380N|APLP1_ENST00000537454.2_Missense_Mutation_p.D347N	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	386					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTTATCAACGACCAGCGCCG	0.662000													42	48					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94069764	94069764	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:94069764C>T	ENST00000553484.1	+	26	3908	c.3754_splice	c.e26+1	p.P1252_splice	UNC79_ENST00000393151.2_Splice_Site_p.R1252_splice|UNC79_ENST00000256339.4_Splice_Site_p.R1075_splice|UNC79_ENST00000555664.1_Splice_Site_p.R1252_splice			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1252						integral to membrane		p.P1252S(1)|p.R1075*(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCCAAAATTCGTTGAGTATC	0.473000													29	3					0	0	1	0	0
SPINT4	391253	broad.mit.edu	37	20	44351017	44351017	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:44351017C>T	ENST00000279058.3	+	1	28	c.11C>T	c.(10-12)gCc>gTc	p.A4V		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	4						extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				ATGAAGTCTGCCAAGCTGGGA	0.448000													38	43					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034811	16034811	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:16034811C>T	ENST00000326742.7	-	6	730	c.729G>A	c.(727-729)acG>acA	p.T243T	CYP4F11_ENST00000402119.3_Silent_p.T243T|CYP4F11_ENST00000248041.7_Silent_p.T243T			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	243					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ACAGGAAGTCCGTGTGCAAGA	0.542000													50	58					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115754795	115754795	+	Missense_Mutation	SNP	A	A	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:115754795A>G	ENST00000264363.2	-	12	3041	c.2363T>C	c.(2362-2364)gTt>gCt	p.V788A		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	788	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACGAGGTGTAACTCCCAGAAA	0.388000													25	31					0	0	1	0	0
ZNF428	126299	broad.mit.edu	37	19	44111830	44111830	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:44111830G>A	ENST00000300811.3	-	3	952	c.506C>T	c.(505-507)tCc>tTc	p.S169F	SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	169						intracellular	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				GTTGTCGAAGGAATCCTCACA	0.652000													13	22					0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64727379	64727379	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:64727379C>T	ENST00000557772.1	-	4	739	c.740G>A	c.(739-741)aGa>aAa	p.R247K	ESR2_ENST00000555278.1_Missense_Mutation_p.R247K|ESR2_ENST00000267525.6_Missense_Mutation_p.R247K|ESR2_ENST00000341099.4_Missense_Mutation_p.R247K|ESR2_ENST00000553796.1_Missense_Mutation_p.R247K|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Missense_Mutation_p.R247K|ESR2_ENST00000542956.1_Missense_Mutation_p.R247K|ESR2_ENST00000358599.5_Missense_Mutation_p.R247K|ESR2_ENST00000353772.3_Missense_Mutation_p.R247K|ESR2_ENST00000357782.2_Missense_Mutation_p.R247K	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	247	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GCCGCCACTTCTCTTGGCCTT	0.667000													41	4					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78774080	78774080	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:78774080G>A	ENST00000545128.1	+	12	2150	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	PCSK5_ENST00000376752.4_Missense_Mutation_p.A538T|PCSK5_ENST00000376767.3_Missense_Mutation_p.A538T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	538	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCAGCTTTTGGCCAACAGGTA	0.567000													14	32					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503683	40503683	+	Missense_Mutation	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr18:40503683C>T	ENST00000589109.1	-	4	451	c.280G>A	c.(280-282)Ggc>Agc	p.G94S	RIT2_ENST00000326695.5_Missense_Mutation_p.G94S|RIT2_ENST00000282028.4_Missense_Mutation_p.G94S|RIT2_ENST00000590910.1_Silent_p.K114K	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	94					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGATGAAGCCTTCCCCACCT	0.433000													126	150					0	0	1	0	0
MTO1	25821	broad.mit.edu	37	6	74183275	74183275	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:74183275C>T	ENST00000498286.1	+	4	1000	c.723C>T	c.(721-723)ccC>ccT	p.P241P	MTO1_ENST00000370300.4_Silent_p.P241P|MTO1_ENST00000370305.1_Silent_p.P167P|MTO1_ENST00000415954.2_Silent_p.P241P			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	241					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GGACTCCACCCCGAATTGCCA	0.448000													31	40					0	0	1	0	0
POTEA	340441	broad.mit.edu	37	8	43147866	43147866	+	RNA	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:43147866G>A	ENST00000522175.2	+	0	241							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAAGTCCCCAGAGCGGATCTC	0.612000													31	49					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304276	10304276	+	Splice_Site	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:10304276C>T	ENST00000403437.2	-	26	3349	c.3254_splice	c.e26-1	p.K1085_splice	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1085					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAAATTCTTTCCTTTAGACAG	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				26	7					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98155087	98155087	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr10:98155087G>A	ENST00000357947.3	-	13	1808	c.1583C>T	c.(1582-1584)cCc>cTc	p.P528L	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	528	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTCTTCCGTGGGGCCATCCCG	0.512000													36	50					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1560740	1560740	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:1560740C>T	ENST00000357210.4	+	7	1186	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	MIB2_ENST00000518681.1_Silent_p.L316L|MIB2_ENST00000504599.1_Silent_p.L280L|MIB2_ENST00000520777.1_Silent_p.L381L|MIB2_ENST00000378708.1_Silent_p.L266L|MIB2_ENST00000378710.3_Silent_p.L324L|MIB2_ENST00000378712.1_Silent_p.L201L|MIB2_ENST00000505820.2_Silent_p.L381L|MIB2_ENST00000360522.4_Silent_p.L324L|MIB2_ENST00000355826.5_Silent_p.L367L	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	324					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTCAAGTGTCTGCTGGACAC	0.692000													4	5					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354595	17354595	+	RNA	SNP	C	C	G			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:17354595C>G	ENST00000511821.1	+	0	454				FTH1P10_ENST00000401830.3_RNA																							GGAGCGGCGGCGGGGGCCTTG	0.711000													9	7					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039611	2039611	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:2039611C>T	ENST00000382203.1	+	4	710	c.501C>T	c.(499-501)ccC>ccT	p.P167P	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.P167P|SMARCA2_ENST00000349721.2_Silent_p.P167P|SMARCA2_ENST00000382194.1_Silent_p.P167P			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	167					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGAGCCAGCCCAACAGAGGTC	0.602000													40	9					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371965	76371965	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:76371965G>A	ENST00000407242.2	-	3	914	c.672C>T	c.(670-672)gaC>gaT	p.D224D	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Silent_p.D224D|LRRC32_ENST00000404995.1_Silent_p.D224D	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	224						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGCAGCTCAGGTCTAGCACCC	0.617000													29	38					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52132701	52132701	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:52132701G>A	ENST00000222107.4	-	3	748	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S	SIGLEC5_ENST00000534261.2_Missense_Mutation_p.P204S|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.P204S|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.P204S|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.P204S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	204	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGGTCCTCGGGCCTGGGGGTG	0.627000													24	30					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128410977	128410977	+	Silent	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:128410977G>A	ENST00000368227.3	-	8	1689	c.1323C>T	c.(1321-1323)gaC>gaT	p.D441D	PTPRK_ENST00000368226.4_Silent_p.D441D|PTPRK_ENST00000368207.3_Silent_p.D441D|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Silent_p.D441D|PTPRK_ENST00000368215.3_Silent_p.D441D|PTPRK_ENST00000368213.5_Silent_p.D441D|PTPRK_ENST00000532331.1_Silent_p.D441D			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	441	Fibronectin type-III 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGTCCAAACAGTCTGCCTTGC	0.478000													43	70					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30128370	30128370	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:30128370G>A	ENST00000449742.2	-	1	341	c.266C>T	c.(265-267)tCc>tTc	p.S89F	TRIM10_ENST00000376704.3_Missense_Mutation_p.S89F	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	89						cytoplasm	zinc ion binding			ovary(1)	1						ACCCAGTGTGGACACCAGCTG	0.572000													220	79					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027835	55027835	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:55027835G>A	ENST00000371336.3	+	5	1804	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	CASS4_ENST00000360314.3_Missense_Mutation_p.E535K|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	535					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGAAACAAAGGAAAGCTTGGA	0.498000													21	34					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81249962	81249962	+	Missense_Mutation	SNP	A	A	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:81249962A>T	ENST00000599697.1	-	2	350	c.351T>A	c.(349-351)caT>caA	p.H117Q	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	117	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTGCCCTCCATGCCAGTTGC	0.622000													33	47					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70866590	70866590	+	Missense_Mutation	SNP	G	G	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:70866590G>T	ENST00000322773.4	+	34	2369	c.2267G>T	c.(2266-2268)gGg>gTg	p.G756V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G378V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	756	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGCTACCCTGGGATACCTGGG	0.373000													8	14					0.00621372	0.00622349	1	1	0
COL9A1	1297	broad.mit.edu	37	6	70966482	70966482	+	Missense_Mutation	SNP	G	G	A			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:70966482G>A	ENST00000357250.6	-	21	1650	c.1492C>T	c.(1492-1494)Cct>Tct	p.P498S	COL9A1_ENST00000320755.7_Missense_Mutation_p.P255S|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.P255S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	498	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGTGCACCAGGAAGACCCTGA	0.403000													8	23					0	0	1	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140734911	140734911	+	Silent	SNP	C	C	T			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:140734911C>T	ENST00000571252.1	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCAACATCGCCAAGGACC	0.627000													33	49					0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85418151	85418153	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:85418151_85418153delATG	ENST00000370608.3	-	5	693_695	c.626_628delCAT	c.(625-630)ttc>t	p.SF209del	MCOLN2_ENST00000284027.5_In_Frame_Del_p.SF181del|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	209						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AGTCTGAAGAATGATGAGTTCTT	0.384													20	55	---	---	---	---					
RPL5	6125	broad.mit.edu	37	1	93299169	93299170	+	Frame_Shift_Ins	INS	-	-	AAAT	rs150375325	byFrequency	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:93299169_93299170insAAAT	ENST00000370321.3	+	3	231_232	c.141_142insAAAT	c.(139-144)ccaatafs	p.I48fs		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	48					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		ACAACACACCCAAATACAGGAT	0.332													33	35	---	---	---	---					
ITGA10	8515	broad.mit.edu	37	1	145528605	145528606	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr1:145528605_145528606delCT	ENST00000369304.3	+	5	577_578	c.402_403delCT	c.(400-405)agctfs	p.SS134fs	ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	134					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.S135P(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGTGGCAGCTCTGTCTTCAG	0.594													34	50	---	---	---	---					
TMEM18	129787	broad.mit.edu	37	2	669616	669617	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:669616_669617delTC	ENST00000281017.3	-	5	479_480	c.386_387delGA	c.(385-387)afs	p.R130fs	TMEM18_ENST00000405941.3_Frame_Shift_Del_p.R133fs|TMEM18_ENST00000355654.2_Frame_Shift_Del_p.R117fs	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	130					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		tttcctttcttctctcttGTGC	0.450													12	28	---	---	---	---					
EIF2AK2	5610	broad.mit.edu	37	2	37347186	37347187	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:37347186_37347187delTT	ENST00000233057.4	-	13	1485_1486	c.1163_1164delAA	c.(1162-1164)afs	p.K388fs	EIF2AK2_ENST00000395127.2_Frame_Shift_Del_p.K388fs|EIF2AK2_ENST00000405334.1_Frame_Shift_Del_p.K347fs	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	388	Protein kinase.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AAGCCAAAACTTTGTCTAGTTT	0.347													15	28	---	---	---	---					
MAP4K4	9448	broad.mit.edu	37	2	102504379	102504380	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:102504379_102504380delGA	ENST00000413150.2	+	27	3276_3277	c.3221_3222delGA	c.(3220-3222)gfs	p.G1074fs	MAP4K4_ENST00000302217.5_Frame_Shift_Del_p.G962fs|MAP4K4_ENST00000350878.4_Frame_Shift_Del_p.G1199fs|MAP4K4_ENST00000456652.1_Frame_Shift_Del_p.G958fs|MAP4K4_ENST00000425019.1_Frame_Shift_Del_p.G1192fs|MAP4K4_ENST00000347699.4_Frame_Shift_Del_p.G1159fs|MAP4K4_ENST00000324219.4_Frame_Shift_Del_p.G1240fs|MAP4K4_ENST00000350198.4_Frame_Shift_Del_p.G1086fs	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1159	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTACAGTGGGGAGAGATGCCTA	0.441													35	105	---	---	---	---					
R3HDM1	23518	broad.mit.edu	37	2	136389537	136389538	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:136389537_136389538delTC	ENST00000264160.4	+	9	1034_1035	c.664_665delTC	c.(664-666)tfs	p.S222fs	R3HDM1_ENST00000329971.3_Frame_Shift_Del_p.S178fs|R3HDM1_ENST00000409606.1_Frame_Shift_Del_p.S222fs|R3HDM1_ENST00000410054.1_Frame_Shift_Del_p.S166fs|R3HDM1_ENST00000409478.1_Frame_Shift_Del_p.S178fs	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	222	R3H.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GAGTGGGAAGTCTGTCATAGTA	0.327													43	79	---	---	---	---					
HOXD8	3234	broad.mit.edu	37	2	176996093	176996094	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr2:176996093_176996094delCT	ENST00000313173.4	+	2	1253_1254	c.626_627delCT	c.(625-627)afs	p.T209fs	HOXD8_ENST00000544999.1_Frame_Shift_Del_p.T208fs|HOXD8_ENST00000429017.1_Frame_Shift_Del_p.T25fs|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Frame_Shift_Del_p.T105fs|HOXD8_ENST00000450510.2_Frame_Shift_Del_p.T208fs	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	209					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGCTTCCAAACTCTAGAGTTGG	0.416													80	129	---	---	---	---					
ARL13B	200894	broad.mit.edu	37	3	93768262	93768263	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr3:93768262_93768263delAG	ENST00000535334.1	+	7	1251_1252	c.728_729delAG	c.(727-729)afs	p.K244fs	ARL13B_ENST00000539730.1_Frame_Shift_Del_p.K68fs|ARL13B_ENST00000394222.3_Frame_Shift_Del_p.K347fs|ARL13B_ENST00000303097.7_Frame_Shift_Del_p.K240fs|ARL13B_ENST00000471138.1_Frame_Shift_Del_p.K347fs|DHFRL1_ENST00000481631.1_Intron	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	347							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AATGGTAAAAAGAAAACTAAGA	0.366													8	25	---	---	---	---					
C4orf21	55345	broad.mit.edu	37	4	113506804	113506815	+	In_Frame_Del	DEL	TATAAAATGATA	TATAAAATGATA	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:113506804_113506815delTATAAAATGATA	ENST00000505019.1	-	14	4108_4119	c.3983_3994delTATCATTTTATA	c.(3982-3996)aca>a	p.ISFYT1328del		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTCAATGATGTATAAAATGATATGTCAACTTT	0.335													14	23	---	---	---	---					
DDX60	55601	broad.mit.edu	37	4	169169387	169169388	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr4:169169387_169169388delCA	ENST00000393743.3	-	29	4205_4206	c.3914_3915delTG	c.(3913-3915)gfs	p.V1306fs		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1306	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GAGCAAAAACCACAGATTTACA	0.347													20	43	---	---	---	---					
SEC24A	10802	broad.mit.edu	37	5	133997226	133997228	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr5:133997226_133997228delAAT	ENST00000398844.2	+	2	803_805	c.515_517delAAT	c.(514-519)cat>c	p.QY172del	SEC24A_ENST00000322887.4_In_Frame_Del_p.QY172del	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	172	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAAATCATCAATATGTTTCTTC	0.345													30	55	---	---	---	---					
HIVEP1	3096	broad.mit.edu	37	6	12121702	12121703	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:12121702_12121703delAG	ENST00000379388.2	+	4	2006_2007	c.1674_1675delAG	c.(1672-1677)acagfs	p.TE558fs		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	558					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAGCTGTGACAGAGTTACCGAA	0.446													15	56	---	---	---	---					
DOPEY1	23033	broad.mit.edu	37	6	83869530	83869531	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:83869530_83869531delTG	ENST00000349129.2	+	37	7073_7074	c.6813_6814delTG	c.(6811-6816)tctgfs	p.SV2271fs	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.SV2155fs|DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.SV2262fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2271					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAGGGCCCTCTGTGGCTGGTCT	0.465													23	67	---	---	---	---					
CYB5R4	51167	broad.mit.edu	37	6	84627749	84627750	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr6:84627749_84627750delAG	ENST00000369681.4	+	6	611_612	c.471_472delAG	c.(469-474)acatfs	p.TD157fs		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	157					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		GCCAAGTGACAGATACACTTGC	0.287													33	50	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100374056	100374057	+	RNA	DEL	CG	CG	-	rs144430258	by1000genomes	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr7:100374056_100374057delCG	ENST00000542585.1	+	0	6337				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACTCTCCCCCGCCAGGTCTGC	0.510													2	4	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	12943882	12943882	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr8:12943882delA	ENST00000276297.4	-	17	4792	c.4383delT	c.(4381-4383)gtfs	p.V1461fs	DLC1_ENST00000358919.2_Frame_Shift_Del_p.V1024fs|DLC1_ENST00000520226.1_Frame_Shift_Del_p.V950fs|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000512044.2_Frame_Shift_Del_p.V1058fs	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1461	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGAGCACATTAACCCTCACAC	0.478													60	54	---	---	---	---					
PSIP1	11168	broad.mit.edu	37	9	15472710	15472711	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:15472710_15472711delTC	ENST00000380733.4	-	10	1239_1240	c.896_897delGA	c.(895-897)afs	p.R300fs	PSIP1_ENST00000380738.4_Frame_Shift_Del_p.R300fs|PSIP1_ENST00000380716.4_Frame_Shift_Del_p.R300fs|PSIP1_ENST00000397519.2_Frame_Shift_Del_p.R300fs|PSIP1_ENST00000380715.1_Frame_Shift_Del_p.R300fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	300					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GCATATTCCTTCTGTGAGCAGT	0.371													55	10	---	---	---	---					
ABL1	25	broad.mit.edu	37	9	133760887	133760888	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr9:133760887_133760888delTG	ENST00000318560.5	+	11	3591_3592	c.3210_3211delTG	c.(3208-3213)tatgfs	p.YV1070fs		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	1070	F-actin-binding.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCGTGAGCTATGTGGATTCCAT	0.564			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								40	71	---	---	---	---					
OR4A15	81328	broad.mit.edu	37	11	55136178	55136179	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr11:55136178_55136179delTG	ENST00000314706.3	+	1	819_820	c.819_820delTG	c.(817-822)actgfs	p.TV273fs		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCCACGTCACTGTGGTCATTTT	0.401													63	142	---	---	---	---					
PHB2	11331	broad.mit.edu	37	12	7077150	7077151	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr12:7077150_7077151delCT	ENST00000535923.1	-	5	792_793	c.511_512delAG	c.(511-513)gfs	p.R171fs	PHB2_ENST00000542912.1_Frame_Shift_Del_p.R171fs|PHB2_ENST00000440277.1_Frame_Shift_Del_p.R171fs|PHB2_ENST00000399433.2_Frame_Shift_Del_p.R171fs|PHB2_ENST00000546111.1_Intron	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	171	Necessary for transcriptional repression.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						GTCCTTGGCCCTCTCTGTCAGC	0.579													29	93	---	---	---	---					
MRPS31	10240	broad.mit.edu	37	13	41341131	41341132	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr13:41341131_41341132delCT	ENST00000323563.6	-	2	226_227	c.190_191delAG	c.(190-192)tfs	p.S64fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	64						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		ACAGATCACACTGTTAGTGCCA	0.342													7	68	---	---	---	---					
LOC642426	642426	broad.mit.edu	37	14	19408019	19408019	+	RNA	DEL	A	A	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr14:19408019delA	ENST00000548050.1	-	0	279					NR_046104.1																						CTGTGGAGCCAAAAAAAAAAT	0.393													2	4	---	---	---	---					
SPINT1	6692	broad.mit.edu	37	15	41146652	41146653	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:41146652_41146653delAC	ENST00000344051.4	+	7	1280_1281	c.1046_1047delAC	c.(1045-1047)gfs	p.D349fs	SPINT1_ENST00000431806.1_Frame_Shift_Del_p.D333fs|SPINT1_ENST00000562057.1_Frame_Shift_Del_p.D333fs			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	349	LDL-receptor class A.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGCTGCATCGACAGTTTCCTGG	0.614													35	45	---	---	---	---					
CDAN1	146059	broad.mit.edu	37	15	43028089	43028090	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr15:43028089_43028090delTC	ENST00000356231.3	-	3	779_780	c.756_757delGA	c.(754-759)gatgfs	p.EM252fs		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	252						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TTCCTGAGCATCTCTCGCTCCT	0.589													42	44	---	---	---	---					
CTRL	1506	broad.mit.edu	37	16	67964690	67964692	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:67964690_67964692delACA	ENST00000574481.1	-	4	816_818	c.255_257delTGT	c.(253-258)gtc>gt	p.VV85del	CTRL_ENST00000576408.1_5'UTR	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	85	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CTCGCCCAGGACAACAAAATGGC	0.635													37	58	---	---	---	---					
CMTR2	55783	broad.mit.edu	37	16	71318700	71318701	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr16:71318700_71318701delAT	ENST00000338099.5	-	3	1459_1460	c.1123_1124delAT	c.(1123-1125)tfs	p.I375fs	FTSJD1_ENST00000434935.2_Frame_Shift_Del_p.I375fs			Q8IYT2	FTSJ1_HUMAN		375						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTTTTCAGAAATAGTCTCTAGC	0.337													21	18	---	---	---	---					
INCA1	388324	broad.mit.edu	37	17	4891810	4891812	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:4891810_4891812delCCT	ENST00000396829.2	-	9	1165_1167	c.599_601delAGG	c.(598-603)gct>g	p.EA200del	INCA1_ENST00000355025.3_In_Frame_Del_p.EA185del|INCA1_ENST00000574617.1_In_Frame_Del_p.EA200del|INCA1_ENST00000575780.1_In_Frame_Del_p.EA185del|INCA1_ENST00000576820.1_In_Frame_Del_p.EA200del	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	200						nucleus				upper_aerodigestive_tract(1)	1						GAGGCACAAGCCTCCTCCTGATC	0.532													30	9	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577112	7577113	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:7577112_7577113delCA	ENST00000420246.2	-	8	957_958	c.825_826delTG	c.(823-828)tgccfs	p.CA275fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.CA275fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.CA275fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.CA275fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.CA275fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A276P(15)|p.A276S(9)|p.0?(8)|p.C275W(7)|p.A276T(7)|p.C275C(4)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.R273_C275delRVC(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.C275*(1)|p.F270_D281del12(1)|p.A276fs*31(1)|p.C275_R283delCACPGRDRR(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.A276fs*29(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCAGGACAGGCACAAACACGCA	0.550		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	4	---	---	---	---					
AOC2	314	broad.mit.edu	37	17	40997726	40997727	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:40997726_40997727delGT	ENST00000253799.3	+	1	1110_1111	c.1083_1084delGT	c.(1081-1086)gagtfs	p.EC361fs	AOC2_ENST00000452774.2_Frame_Shift_Del_p.EC361fs	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	361					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTGTCCAGGAGTGTGTATCTAT	0.530													71	23	---	---	---	---					
PRKAR1A	5573	broad.mit.edu	37	17	66526578	66526581	+	Frame_Shift_Del	DEL	ACTG	ACTG	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr17:66526578_66526581delACTG	ENST00000589228.1	+	11	1262_1265	c.1134_1137delACTG	c.(1132-1137)tcfs	p.SL378fs	PRKAR1A_ENST00000392711.1_Frame_Shift_Del_p.SL378fs|PRKAR1A_ENST00000358598.2_Frame_Shift_Del_p.SL378fs|PRKAR1A_ENST00000536854.2_Frame_Shift_Del_p.SL378fs|PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000586397.1_Frame_Shift_Del_p.SL378fs	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	378					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GTTTTGTGTCACTGTCTGTCTGAA	0.480			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				35	9	---	---	---	---					
ZBTB7A	51341	broad.mit.edu	37	19	4054105	4054107	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:4054105_4054107delTCT	ENST00000322357.4	-	2	1402_1404	c.1124_1126delAGA	c.(1123-1128)atc>a	p.KI375del	ZBTB7A_ENST00000601588.1_In_Frame_Del_p.KI375del	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	375					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGCTCGGATCTTCTTCTCCAC	0.650													31	53	---	---	---	---					
ZNF260	339324	broad.mit.edu	37	19	37005633	37005634	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:37005633_37005634delCA	ENST00000523638.1	-	3	1628_1629	c.507_508delTG	c.(505-510)tggafs	p.CG169fs	ZNF260_ENST00000593142.1_Frame_Shift_Del_p.CG169fs|ZNF260_ENST00000592282.1_Frame_Shift_Del_p.CG169fs|ZNF260_ENST00000588993.1_Frame_Shift_Del_p.CG169fs	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	169					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AAGGCTCTTCCACACTGATTAC	0.396													84	126	---	---	---	---					
ZNF226	7769	broad.mit.edu	37	19	44679960	44679961	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr19:44679960_44679961delAG	ENST00000590089.1	+	7	912_913	c.545_546delAG	c.(544-546)cfs	p.Q182fs	ZNF226_ENST00000337433.5_Frame_Shift_Del_p.Q182fs|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.Q182fs|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				ACTGAGTCACAGAGATTGAACA	0.376													11	24	---	---	---	---					
ZNF512B	57473	broad.mit.edu	37	20	62595733	62595734	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr20:62595733_62595734delTC	ENST00000450537.1	-	7	1332_1333	c.1272_1273delGA	c.(1270-1275)caaafs	p.QK424fs	ZNF512B_ENST00000369888.1_Frame_Shift_Del_p.QK424fs|ZNF512B_ENST00000217130.3_Frame_Shift_Del_p.QK424fs			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGGTGTTTTCTGTTTCCTTC	0.599													110	137	---	---	---	---					
UMODL1	89766	broad.mit.edu	37	21	43504228	43504228	+	Frame_Shift_Del	DEL	T	T	-	rs7278485	by1000genomes	TCGA-FS-A4F9-06A-11D-A24R-08	TCGA-FS-A4F9-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afc0e54a-1a48-450b-acb5-574b2ffbfa62	1d6e67e0-edc4-4b90-8f2f-c018056b7267	g.chr21:43504228delT	ENST00000400427.1	+	3	534	c.138delT	c.(136-138)ccfs	p.P46fs	UMODL1_ENST00000400424.1_Frame_Shift_Del_p.P46fs|UMODL1_ENST00000408989.2_Frame_Shift_Del_p.P118fs|UMODL1_ENST00000408910.2_Frame_Shift_Del_p.P118fs	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	118	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CGTCAAGACCTGGGGCCTGCC	0.572													73	136	---	---	---	---