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
TMEM200C	645369	broad.mit.edu	37	18	5891789	5891789	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:5891789C>A	ENST00000581347.1	-	3	919	c.274G>T	c.(274-276)Gcg>Tcg	p.A92S	TMEM200C_ENST00000383490.2_Missense_Mutation_p.A92S|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	92						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTGCTGCCCGCAGGCGGCAGC	0.672000													59	31					2.69953e-25	3.67752e-25	0.003610	1	0
SNRPN	6638	broad.mit.edu	37	15	25222062	25222062	+	Silent	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:25222062A>T	ENST00000444203.2	+	5	1357	c.318A>T	c.(316-318)ggA>ggT	p.G106G	SNRPN_ENST00000400097.1_Silent_p.G102G|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Silent_p.G106G|SNRPN_ENST00000400098.1_Silent_p.G102G|SNRPN_ENST00000400100.1_Silent_p.G102G|SNRPN_ENST00000390687.4_Silent_p.G102G|SNRPN_ENST00000346403.6_Silent_p.G102G|SNRPN_ENST00000577565.1_Silent_p.G102G			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	102					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)		GAGCTGCTGGAGGCCCTGGGG	0.527000									Prader-Willi syndrome				33	114					0	0	0.004289	0	0
ZDHHC11	79844	broad.mit.edu	37	5	837564	837564	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:837564G>T	ENST00000283441.8	-	6	1199	c.816C>A	c.(814-816)ctC>ctA	p.L272L	ZDHHC11_ENST00000424784.2_Silent_p.L272L|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	272						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGTTATTAATGAGATACTCAA	0.493000													5	196					2.7689e-08	3.05491e-08	0.001984	1	0
FRMD7	90167	broad.mit.edu	37	X	131234702	131234702	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:131234702G>A	ENST00000298542.4	-	2	275	c.100C>T	c.(100-102)Cat>Tat	p.H34Y	RP1-305B16.2_ENST00000513703.1_RNA|FRMD7_ENST00000464296.1_Missense_Mutation_p.H34Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	34	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGATTTAGATGGCTGCAACTC	0.373000													29	80					0	0	0.007291	0	0
CNST	163882	broad.mit.edu	37	1	246811011	246811011	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:246811011C>G	ENST00000366513.4	+	9	1777	c.1508C>G	c.(1507-1509)tCa>tGa	p.S503*	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Nonsense_Mutation_p.S503*	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	503					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CAGGCTGACTCAGACGGTTCT	0.468000													8	128					0	0	0.003080	0	0
CASR	846	broad.mit.edu	37	3	122002903	122002903	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:122002903G>T	ENST00000498619.1	+	7	2570	c.2132G>T	c.(2131-2133)cGt>cTt	p.R711L	CASR_ENST00000296154.5_Missense_Mutation_p.R701L|CASR_ENST00000490131.1_Missense_Mutation_p.R701L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	701					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)	AAAACCAACCGTGTCCTCCTG	0.602000													25	73					5.45024e-15	6.61674e-15	0.003330	1	0
GRID2	2895	broad.mit.edu	37	4	94032000	94032000	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:94032000C>A	ENST00000282020.4	+	4	889	c.631C>A	c.(631-633)Ctc>Atc	p.L211I	GRID2_ENST00000510992.1_Missense_Mutation_p.L116I|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	211					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GATTACCACTCTCTTTGACAC	0.418000													48	132					3.21987e-24	4.33926e-24	0.003610	1	0
COL11A1	1301	broad.mit.edu	37	1	103355016	103355016	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:103355016C>A	ENST00000358392.2	-	59	4812	c.4495G>T	c.(4495-4497)Gat>Tat	p.D1499Y	COL11A1_ENST00000353414.4_Missense_Mutation_p.D1448Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.D1371Y|COL11A1_ENST00000370096.3_Missense_Mutation_p.D1487Y	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1487	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCACCCCATCCCCTTTTGCT	0.433000													24	72					1.77063e-15	2.17324e-15	0.005443	1	0
TNS3	64759	broad.mit.edu	37	7	47384412	47384412	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:47384412G>A	ENST00000398879.1	-	20	2957	c.2591C>T	c.(2590-2592)cCg>cTg	p.P864L	TNS3_ENST00000311160.9_Missense_Mutation_p.P864L|TNS3_ENST00000355730.3_Missense_Mutation_p.P624L			Q68CZ2	TENS3_HUMAN	tensin 3	864						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGGGCTGAACGGAGGATGGCG	0.597000													9	186					0	0	0.006214	0	0
ERCC6	2074	broad.mit.edu	37	10	50691563	50691563	+	Splice_Site	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:50691563C>A	ENST00000355832.5	-	9	1900		c.e9-1		ERCC6_ENST00000542458.1_Splice_Site	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6						base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTAGTTTCTCCTGAGACCACA	0.348000								Direct reversal of damage;Nucleotide excision repair (NER)					22	82					1.9806e-07	2.16614e-07	0.002299	1	0
TRBV11-1	28582	broad.mit.edu	37	7	142224008	142224008	+	RNA	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:142224008C>A	ENST00000390367.3	-	0	175																											TCTGCCGGTACCAGTAAAGGG	0.488000													59	31					3.21867e-24	4.33926e-24	0.003610	1	0
C20orf26	26074	broad.mit.edu	37	20	20144808	20144808	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:20144808T>C	ENST00000245957.5	+	11	1217	c.1141T>C	c.(1141-1143)Tac>Cac	p.Y381H	C20orf26_ENST00000377306.1_Missense_Mutation_p.Y381H|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.Y381H|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	381										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCGCCCCATCTACAGGGGAGC	0.507000													29	103					0	0	0.008361	0	0
HDGFRP2	84717	broad.mit.edu	37	19	4498882	4498882	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:4498882G>A	ENST00000301284.4	+	13	1609	c.1545G>A	c.(1543-1545)aaG>aaA	p.K515K	HDGFRP2_ENST00000586684.1_Silent_p.K515K	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		515					transcription, DNA-dependent	nucleus	DNA binding|protein binding										TCCTCCAGAAGAACACAGACG	0.637000													7	21					0	0	0.003080	0	0
CRISP2	7180	broad.mit.edu	37	6	49676878	49676878	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:49676878G>C	ENST00000339139.4	-	4	268	c.32C>G	c.(31-33)aCt>aGt	p.T11S		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	11						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AAGCAGCACAGTAACCAGAAA	0.388000													41	89					0	0	0.006999	0	0
NLGN3	54413	broad.mit.edu	37	X	70384145	70384145	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:70384145G>A	ENST00000374051.3	+	5	1142	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	NLGN3_ENST00000536169.1_Missense_Mutation_p.V254I|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.V294I	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	294					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGCATCCTGCGTCAGCCTCCT	0.597000													9	48					0	0	0.006214	0	0
EEF1A2	1917	broad.mit.edu	37	20	62120282	62120282	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:62120282T>G	ENST00000217182.3	-	7	1418	c.1253A>C	c.(1252-1254)tAc>tCc	p.Y418S	EEF1A2_ENST00000298049.7_Missense_Mutation_p.Y418S	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	418						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.Y418S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GAGAGGCGGGTACTGGGAGAA	0.667000													10	41					0	0	0.005443	0	0
OR52R1	119695	broad.mit.edu	37	11	4825658	4825658	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:4825658G>A	ENST00000380382.1	-	1	189	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTCTCTGCAGATGATAACAA	0.408000													36	87					0	0	0.006230	0	0
RWDD3	25950	broad.mit.edu	37	1	95710108	95710108	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:95710108C>G	ENST00000429514.2	+	3	588	c.382C>G	c.(382-384)Ctt>Gtt	p.L128V	RWDD3_ENST00000370202.4_Missense_Mutation_p.L143V|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000263893.6_Missense_Mutation_p.L143V|RP11-57H12.5_ENST00000444665.1_RNA			Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	143						cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		GTGGATAACTCTTTTGCATTT	0.423000													9	132					0	0	0.006214	0	0
STARD13	90627	broad.mit.edu	37	13	33760024	33760024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:33760024G>A	ENST00000255486.4	-	1	192	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	STARD13_ENST00000336934.5_Intron|STARD13_ENST00000399365.3_Intron|STARD13_ENST00000487412.1_Intron	NM_178007.2	NP_821075.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	915					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CCCCGGCGCTGGAATGTGTGG	0.527000													13	156					0	0	0.001368	0	0
RRP15	51018	broad.mit.edu	37	1	218458660	218458660	+	Translation_Start_Site	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:218458660T>C	ENST00000366932.3	+	1	32	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	1						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		CGCAGAAAAATGGCAGCCGCC	0.562000													16	52					0	0	0.002780	0	0
TNP2	7142	broad.mit.edu	37	16	11362792	11362792	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:11362792C>G	ENST00000312693.3	-	1	397	c.328G>C	c.(328-330)Gaa>Caa	p.E110Q	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	110					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGCTTGCCTTCCAAGTTCTTT	0.537000													3	110					0	0	0.004672	0	0
KPNB1	3837	broad.mit.edu	37	17	45738534	45738534	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:45738534C>A	ENST00000290158.4	+	6	1093	c.686C>A	c.(685-687)cCa>cAa	p.P229Q	KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000537679.1_Missense_Mutation_p.P84Q|KPNB1_ENST00000535458.2_Missense_Mutation_p.P84Q|KPNB1_ENST00000540627.1_Missense_Mutation_p.P84Q	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	229					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						ACACAGTGTCCAGATACGAGG	0.368000													12	37					5.50884e-06	5.84659e-06	0.001368	1	0
ASH1L	55870	broad.mit.edu	37	1	155451617	155451617	+	Silent	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:155451617T>G	ENST00000368346.3	-	3	1683	c.1044A>C	c.(1042-1044)ccA>ccC	p.P348P	ASH1L_ENST00000392403.3_Silent_p.P348P|ASH1L_ENST00000548830.1_3'UTR			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	348					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCACTAAACCTGGAACAATAC	0.393000													134	184					0	0	0.003610	0	0
ANKRD40	91369	broad.mit.edu	37	17	48777142	48777142	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:48777142G>C	ENST00000285243.6	-	3	665	c.396C>G	c.(394-396)atC>atG	p.I132M		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	132										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TGGGTGTATAGATAAAAGGGA	0.542000													8	110					0	0	0.004482	0	0
C11orf63	79864	broad.mit.edu	37	11	122830098	122830098	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:122830098G>C	ENST00000227349.2	+	9	2579	c.2282G>C	c.(2281-2283)aGa>aCa	p.R761T	C11orf63_ENST00000531316.1_Missense_Mutation_p.R761T	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	761										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CTGCAGAACAGACACGAAAGG	0.408000													3	67					0	0	0.004672	0	0
MUC15	143662	broad.mit.edu	37	11	26586850	26586850	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:26586850C>A	ENST00000436318.2	-	2	770	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Nonsense_Mutation_p.E213*|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Nonsense_Mutation_p.E213*|MUC15_ENST00000527569.1_Nonsense_Mutation_p.E213*|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000455601.2_Nonsense_Mutation_p.E186*			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	186						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CCACTTGGTTCCACTATCAAG	0.418000													42	85					4.32679e-17	5.42334e-17	0.006999	1	0
NUP133	55746	broad.mit.edu	37	1	229606485	229606485	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:229606485G>C	ENST00000261396.3	-	15	2009	c.1918C>G	c.(1918-1920)Ctc>Gtc	p.L640V	NUP133_ENST00000366679.1_Missense_Mutation_p.L640V|NUP133_ENST00000537506.1_Missense_Mutation_p.L624V	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	640					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCTCACAGAGCAACAGTCGA	0.483000													15	110					0	0	0.004007	0	0
NRXN1	9378	broad.mit.edu	37	2	50724658	50724658	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:50724658C>A	ENST00000404971.1	-	15	4151	c.2812G>T	c.(2812-2814)Ggc>Tgc	p.G938C	NRXN1_ENST00000401669.2_Missense_Mutation_p.G898C|NRXN1_ENST00000405472.3_Missense_Mutation_p.G890C|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.G898C|NRXN1_ENST00000402717.3_Missense_Mutation_p.G890C|NRXN1_ENST00000406316.2_Missense_Mutation_p.G898C	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	898	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCCTGAAGCCAAATCTGGCA	0.418000													62	38					3.30226e-22	4.36821e-22	0.003610	1	0
ACAD8	27034	broad.mit.edu	37	11	134132438	134132438	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:134132438C>T	ENST00000281182.4	+	10	1223	c.1117C>T	c.(1117-1119)Cac>Tac	p.H373Y	ACAD8_ENST00000374752.4_Missense_Mutation_p.H246Y|ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.H296Y	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	373					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CTTGCAGATGCACGGGGGCTA	0.552000											OREG0021549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	28					0	0	0.006122	0	0
SHOX2	6474	broad.mit.edu	37	3	157820646	157820646	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:157820646C>A	ENST00000389589.4	-	3	583	c.448G>T	c.(448-450)Gat>Tat	p.D150Y	SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000490689.2_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.D126Y|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000425436.3_Missense_Mutation_p.D126Y	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	126					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CCTTTCGCATCCTCTTTGCGA	0.572000													42	115					7.05121e-23	9.37671e-23	0.010771	1	0
AZI1	22994	broad.mit.edu	37	17	79166565	79166565	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:79166565C>T	ENST00000269392.4	-	19	2656	c.2409G>A	c.(2407-2409)gaG>gaA	p.E803E	AZI1_ENST00000450824.2_Silent_p.E800E|AZI1_ENST00000575907.1_Intron|AZI1_ENST00000374782.3_Intron	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	803					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCCGCTCCCTCTCCTCAGCCA	0.731000													4	38					0	0	0.000602	0	0
RPTN	126638	broad.mit.edu	37	1	152129352	152129352	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:152129352G>T	ENST00000316073.3	-	3	287	c.223C>A	c.(223-225)Ctc>Atc	p.L75I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	75	EF-hand 2.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCAACAAGAGGTACTCATGA	0.458000													101	115					1.59803e-59	2.48747e-59	0.003610	1	0
B4GALNT4	338707	broad.mit.edu	37	11	375893	375893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:375893C>A	ENST00000329962.6	+	11	1032	c.1032C>A	c.(1030-1032)tgC>tgA	p.C344*		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	344						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGAGCCCTGCGCCTACGCCC	0.677000													7	28					2.7689e-08	3.05491e-08	0.001984	1	0
MAX	4149	broad.mit.edu	37	14	65544682	65544682	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:65544682G>A	ENST00000284165.6	-	4	392	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	MAX_ENST00000341653.2_Intron|MAX_ENST00000358664.4_Nonsense_Mutation_p.Q82*|MAX_ENST00000557746.1_Nonsense_Mutation_p.Q73*|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000556979.1_Nonsense_Mutation_p.Q82*|MAX_ENST00000556443.1_Nonsense_Mutation_p.Q73*|MAX_ENST00000555932.1_Intron|MAX_ENST00000555667.1_Nonsense_Mutation_p.Q73*|MAX_ENST00000555419.1_Nonsense_Mutation_p.Q46*|MAX_ENST00000358402.4_Nonsense_Mutation_p.Q73*	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	82	Leucine-zipper.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		ATATCTTGCTGGTGTGTGTGG	0.542000													74	49					0	0	0.003610	0	0
IGLV2-18	28814	broad.mit.edu	37	22	23077296	23077296	+	RNA	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:23077296C>T	ENST00000390310.2	+	0	86																											TGCCCTGACTCAGCCTCCCTC	0.547000													20	290					0	0	0.008871	0	0
RNF216	54476	broad.mit.edu	37	7	5662711	5662711	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:5662711T>A	ENST00000425013.2	-	17	2605	c.2381A>T	c.(2380-2382)cAg>cTg	p.Q794L	RNF216_ENST00000389902.3_Missense_Mutation_p.Q851L|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	794	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CATCTGTGGCTGTGGCAGGTT	0.632000													109	142					0	0	0.003610	0	0
GRM6	2916	broad.mit.edu	37	5	178416024	178416024	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:178416024G>T	ENST00000231188.5	-	6	1444	c.1266C>A	c.(1264-1266)ctC>ctA	p.L422L	GRM6_ENST00000517717.1_Silent_p.L422L|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	422					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCCCAGGGCAGAGCGCCTGGT	0.627000													12	35					1.36491e-13	1.62366e-13	0.001855	1	0
STAP1	26228	broad.mit.edu	37	4	68459051	68459051	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:68459051T>C	ENST00000265404.2	+	8	885	c.803T>C	c.(802-804)aTa>aCa	p.I268T	STAP1_ENST00000396225.1_Missense_Mutation_p.I268T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	268	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AGACCATTTATATGTTCAACT	0.333000													29	102					0	0	0.008361	0	0
VRK2	7444	broad.mit.edu	37	2	58276092	58276092	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:58276092G>A	ENST00000435505.2	+	5	871	c.126G>A	c.(124-126)ttG>ttA	p.L42L	VRK2_ENST00000440705.2_Silent_p.L19L|VRK2_ENST00000412104.2_Silent_p.L42L|VRK2_ENST00000340157.4_Silent_p.L42L|VRK2_ENST00000417641.2_Silent_p.L42L			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	42	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GATTTGGATTGATATATTTAG	0.353000													22	55					0	0	0.003330	0	0
TMEM169	92691	broad.mit.edu	37	2	216965125	216965125	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:216965125T>C	ENST00000454545.1	+	4	1080	c.754T>C	c.(754-756)Ttc>Ctc	p.F252L	TMEM169_ENST00000295658.4_Missense_Mutation_p.F252L|TMEM169_ENST00000406027.2_Missense_Mutation_p.F252L|TMEM169_ENST00000437356.2_Missense_Mutation_p.F252L	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	252						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGAAAGGCTTCTGTGGCTG	0.572000													79	233					0	0	0.003610	0	0
LPHN3	23284	broad.mit.edu	37	4	62813870	62813870	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:62813870G>T	ENST00000512091.1	+	16	3224	c.2477G>T	c.(2476-2478)cGt>cTt	p.R826L	LPHN3_ENST00000514996.1_Missense_Mutation_p.R826L|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894L|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826L|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894L|LPHN3_ENST00000514591.1_Missense_Mutation_p.R826L|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894L|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826L|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894L|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826L|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894L|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894L|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894L|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826L|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	813	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R826H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTCCAAGCGTACAATGACA	0.383000													10	37					7.48243e-07	8.13907e-07	0.006214	1	0
CLDN10	9071	broad.mit.edu	37	13	96205172	96205172	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:96205172C>T	ENST00000299339.2	+	1	194	c.165C>T	c.(163-165)acC>acT	p.T55T	CLDN10_ENST00000376873.3_Intron	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	55					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			CGTGCGTTACCGACTCCACGG	0.647000													5	112					0	0	0.001168	0	0
ACTR1A	10121	broad.mit.edu	37	10	104241875	104241875	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:104241875C>T	ENST00000369905.4	-	8	871	c.808G>A	c.(808-810)Gag>Aag	p.E270K	ACTR1A_ENST00000545684.1_Missense_Mutation_p.E196K|ACTR1A_ENST00000446605.2_Missense_Mutation_p.E223K|ACTR1A_ENST00000487599.1_Missense_Mutation_p.E270K|ACTR1A_ENST00000470322.1_5'UTR	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	270					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TCACTCTCCTCTCCAATCAAA	0.572000													48	221					0	0	0.003610	0	0
ROR2	4920	broad.mit.edu	37	9	94499775	94499775	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:94499775A>T	ENST00000375708.3	-	5	718	c.520T>A	c.(520-522)Tgc>Agc	p.C174S	ROR2_ENST00000375715.1_Missense_Mutation_p.C34S|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	174	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TAAGGCTGGCAGAACCCATCC	0.512000													79	45					0	0	0.003610	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970938	45970938	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:45970938G>T	ENST00000391621.1	-	1	450	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	135	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CTGCTGGCAGGAGGAAGAGGC	0.617000													11	313					1.58986e-06	1.71269e-06	0.008291	1	0
RASAL2	9462	broad.mit.edu	37	1	178425883	178425883	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:178425883C>T	ENST00000448150.3	+	13	3024	c.2206C>T	c.(2206-2208)Cct>Tct	p.P736S	RASAL2_ENST00000367649.3_Missense_Mutation_p.P747S|RASAL2_ENST00000462775.1_Missense_Mutation_p.P606S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	606					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGGGCCTCTCCCTCGTGTTCT	0.448000													131	325					0	0	0.003610	0	0
LARS	51520	broad.mit.edu	37	5	145552329	145552329	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:145552329T>A	ENST00000394434.2	-	3	300	c.134A>T	c.(133-135)aAg>aTg	p.K45M	LARS_ENST00000511505.1_5'UTR|LARS_ENST00000510191.1_De_novo_Start_InFrame|LARS_ENST00000545646.1_Missense_Mutation_p.K45M|LARS_ENST00000274562.9_Missense_Mutation_p.K45M	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	45					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TACAAAATACTTGCCCTTGCT	0.358000													8	37					0	0	0.006214	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	98					0	0	0.000602	0	0
KIAA0368	23392	broad.mit.edu	37	9	114135595	114135595	+	Splice_Site	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:114135595C>A	ENST00000259335.4	-	41	4802	c.4803_splice	c.e41+1	p.R1601_splice	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Splice_Site_p.R1423_splice	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTTAACTCACCCGAACTAAAT	0.388000													151	63					1.26598e-50	1.94052e-50	0.003610	1	0
KIAA1217	56243	broad.mit.edu	37	10	24762923	24762923	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:24762923C>G	ENST00000376451.2	+	2	1027	c.767C>G	c.(766-768)cCt>cGt	p.P256R	KIAA1217_ENST00000458595.1_Missense_Mutation_p.P538R|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P459R|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P256R|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P538R|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P256R|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P538R|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P458R|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P256R			Q5T5P2	SKT_HUMAN	KIAA1217	538					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						GACCTCGGCCCTCCTCTAATG	0.547000													54	65					0	0	0.003610	0	0
FAM154B	283726	broad.mit.edu	37	15	82574765	82574765	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:82574765G>T	ENST00000339465.5	+	3	628	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	FAM154B_ENST00000427381.2_Missense_Mutation_p.D172Y|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	187										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TCACCGGTGTGACTTTCAGGG	0.443000													29	63					2.48779e-11	2.86439e-11	0.005443	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160274748	160274748	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:160274748G>C	ENST00000264431.4	+	22	4137	c.3718G>C	c.(3718-3720)Gat>Cat	p.D1240H		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1240					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CGCGTCACTTGATGCTGCTGA	0.537000													14	148					0	0	0.002450	0	0
POTEH	23784	broad.mit.edu	37	22	16287306	16287306	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:16287306G>T	ENST00000343518.6	-	1	631	c.580C>A	c.(580-582)Ctc>Atc	p.L194I		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	194										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATGACGATGAGATCCTTTCTG	0.562000													57	276					1.12115e-39	1.66269e-39	0.003610	1	0
SLCO5A1	81796	broad.mit.edu	37	8	70744678	70744678	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:70744678G>T	ENST00000260126.3	-	2	937	c.231C>A	c.(229-231)aaC>aaA	p.N77K	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.N77K|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.N77K	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	77						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)			GGGCCAACGGGTTCGGGCCTT	0.652000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	26					2.95478e-19	3.75519e-19	0.008740	1	0
GAP43	2596	broad.mit.edu	37	3	115395427	115395427	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:115395427G>T	ENST00000393780.3	+	3	1174	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	GAP43_ENST00000305124.6_Missense_Mutation_p.G200W	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	200					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AACGGAGACTGGGGAGAGCAG	0.607000													6	28					0.00307968	0.00315188	0.003080	1	0
ADAMTS1	9510	broad.mit.edu	37	21	28214825	28214825	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:28214825G>T	ENST00000284984.2	-	2	1364	c.910C>A	c.(910-912)Ctg>Atg	p.L304M		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	304	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		ACCACCACCAGGCTAACTGAA	0.512000													86	41					7.83748e-43	1.18506e-42	0.003610	1	0
SCN11A	11280	broad.mit.edu	37	3	38888582	38888582	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:38888582G>A	ENST00000302328.3	-	26	5177	c.4979C>T	c.(4978-4980)gCa>gTa	p.A1660V	SCN11A_ENST00000450244.1_Missense_Mutation_p.A1660V|SCN11A_ENST00000456224.3_Missense_Mutation_p.A1622V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1660					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATTTGGCTTTGCGACACGCAA	0.438000													48	86					0	0	0.003610	0	0
ANKRD29	147463	broad.mit.edu	37	18	21192080	21192080	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:21192080C>A	ENST00000592179.1	-	9	952	c.798G>T	c.(796-798)ggG>ggT	p.G266G	ANKRD29_ENST00000284207.7_Intron|ANKRD29_ENST00000322980.9_Intron	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	266										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATGGGTCTGCCCCTGCTTCTA	0.488000													61	70					5.82218e-30	8.20993e-30	0.003610	1	0
GALNT14	79623	broad.mit.edu	37	2	31215713	31215713	+	Missense_Mutation	SNP	C	C	T	rs113322802		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:31215713C>T	ENST00000349752.5	-	2	929	c.290G>A	c.(289-291)cGc>cAc	p.R97H	GALNT14_ENST00000420311.2_Missense_Mutation_p.R62H|GALNT14_ENST00000356174.3_Missense_Mutation_p.R97H|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000406653.1_Missense_Mutation_p.R77H	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	97						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCTCAGATGGCGAGTGTCCGG	0.567000													13	224					0	0	0.003163	0	0
IFT140	9742	broad.mit.edu	37	16	1634398	1634398	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:1634398C>T	ENST00000426508.2	-	11	1542	c.1179G>A	c.(1177-1179)ctG>ctA	p.L393L	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	393										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGTTCACTGCCAGCAGGTTCT	0.557000													6	29					0	0	0.001168	0	0
CCNB3	85417	broad.mit.edu	37	X	50085236	50085236	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:50085236G>T	ENST00000376042.1	+	9	3850	c.3552G>T	c.(3550-3552)ttG>ttT	p.L1184F	CCNB3_ENST00000376038.1_Missense_Mutation_p.L80F|CCNB3_ENST00000348603.2_Missense_Mutation_p.L80F|CCNB3_ENST00000276014.7_Missense_Mutation_p.L1184F			Q8WWL7	CCNB3_HUMAN	cyclin B3	1184					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCCTGTACTTGGCAGTGAAGC	0.478000													63	70					1.85135e-42	2.79093e-42	0.003610	1	0
HIP1	3092	broad.mit.edu	37	7	75174446	75174446	+	Missense_Mutation	SNP	C	C	G	rs138790100		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:75174446C>G	ENST00000336926.6	-	26	2626	c.2600G>C	c.(2599-2601)cGa>cCa	p.R867P	HIP1_ENST00000434438.2_Missense_Mutation_p.R816P	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	867	I/LWEQ.|Important for actin binding (By similarity).				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCTGTCCATCGAGAGTTCTT	0.468000			T	PDGFRB	CMML								63	212					0	0	0.003610	0	0
ASZ1	136991	broad.mit.edu	37	7	117007429	117007429	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:117007429T>C	ENST00000284629.2	-	12	1314	c.1252A>G	c.(1252-1254)Aaa>Gaa	p.K418E		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	418					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)			TCTTTTAGTTTGCAGACCTTT	0.328000													30	15					0	0	0.008361	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711521	155711521	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:155711521C>G	ENST00000295101.2	+	3	1679	c.1202C>G	c.(1201-1203)tCt>tGt	p.S401C	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	401					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAACTACCATCTAAGCTGCAG	0.398000													9	226					0	0	0.004482	0	0
APLP1	333	broad.mit.edu	37	19	36362806	36362806	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:36362806G>T	ENST00000221891.4	+	6	910	c.718G>T	c.(718-720)Gct>Tct	p.A240S	APLP1_ENST00000537454.2_Missense_Mutation_p.A201S|APLP1_ENST00000586861.1_Missense_Mutation_p.A234S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	240					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)			AGTAGAGGGGGCTGAGGACGA	0.642000													36	278					6.05902e-23	8.06798e-23	0.003755	1	0
TMEM71	137835	broad.mit.edu	37	8	133740123	133740123	+	Silent	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:133740123T>C	ENST00000356838.3	-	6	682	c.540A>G	c.(538-540)ggA>ggG	p.G180G	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Silent_p.G199G	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	199						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGGAGTTTCCTCCAGGAGGCT	0.463000													38	271					0	0	0.006230	0	0
RBM10	8241	broad.mit.edu	37	X	47034417	47034417	+	Splice_Site	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:47034417G>C	ENST00000377604.3	+	6	1244		c.e6-1		RBM10_ENST00000329236.7_Splice_Site|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Splice_Site	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10						mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCTGTCTCCAGGTCAGAGCCG	0.607000													24	30					0	0	0.002780	0	0
DDX4	54514	broad.mit.edu	37	5	55077767	55077767	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:55077767G>A	ENST00000505374.1	+	10	675	c.583G>A	c.(583-585)Ggt>Agt	p.G195S	DDX4_ENST00000353507.5_Missense_Mutation_p.G161S|DDX4_ENST00000354991.5_Missense_Mutation_p.G161S|DDX4_ENST00000511853.1_Missense_Mutation_p.G62S|DDX4_ENST00000514278.2_Missense_Mutation_p.G175S	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	195	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TACAGGTAATGGTGATACTTC	0.338000													14	41					0	0	0.003163	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216521	20216521	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:20216521C>A	ENST00000331723.1	+	1	935	c.935C>A	c.(934-936)cCt>cAt	p.P312H		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTCCATTGCCTTGTTAAGGA	0.393000													26	33					4.7796e-09	5.32009e-09	0.004656	1	0
SERINC4	619189	broad.mit.edu	37	15	44088828	44088828	+	Silent	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:44088828A>G	ENST00000319327.6	-	8	1287	c.1053T>C	c.(1051-1053)tgT>tgC	p.C351C	SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|HYPK_ENST00000406925.1_5'UTR|RP11-296A16.1_ENST00000417761.2_3'UTR|SERINC4_ENST00000249714.3_Silent_p.C107C|SERINC4_ENST00000299969.6_Intron|SERF2_ENST00000594896.1_Intron	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	351					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAAAAAGCACACAAGCATACA	0.498000													49	112					0	0	0.003610	0	0
PCDH17	27253	broad.mit.edu	37	13	58298763	58298763	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:58298763A>G	ENST00000377918.3	+	4	2841	c.2815A>G	c.(2815-2817)Aat>Gat	p.N939D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	939					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAGTGTGTTAATTGCACAGA	0.428000													19	81					0	0	0.002299	0	0
SZT2	23334	broad.mit.edu	37	1	43914143	43914143	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:43914143C>A	ENST00000562955.1	+	68	9786	c.9786C>A	c.(9784-9786)atC>atA	p.I3262I	SZT2_ENST00000372442.1_Silent_p.I2420I|SZT2-AS1_ENST00000396885.2_RNA	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3319						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						TTGGGGACATCGACCCCCAGC	0.627000													10	33					2.17888e-05	2.2835e-05	0.006214	1	0
PGC	5225	broad.mit.edu	37	6	41712451	41712451	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:41712451C>G	ENST00000373025.3	-	2	217	c.155G>C	c.(154-156)tGg>tCg	p.W52S	PGC_ENST00000425343.2_Missense_Mutation_p.W52S	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	52				W -> S (in Ref. 9; AA sequence).	digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCGGTACTTCCAAGCAGGATC	0.542000													8	58					0	0	0.003080	0	0
GPR112	139378	broad.mit.edu	37	X	135482067	135482067	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:135482067G>T	ENST00000394143.1	+	21	8658	c.8367G>T	c.(8365-8367)atG>atT	p.M2789I	GPR112_ENST00000412101.1_Missense_Mutation_p.M2584I|GPR112_ENST00000394141.1_Missense_Mutation_p.M2584I|GPR112_ENST00000287534.4_Missense_Mutation_p.M2542I|GPR112_ENST00000370652.1_Missense_Mutation_p.M2789I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2789					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)					CACTACTGATGCTAAACCTGG	0.378000													23	107					6.44725e-10	7.32244e-10	0.002299	1	0
ABI3BP	25890	broad.mit.edu	37	3	100511545	100511545	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:100511545C>G	ENST00000471714.1	-	54	4096	c.3987G>C	c.(3985-3987)aaG>aaC	p.K1329N	ABI3BP_ENST00000284322.5_Missense_Mutation_p.K652N|ABI3BP_ENST00000383691.4_Missense_Mutation_p.K606N			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	652						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CCTGAGTTGTCTTTGCTAGTT	0.368000													5	75					0	0	0.000602	0	0
STAP1	26228	broad.mit.edu	37	4	68441185	68441185	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:68441185T>A	ENST00000265404.2	+	3	357	c.275T>A	c.(274-276)cTt>cAt	p.L92H	STAP1_ENST00000396225.1_Missense_Mutation_p.L92H	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	92	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AAATTCACCCTTGTTTTGCCG	0.403000													10	53					0	0	0.008291	0	0
PGAP1	80055	broad.mit.edu	37	2	197706049	197706049	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:197706049C>T	ENST00000354764.3	-	27	2792	c.2678G>A	c.(2677-2679)gGt>gAt	p.G893D		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	893					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AGCAATCACACCAACAGCCAG	0.368000													19	74					0	0	0.010504	0	0
ZNF780A	284323	broad.mit.edu	37	19	40587775	40587775	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:40587775C>T	ENST00000450241.2	-	5	392	c.81G>A	c.(79-81)gaG>gaA	p.E27E	ZNF780A_ENST00000340963.5_Silent_p.E61E|ZNF780A_ENST00000414720.2_Silent_p.E77E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.E62E|ZNF780A_ENST00000595687.2_Silent_p.E61E|ZNF780A_ENST00000594395.1_Silent_p.E62E			O75290	Z780A_HUMAN	zinc finger protein 780A	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGGGCTCTTTCTCTTGCTCTA	0.398000													23	96					0	0	0.003330	0	0
CFHR5	81494	broad.mit.edu	37	1	196953168	196953168	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:196953168C>A	ENST00000367414.5	+	3	459	c.403C>A	c.(403-405)Caa>Aaa	p.Q135K	CFHR5_ENST00000256785.4_Missense_Mutation_p.Q111K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	111	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGATACTGTACAAATTATTTG	0.383000													27	45					3.90053e-15	4.76415e-15	0.012213	1	0
TSHZ2	128553	broad.mit.edu	37	20	51870957	51870957	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:51870957T>A	ENST00000371497.5	+	2	1847	c.960T>A	c.(958-960)gcT>gcA	p.A320A	TSHZ2_ENST00000329613.6_Silent_p.A317A|TSHZ2_ENST00000603338.2_Silent_p.A317A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	320					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCACCCCGGCTAAGAAACGCG	0.448000													46	185					0	0	0.003610	0	0
MAP4	4134	broad.mit.edu	37	3	47956430	47956430	+	Splice_Site	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:47956430C>G	ENST00000426837.2	-	9	2015		c.e9-1		MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Splice_Site|MAP4_ENST00000360240.6_Splice_Site			P27816	MAP4_HUMAN	microtubule-associated protein 4						negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GTGACGGTTTCTAAAGGTAAT	0.443000													45	139					0	0	0.003610	0	0
NUBP1	4682	broad.mit.edu	37	16	10855248	10855248	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:10855248G>C	ENST00000283027.5	+	8	653	c.634G>C	c.(634-636)Gaa>Caa	p.E212Q	TVP23A_ENST00000572980.1_5'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.E201Q|NUBP1_ENST00000571790.1_3'UTR	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	212					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						TGTCCGGAAAGAAATCAACTT	0.542000													6	94					0	0	0.001168	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42164887	42164887	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:42164887G>A	ENST00000444063.1	+	15	1938	c.1806G>A	c.(1804-1806)aaG>aaA	p.K602K	L3MBTL1_ENST00000373135.3_Silent_p.K602K|L3MBTL1_ENST00000373134.1_Silent_p.K607K|L3MBTL1_ENST00000418998.1_Silent_p.K670K|L3MBTL1_ENST00000427442.2_Silent_p.K670K			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	602					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CCCGCAAGAAGAACCTCTCAG	0.637000													6	24					0	0	0.001168	0	0
PTPRT	11122	broad.mit.edu	37	20	40770587	40770587	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:40770587C>A	ENST00000373198.3	-	19	3039	c.2804G>T	c.(2803-2805)cGc>cTc	p.R935L	PTPRT_ENST00000373193.3_Missense_Mutation_p.R916L|PTPRT_ENST00000373201.1_Missense_Mutation_p.R903L|PTPRT_ENST00000373184.1_Missense_Mutation_p.R903L|PTPRT_ENST00000373187.1_Missense_Mutation_p.R913L|PTPRT_ENST00000356100.2_Missense_Mutation_p.R922L|PTPRT_ENST00000373190.1_Missense_Mutation_p.R912L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	913	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATTCTTATTGCGGTTTTCATC	0.502000													86	388					2.61895e-37	3.84419e-37	0.003610	1	0
MAMLD1	10046	broad.mit.edu	37	X	149638404	149638404	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:149638404C>G	ENST00000370401.2	+	4	869	c.559C>G	c.(559-561)Caa>Gaa	p.Q187E	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q162E|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q187E|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q162E			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	187					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAAAATTCAAGACCCTTC	0.502000													27	170					0	0	0.005443	0	0
GCG	2641	broad.mit.edu	37	2	163004015	163004015	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:163004015T>A	ENST00000418842.2	-	3	356	c.102A>T	c.(100-102)tcA>tcT	p.S34S	GCG_ENST00000375497.3_Silent_p.S34S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	34					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	CCTGGGAAGCTGAGAATGATC	0.448000													112	283					0	0	0.003610	0	0
KRT9	3857	broad.mit.edu	37	17	39723617	39723617	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:39723617C>T	ENST00000246662.4	-	7	1845	c.1780G>A	c.(1780-1782)Ggt>Agt	p.G594S	KRT9_ENST00000588431.1_Missense_Mutation_p.G361S	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	594	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ccactttcacctccaaaacca	0.582000													6	31					0	0	0.004482	0	0
WDFY3	23001	broad.mit.edu	37	4	85694065	85694065	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:85694065G>C	ENST00000322366.6	-	30	5179	c.4772C>G	c.(4771-4773)tCt>tGt	p.S1591C	WDFY3_ENST00000295888.4_Missense_Mutation_p.S1591C			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1591						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAAGTAGAAGAAATAAACTG	0.328000													3	31					0	0	0.004672	0	0
FAM47B	170062	broad.mit.edu	37	X	34961344	34961344	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:34961344C>A	ENST00000329357.5	+	1	432	c.396C>A	c.(394-396)gcC>gcA	p.A132A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	132										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ATCCCTTGGCCATGTACCCCA	0.557000													62	62					3.79397e-19	4.81561e-19	0.003610	1	0
MAP3K19	80122	broad.mit.edu	37	2	135745613	135745613	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:135745613G>A	ENST00000375845.3	-	7	859	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.L294F|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.L164F	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GAAGACCTGAGAGTCGGATCC	0.478000													43	121					0	0	0.007835	0	0
DHX16	8449	broad.mit.edu	37	6	30640537	30640537	+	Missense_Mutation	SNP	G	G	C	rs148435034		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:30640537G>C	ENST00000376442.3	-	1	277	c.82C>G	c.(82-84)Cag>Gag	p.Q28E		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	28					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						ATCAGAAACTGGGCGACGTGC	0.672000													29	68					0	0	0.006320	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863013	10863013	+	RNA	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:10863013C>A	ENST00000559480.1	+	0	309																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TGGAGCTAAGCAGTCTGAGAT	0.507000													253	1037					1.21314e-62	1.90015e-62	0.003610	1	0
PRPF39	55015	broad.mit.edu	37	14	45584071	45584071	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:45584071G>C	ENST00000355765.6	+	14	2135	c.1965G>C	c.(1963-1965)caG>caC	p.Q655H		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	655					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ACAATTATCAGAATCCTTGGA	0.308000													4	55					0	0	0.009096	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529609	5529609	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:5529609G>T	ENST00000311659.4	-	2	1327	c.1180C>A	c.(1180-1182)Cag>Aag	p.Q394K	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	394										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAGAGGCTGGCCTGACCCA	0.577000													42	222					1.61863e-15	1.99155e-15	0.003610	1	0
AOX1	316	broad.mit.edu	37	2	201523948	201523948	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:201523948G>A	ENST00000374700.2	+	28	3473	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1078					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AACAAGCACAGAAACTGTCCC	0.438000													8	204					0	0	0.003080	0	0
HOXB8	3218	broad.mit.edu	37	17	46690639	46690639	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:46690639C>A	ENST00000239144.4	-	2	891	c.657G>T	c.(655-657)gaG>gaT	p.E219D	HOXB8_ENST00000576562.1_Missense_Mutation_p.E218D|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GTTTCTCCAGCTCCTCCTGCT	0.582000													90	126					9.54843e-35	1.3934e-34	0.003610	1	0
SPRR2D	6703	broad.mit.edu	37	1	153012673	153012673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:153012673G>T	ENST00000368757.1	-	2	430	c.150C>A	c.(148-150)tgC>tgA	p.C50*	SPRR2D_ENST00000368758.3_Nonsense_Mutation_p.C50*|SPRR2D_ENST00000368756.1_Nonsense_Mutation_p.C50*|SPRR2D_ENST00000360379.3_Nonsense_Mutation_p.C50*			P22532	SPR2D_HUMAN	small proline-rich protein 2D	50					keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATTTCTGCTGGCACTGCTGAG	0.592000													181	277					8.87325e-63	1.39199e-62	0.003610	1	0
ZIM2	23619	broad.mit.edu	37	19	57286456	57286456	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:57286456T>A	ENST00000391708.3	-	12	1726	c.1184A>T	c.(1183-1185)cAg>cTg	p.Q395L	ZIM2_ENST00000221722.5_Missense_Mutation_p.Q395L|ZIM2_ENST00000601070.1_Missense_Mutation_p.Q395L|ZIM2_ENST00000593711.1_Missense_Mutation_p.Q395L|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.Q395L|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ATTCGCACACTGGACGGAAGG	0.463000													55	96					0	0	0.003610	0	0
TRH	7200	broad.mit.edu	37	3	129695884	129695884	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:129695884G>A	ENST00000302649.3	+	3	1081	c.554G>A	c.(553-555)cGc>cAc	p.R185H	TRH_ENST00000507066.1_Missense_Mutation_p.R181H	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	185					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCTGAAAAACGCCAGCATCCG	0.627000													33	53					0	0	0.003755	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970704	45970704	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:45970704G>C	ENST00000391621.1	-	1	684	c.638C>G	c.(637-639)tCt>tGt	p.S213C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	213	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CTGGCAGCTAGACTGCTGGCA	0.642000													46	333					0	0	0.003610	0	0
FAM134B	54463	broad.mit.edu	37	5	16477889	16477889	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:16477889G>A	ENST00000306320.9	-	8	968	c.882C>T	c.(880-882)ctC>ctT	p.L294L	FAM134B_ENST00000399793.2_Silent_p.L153L	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	294					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CAGCAACCGTGAGGCTAATCT	0.413000													4	123					0	0	0.009096	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			5	41					0	0	0.003080	0	0
HTR3B	9177	broad.mit.edu	37	11	113780085	113780085	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:113780085C>A	ENST00000260191.2	+	2	378	c.121C>A	c.(121-123)Cag>Aag	p.Q41K	HTR3B_ENST00000537778.1_Missense_Mutation_p.Q30K	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	41					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GCAGCTATTACAGAAATATCA	0.418000													23	98					1.10923e-09	1.24851e-09	0.002780	1	0
GABRG2	2566	broad.mit.edu	37	5	161580209	161580209	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:161580209C>A	ENST00000356592.3	+	10	1723	c.1263C>A	c.(1261-1263)gaC>gaA	p.D421E	GABRG2_ENST00000414552.2_Missense_Mutation_p.D461E|GABRG2_ENST00000361925.4_Missense_Mutation_p.D413E|GABRG2_ENST00000393933.4_Missense_Mutation_p.D318E	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	413					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACGGCAAGGACTGTGCCAGTT	0.458000													49	93					5.34276e-22	7.03954e-22	0.003610	1	0
ASB10	136371	broad.mit.edu	37	7	150878331	150878331	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:150878331C>T	ENST00000422024.1	-	3	1059	c.934G>A	c.(934-936)Gag>Aag	p.E312K	ASB10_ENST00000275838.1_Missense_Mutation_p.E267K|ASB10_ENST00000420175.2_Missense_Mutation_p.E267K|ASB10_ENST00000377867.3_Missense_Mutation_p.E252K|ASB10_ENST00000434669.1_Missense_Mutation_p.E312K	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	267					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGGTGGCCTCGGCATCGGTG	0.657000													6	30					0	0	0.001984	0	0
RAPSN	5913	broad.mit.edu	37	11	47463472	47463472	+	Splice_Site	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:47463472T>A	ENST00000298854.2	-	4	905	c.690_splice	c.e4-1	p.E231_splice	RAPSN_ENST00000529341.1_Splice_Site_p.E231_splice|RAPSN_ENST00000524487.1_Splice_Site_p.E178_splice|RAPSN_ENST00000352508.3_Splice_Site_p.E231_splice	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	231					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						CTTCATAGACTCCTGCGAGGG	0.662000													7	12					0	0	0.001984	0	0
CELA3B	23436	broad.mit.edu	37	1	22310769	22310769	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:22310769C>T	ENST00000337107.6	+	6	606	c.587C>T	c.(586-588)tCc>tTc	p.S196F	CELA3B_ENST00000473526.1_3'UTR	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	196	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGGTGGGGTTCCTCCGTGAAG	0.612000													53	121					0	0	0.003610	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243781	1243781	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:1243781C>A	ENST00000324642.3	+	9	1366	c.1243C>A	c.(1243-1245)Cta>Ata	p.L415I	SLC6A18_ENST00000296821.4_Missense_Mutation_p.L344I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	415					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACCTTGGGGCTATCGACCAT	0.657000													31	95					2.08457e-15	2.55232e-15	0.010818	1	0
GRM8	2918	broad.mit.edu	37	7	126086280	126086280	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:126086280C>A	ENST00000339582.2	-	10	3385	c.2577G>T	c.(2575-2577)gtG>gtT	p.V859V	GRM8_ENST00000444921.2_Silent_p.V859V|GRM8_ENST00000358373.3_Silent_p.V859V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	859					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAGCTGTCACCACAGCCTTGA	0.423000										HNSCC(24;0.065)			104	58					9.16707e-34	1.32619e-33	0.003610	1	0
DERL1	79139	broad.mit.edu	37	8	124034969	124034969	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:124034969C>T	ENST00000259512.4	-	5	708	c.408G>A	c.(406-408)ctG>ctA	p.L136L	DERL1_ENST00000523036.1_Silent_p.L36L|DERL1_ENST00000419562.2_Intron|RP11-557C18.3_ENST00000521258.1_RNA|DERL1_ENST00000405944.3_Silent_p.L136L|DERL1_ENST00000519018.1_Silent_p.L36L	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	136					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTCTCTGTTCAGCTGGGCCC	0.413000											OREG0018957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	308					0	0	0.004482	0	0
CT47B1	643311	broad.mit.edu	37	X	120008850	120008850	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:120008850C>G	ENST00000371311.3	-	1	929	c.675G>C	c.(673-675)gaG>gaC	p.E225D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	225										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ctgGGGGTTTCTCATCTGCGG	0.701000													21	237					0	0	0.008871	0	0
NCAM1	4684	broad.mit.edu	37	11	113103515	113103515	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:113103515G>A	ENST00000316851.7	+	11	1471	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.E500K|NCAM1_ENST00000533760.1_Missense_Mutation_p.E373K	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	501	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)		GGAGTCCTTGGAATTCATCCT	0.502000													20	60					0	0	0.007413	0	0
INO80D	54891	broad.mit.edu	37	2	206869607	206869607	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:206869607C>A	ENST00000403263.1	-	11	2973	c.2569G>T	c.(2569-2571)Gca>Tca	p.A857S		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	857					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AAGGTAGCTGCCATATTATCA	0.527000													63	165					4.45325e-31	6.30616e-31	0.003610	1	0
MYC	4609	broad.mit.edu	37	8	128750661	128750661	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:128750661G>T	ENST00000377970.2	+	2	708	c.198G>T	c.(196-198)aaG>aaT	p.K66N	MYC_ENST00000259523.6_Missense_Mutation_p.K51N|MYC_ENST00000524013.1_Missense_Mutation_p.K65N	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	51					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K51K(1)|p.K66K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		ATATCTGGAAGAAATTCGAGC	0.657000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	71					2.2871e-25	3.1199e-25	0.007835	1	0
BPI	671	broad.mit.edu	37	20	36965553	36965553	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:36965553C>T	ENST00000262865.4	+	15	1520	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F		NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	477					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCTAGAACTTCCTGCTGTTCG	0.542000													92	234					0	0	0.003610	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961980	1961980	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:1961980C>G	ENST00000454677.2	-	2	756	c.691G>C	c.(691-693)Ggc>Cgc	p.G231R	HS3ST6_ENST00000443547.1_Missense_Mutation_p.G183R|HS3ST6_ENST00000293937.3_Missense_Mutation_p.G214R			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	183										endometrium(2)|lung(2)	4						TCCACGGGGCCCAGGCCGTGG	0.711000													42	16					0	0	0.007835	0	0
CLCN7	1186	broad.mit.edu	37	16	1499037	1499037	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:1499037T>A	ENST00000382745.4	-	19	2332	c.1727A>T	c.(1726-1728)aAc>aTc	p.N576I	CLCN7_ENST00000262318.8_Missense_Mutation_p.N552I|CLCN7_ENST00000448525.1_Missense_Mutation_p.N552I	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	576						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GTAGGTCACGTTGCTGGTGGC	0.622000													12	68					0	0	0.001368	0	0
COL13A1	1305	broad.mit.edu	37	10	71681686	71681686	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:71681686C>A	ENST00000356340.3	+	20	1641	c.1105C>A	c.(1105-1107)Cag>Aag	p.Q369K	COL13A1_ENST00000398964.3_Missense_Mutation_p.Q340K|COL13A1_ENST00000398972.3_Missense_Mutation_p.Q369K|COL13A1_ENST00000520133.1_Missense_Mutation_p.Q318K|COL13A1_ENST00000398971.3_Missense_Mutation_p.Q369K|COL13A1_ENST00000517713.1_Missense_Mutation_p.Q347K|COL13A1_ENST00000520267.1_Missense_Mutation_p.Q312K|COL13A1_ENST00000398969.3_Missense_Mutation_p.Q312K|COL13A1_ENST00000398973.3_Missense_Mutation_p.Q369K|COL13A1_ENST00000357811.3_Missense_Mutation_p.Q347K|COL13A1_ENST00000522165.1_Missense_Mutation_p.Q350K|COL13A1_ENST00000398978.3_Missense_Mutation_p.Q369K|COL13A1_ENST00000354547.3_Missense_Mutation_p.Q347K|COL13A1_ENST00000398968.3_Missense_Mutation_p.Q350K|COL13A1_ENST00000398966.3_Missense_Mutation_p.Q347K|COL13A1_ENST00000398974.3_Missense_Mutation_p.Q357K			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	369	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CCTCCTGGGGCAGAAGGTAGG	0.597000													14	13					1.49906e-05	1.57597e-05	0.002450	1	0
GPR61	83873	broad.mit.edu	37	1	110086457	110086457	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:110086457C>A	ENST00000527748.1	+	2	1496	c.813C>A	c.(811-813)gcC>gcA	p.A271A	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	271						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCTCGGGGGCCCCCCAGACCA	0.657000													57	101					2.47907e-22	3.28362e-22	0.003610	1	0
CSMD3	114788	broad.mit.edu	37	8	113293532	113293532	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:113293532G>T	ENST00000297405.5	-	59	9623	c.9379C>A	c.(9379-9381)Cga>Aga	p.R3127R	CSMD3_ENST00000352409.3_Silent_p.R3057R|CSMD3_ENST00000343508.3_Silent_p.R3087R|CSMD3_ENST00000455883.2_Silent_p.R2958R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3127	Sushi 23.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATCAATTCGGAAGACTTTC	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			48	71					5.13769e-22	6.78716e-22	0.003610	1	0
HMCN1	83872	broad.mit.edu	37	1	186120472	186120472	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:186120472C>T	ENST00000271588.4	+	94	14978	c.14749C>T	c.(14749-14751)Cgt>Tgt	p.R4917C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4917C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4917	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAATGTACCTCGTAGTCTTGG	0.323000													19	61					0	0	0.010504	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111862229	111862229	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:111862229G>T	ENST00000375741.2	+	5	661	c.411G>T	c.(409-411)ctG>ctT	p.L137L	ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000317133.5_Silent_p.L116L|ARHGEF7_ENST00000375737.5_Silent_p.L34L|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375739.2_Silent_p.L87L|ARHGEF7_ENST00000370623.3_Intron	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	137					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACATCGGGCTGGGGAGTGACT	0.527000													201	452					8.86189e-83	1.41228e-82	0.003610	1	0
HIBCH	26275	broad.mit.edu	37	2	191116925	191116925	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:191116925C>G	ENST00000392332.3	-	8	765	c.626G>C	c.(625-627)aGa>aCa	p.R209T	HIBCH_ENST00000359678.5_Missense_Mutation_p.R209T			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	209					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			AATTCCTGCTCTGTACACATC	0.388000													15	111					0	0	0.004990	0	0
PTPN11	5781	broad.mit.edu	37	12	112888228	112888228	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:112888228A>G	ENST00000351677.2	+	3	442	c.244A>G	c.(244-246)Atg>Gtg	p.M82V	PTPN11_ENST00000392597.1_Missense_Mutation_p.M82V	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	82	SH2 1.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CCAGTATTACATGGAACATCA	0.428000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				78	54					0	0	0.003610	0	0
MYO1F	4542	broad.mit.edu	37	19	8615449	8615449	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:8615449C>A	ENST00000338257.8	-	9	1168	c.901G>T	c.(901-903)Gac>Tac	p.D301Y		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	301	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CACTCACGGTCCACACTCTCC	0.612000													33	19					7.11191e-15	8.58216e-15	0.002836	1	0
MPHOSPH6	10200	broad.mit.edu	37	16	82182995	82182995	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:82182995T>A	ENST00000258169.4	-	4	319	c.269A>T	c.(268-270)cAg>cTg	p.Q90L	MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.Q61L	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	90					M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding			endometrium(1)|large_intestine(1)|lung(3)	5						AGCATTCATCTGAAGCATCAA	0.433000													71	63					0	0	0.003610	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	78					0	0	0.001168	0	0
TSSC1	7260	broad.mit.edu	37	2	3193150	3193150	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:3193150C>A	ENST00000398659.4	-	10	1340	c.1200G>T	c.(1198-1200)gtG>gtT	p.V400V	TSSC1_ENST00000382125.4_Silent_p.V373V|TSSC1_ENST00000478754.1_5'UTR			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	373							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CCCTGTTGATCACGAGCCTCC	0.602000													19	14					5.35267e-07	5.83505e-07	0.007413	1	0
PKD2L2	27039	broad.mit.edu	37	5	137243525	137243525	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:137243525A>G	ENST00000508638.1	+	7	1125	c.1070A>G	c.(1069-1071)gAt>gGt	p.D357G	PKD2L2_ENST00000350250.4_Missense_Mutation_p.D323G|PKD2L2_ENST00000508883.1_Missense_Mutation_p.D357G|PKD2L2_ENST00000502810.1_Missense_Mutation_p.D335G|PKD2L2_ENST00000290431.5_Missense_Mutation_p.D357G	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	357						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAATATTCAGATTTCTATTTT	0.274000													15	35					0	0	0.002450	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253354	32253354	+	Nonstop_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:32253354A>T	ENST00000332378.4	-	1	520	c.490T>A	c.(490-492)Taa>Aaa	p.*164K		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	0						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CTACACACTTAGCAGGTTCTT	0.567000													28	179					0	0	0.006320	0	0
CCDC34	91057	broad.mit.edu	37	11	27378962	27378962	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:27378962C>T	ENST00000317945.6	-	2	525	c.486G>A	c.(484-486)ctG>ctA	p.L162L	CCDC34_ENST00000328697.6_Silent_p.L162L	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	162										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CTAGAGCTTTCAGTTGCAGCC	0.398000													38	82					0	0	0.008740	0	0
TNRC6A	27327	broad.mit.edu	37	16	24804935	24804935	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:24804935C>G	ENST00000395799.3	+	7	3446	c.3317C>G	c.(3316-3318)tCc>tGc	p.S1106C	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S1106C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1106	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ACGTGGGGCTCCAGCTCTGTT	0.502000													22	184					0	0	0.012319	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806516	6806516	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:6806516C>A	ENST00000307401.4	+	1	269	c.248C>A	c.(247-249)gCg>gAg	p.A83E		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGGCCCTTGCGGACTTTCTG	0.572000													75	130					5.41795e-27	7.53411e-27	0.003610	1	0
DSG4	147409	broad.mit.edu	37	18	28991203	28991203	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:28991203C>A	ENST00000359747.4	+	14	2233	c.2204C>A	c.(2203-2205)aCc>aAc	p.T735N	DSG4_ENST00000308128.4_Missense_Mutation_p.T716N|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	716					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)			GAAATCTACACCAACACCTAT	0.617000													62	65					9.39563e-20	1.20475e-19	0.003610	1	0
COL5A2	1290	broad.mit.edu	37	2	189916209	189916209	+	Splice_Site	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:189916209T>A	ENST00000374866.3	-	42	3044		c.e42-2			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGGAGCTCCCTAGTATAACAA	0.562000													15	65					0	0	0.004007	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142300	55142300	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:55142300G>C	ENST00000370862.3	+	5	1221	c.885G>C	c.(883-885)caG>caC	p.Q295H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	295					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.Q295H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAATAAAGCAGATCCGAGCCA	0.498000													21	36					0	0	0.010504	0	0
RICTOR	253260	broad.mit.edu	37	5	38967476	38967476	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:38967476C>T	ENST00000357387.3	-	13	1144	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	RICTOR_ENST00000296782.5_Missense_Mutation_p.E372K	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	372					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GTTTTTGCCTCAGCTGCCACA	0.368000													15	110					0	0	0.003163	0	0
CAND1	55832	broad.mit.edu	37	12	67696224	67696224	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:67696224C>T	ENST00000545606.1	+	8	1559	c.1122C>T	c.(1120-1122)acC>acT	p.T374T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	374					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCTACAAGACCGTCTCTCCTG	0.433000													87	53					0	0	0.003610	0	0
CFHR5	81494	broad.mit.edu	37	1	196953194	196953194	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:196953194C>A	ENST00000367414.5	+	3	485	c.429C>A	c.(427-429)agC>agA	p.S143R	CFHR5_ENST00000256785.4_Missense_Mutation_p.S119R	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	119					complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CAGGATACAGCCTTCAAAACA	0.398000													28	39					1.45844e-13	1.73081e-13	0.002836	1	0
ATP8B4	79895	broad.mit.edu	37	15	50154487	50154487	+	Silent	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:50154487T>C	ENST00000284509.6	-	27	3393	c.3252A>G	c.(3250-3252)gcA>gcG	p.A1084A	ATP8B4_ENST00000559829.1_Silent_p.A1084A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1084					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)		AAAATCTGAATGCCACCACTG	0.423000													16	39					0	0	0.003163	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356939	104356939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:104356939C>A	ENST00000374806.1	-	1	344	c.274G>T	c.(274-276)Gag>Tag	p.E92*	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	89	EF-hand 3.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AACTTCTGCTCCTCGTCGCCC	0.537000													129	60					1.5108e-63	2.3775e-63	0.003610	1	0
CRISP3	10321	broad.mit.edu	37	6	49700930	49700930	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:49700930A>T	ENST00000433368.2	-	6	637	c.568T>A	c.(568-570)Tat>Aat	p.Y190N	CRISP3_ENST00000371159.4_Missense_Mutation_p.Y198N|CRISP3_ENST00000423399.2_Missense_Mutation_p.Y77N|CRISP3_ENST00000393666.1_Missense_Mutation_p.Y167N|CRISP3_ENST00000263045.4_Missense_Mutation_p.Y180N	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	167					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGGCAAACATAGTAGTATTTT	0.294000													70	112					0	0	0.003610	0	0
NALCN	259232	broad.mit.edu	37	13	101997749	101997749	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:101997749C>A	ENST00000251127.6	-	7	748	c.667G>T	c.(667-669)Gct>Tct	p.A223S	NALCN_ENST00000376196.3_Missense_Mutation_p.A223S|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	223						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTGGAATAGCTAAACTATTC	0.398000													54	129					5.57489e-27	7.72026e-27	0.003610	1	0
NIF3L1	60491	broad.mit.edu	37	2	201761901	201761901	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:201761901C>G	ENST00000409020.1	+	5	1123	c.829C>G	c.(829-831)Cat>Gat	p.H277D	NIF3L1_ENST00000359683.4_Missense_Mutation_p.H250D|NIF3L1_ENST00000409357.1_Missense_Mutation_p.H277D|NIF3L1_ENST00000409588.1_Intron|NIF3L1_ENST00000416651.1_Missense_Mutation_p.H277D			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	277					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						AAAACTATCTCATATTCGCTT	0.423000													34	139					0	0	0.003271	0	0
TPTE	7179	broad.mit.edu	37	21	10933891	10933891	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:10933891G>T	ENST00000298232.7	-	16	1301	c.934C>A	c.(934-936)Ctt>Att	p.L312I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.L330I|TPTE_ENST00000342420.5_Missense_Mutation_p.L292I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	330	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGTTTTCAAGATCTTGAGCC	0.318000													71	494					2.60632e-51	4.00113e-51	0.003610	1	0
NCAPD2	9918	broad.mit.edu	37	12	6635486	6635486	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:6635486C>T	ENST00000315579.5	+	20	3314	c.2515C>T	c.(2515-2517)Ctg>Ttg	p.L839L	NCAPD2_ENST00000545962.1_Silent_p.L794L|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	839					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCCCTTCCGGCTGCCTCAGGA	0.562000													80	48					0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993278	140993278	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:140993278G>T	ENST00000285879.4	+	4	374	c.88G>T	c.(88-90)Gac>Tac	p.D30Y	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	30							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGGGAGGACTCCCAGTC	0.577000										HNSCC(15;0.026)			71	90					2.69673e-31	3.82959e-31	0.003610	1	0
RASA3	22821	broad.mit.edu	37	13	114782760	114782760	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:114782760C>A	ENST00000334062.7	-	12	1280	c.1159G>T	c.(1159-1161)Gcg>Tcg	p.A387S	RASA3_ENST00000389544.4_Missense_Mutation_p.A355S|RASA3_ENST00000542651.1_3'UTR	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	387	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGCATCCCCGCCAGCTTCATG	0.612000											OREG0022538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	178					3.28615e-30	4.64036e-30	0.003610	1	0
RHPN2	85415	broad.mit.edu	37	19	33493188	33493188	+	Missense_Mutation	SNP	T	T	A	rs141887475	by1000genomes	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:33493188T>A	ENST00000254260.3	-	9	1105	c.1070A>T	c.(1069-1071)cAc>cTc	p.H357L	RHPN2_ENST00000400226.4_Missense_Mutation_p.H206L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	357	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.H357L(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGTGAAGTAGTGGGCCAGGGC	0.647000													4	158					0	0	0.003080	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581166	234581166	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:234581166G>A	ENST00000354728.4	+	1	668	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		AATTCTCTTAGGGTTCTCAGA	0.483000													12	545					0	0	0.001368	0	0
C1orf177	163747	broad.mit.edu	37	1	55277833	55277833	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:55277833C>G	ENST00000358193.3	+	6	787	c.733C>G	c.(733-735)Cca>Gca	p.P245A	C1orf177_ENST00000371273.3_Missense_Mutation_p.P245A	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	245										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						TCGGAGCAAGCCACTGCCTTA	0.572000													47	67					0	0	0.013114	0	0
DOCK5	80005	broad.mit.edu	37	8	25166439	25166439	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:25166439A>C	ENST00000276440.7	+	12	1234	c.1190A>C	c.(1189-1191)cAa>cCa	p.Q397P		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	397						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CACAAAGGGCAAGGTACAGTC	0.493000													18	22					0	0	0.007413	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250525	18250525	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:18250525G>T	ENST00000377369.2	+	3	550	c.277G>T	c.(277-279)Gca>Tca	p.A93S	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377374.4_Missense_Mutation_p.A93S|SLC39A12_ENST00000377371.3_Missense_Mutation_p.A93S	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	93					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGAACCAGATGCACTATTACT	0.373000													36	60					6.53348e-20	8.42055e-20	0.003755	1	0
NRP2	8828	broad.mit.edu	37	2	206610569	206610569	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:206610569G>T	ENST00000360409.3	+	10	2532	c.1741G>T	c.(1741-1743)Gcg>Tcg	p.A581S	NRP2_ENST00000412873.2_Missense_Mutation_p.A581S|NRP2_ENST00000357118.4_Missense_Mutation_p.A581S|NRP2_ENST00000540841.1_Missense_Mutation_p.A581S|NRP2_ENST00000272849.3_Missense_Mutation_p.A581S|NRP2_ENST00000357785.5_Missense_Mutation_p.A581S|NRP2_ENST00000540178.1_Missense_Mutation_p.A581S	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	581	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GTGGTCGCCGGCGGGGATTGG	0.582000													54	50					1.27862e-28	1.79292e-28	0.003610	1	0
SMTNL1	219537	broad.mit.edu	37	11	57309023	57309023	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:57309023C>A	ENST00000457912.1	+	1	45	c.45C>A	c.(43-45)gcC>gcA	p.A15A				E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	121										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CAGCAGAGGCCAGGGAGAGTA	0.507000													53	139					6.3091e-27	8.72498e-27	0.003610	1	0
BIRC7	79444	broad.mit.edu	37	20	61869809	61869809	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:61869809T>A	ENST00000217169.3	+	3	725	c.511T>A	c.(511-513)Tcc>Acc	p.S171T	BIRC7_ENST00000342412.6_Missense_Mutation_p.S171T|BIRC7_ENST00000395306.1_Missense_Mutation_p.S84T	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	171					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					GGAGACTCACTCCCAGCTGCT	0.622000													30	50					0	0	0.008361	0	0
WWC1	23286	broad.mit.edu	37	5	167891839	167891839	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:167891839G>T	ENST00000265293.4	+	21	3524	c.3022G>T	c.(3022-3024)Gag>Tag	p.E1008*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.E1014*|WWC1_ENST00000522140.1_3'UTR	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	1008	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)		ATTGACCCAGGAGATCTCGGT	0.607000													44	95					2.68985e-26	3.68936e-26	0.003610	1	0
CYP4F22	126410	broad.mit.edu	37	19	15648351	15648351	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:15648351G>T	ENST00000269703.2	+	6	626	c.427G>T	c.(427-429)Ggg>Tgg	p.G143W	CYP4F22_ENST00000601005.2_Missense_Mutation_p.G143W	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	143						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CCCAGGGGATGGGCTGCTGCT	0.557000													64	32					2.36135e-34	3.43097e-34	0.003610	1	0
HELZ	9931	broad.mit.edu	37	17	65163772	65163772	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:65163772C>T	ENST00000358691.5	-	14	1737	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E	HELZ_ENST00000580168.1_Missense_Mutation_p.G524E	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CACCAGTCGTCCAGCCAAAGT	0.418000													7	105					0	0	0.001984	0	0
TAF9	6880	broad.mit.edu	37	5	68660800	68660800	+	Silent	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000380818.3_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000217893.5_Silent_p.D255D	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	59						Cajal body	adenylate kinase activity|ATP binding|protein binding	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318000													4	122					0	0	0.009096	0	0
GRID1	2894	broad.mit.edu	37	10	87362310	87362310	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:87362310G>C	ENST00000327946.7	-	16	2835	c.2750C>G	c.(2749-2751)aCa>aGa	p.T917R	GRID1_ENST00000536331.1_Missense_Mutation_p.T488R|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	917						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GTACTCCCGTGTCGGCTCCAA	0.612000										Multiple Myeloma(13;0.14)			10	58					0	0	0.006214	0	0
METTL9	51108	broad.mit.edu	37	16	21611105	21611105	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:21611105G>A	ENST00000358154.3	+	1	309	c.51G>A	c.(49-51)ctG>ctA	p.L17L	METTL9_ENST00000396014.4_Silent_p.L17L	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	17										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		CCGTGTGGCTGGCGCGGAGGA	0.766000													5	22					0	0	0.000602	0	0
FTMT	94033	broad.mit.edu	37	5	121188292	121188292	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:121188292G>T	ENST00000321339.1	+	1	643	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	212	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		AGGTGACCACGTGCACAACTT	0.498000													78	177					1.88935e-48	2.87411e-48	0.003610	1	0
AMPH	273	broad.mit.edu	37	7	38505777	38505777	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:38505777G>C	ENST00000356264.2	-	8	877	c.662C>G	c.(661-663)gCg>gGg	p.A221G	AMPH_ENST00000428293.2_Missense_Mutation_p.A221G|AMPH_ENST00000325590.5_Missense_Mutation_p.A221G	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	221	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACTCACCACCGCAATTTCCTT	0.353000													28	58					0	0	0.007291	0	0
SETD2	29072	broad.mit.edu	37	3	47162371	47162371	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:47162371G>C	ENST00000409792.3	-	3	3797	c.3755C>G	c.(3754-3756)tCa>tGa	p.S1252*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAGCTCTTCTGATGAGTGCAA	0.453000			"""N, F, S, Mis"""		clear cell renal carcinoma								32	119					0	0	0.012213	0	0
PTPRT	11122	broad.mit.edu	37	20	40714455	40714455	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:40714455G>T	ENST00000373198.3	-	29	4186	c.3951C>A	c.(3949-3951)tgC>tgA	p.C1317*	PTPRT_ENST00000373193.3_Nonsense_Mutation_p.C1298*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.C1285*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.C1305*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.C1295*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.C1304*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.C1294*	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1295	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGCCCATAGCACCCGGAGG	0.542000													131	76					3.41043e-57	5.29223e-57	0.003610	1	0
OR51G2	81282	broad.mit.edu	37	11	4936269	4936269	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:4936269C>A	ENST00000322013.3	-	1	653	c.625G>T	c.(625-627)Gtc>Ttc	p.V209F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGTAGAGACGATGACAAAC	0.512000													25	40					5.35047e-06	5.69658e-06	0.003330	1	0
KMT2C	58508	broad.mit.edu	37	7	151970866	151970866	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:151970866T>A	ENST00000355193.2	-	7	1154	c.936A>T	c.(934-936)gcA>gcT	p.A312A	KMT2C_ENST00000262189.6_Silent_p.A312A					lysine (K)-specific methyltransferase 2C																		TGCCGGCTCCTGCAGCACAAG	0.438000													6	245					0	0	0.001168	0	0
CLCN1	1180	broad.mit.edu	37	7	143027884	143027884	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:143027884G>T	ENST00000343257.2	+	8	960	c.873G>T	c.(871-873)gaG>gaT	p.E291D	CLCN1_ENST00000495612.1_3'UTR	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	291			E -> K (in MCR).		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTAGCATCGAGGTCACCTCCA	0.557000													65	25					5.45122e-27	7.56989e-27	0.003610	1	0
SGIP1	84251	broad.mit.edu	37	1	67206405	67206405	+	Splice_Site	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:67206405G>C	ENST00000371037.4	+	23	2376	c.2299_splice	c.e23+1	p.G767_splice	SGIP1_ENST00000371035.3_Splice_Site_p.G557_splice|SGIP1_ENST00000371036.3_Splice_Site_p.G569_splice|SGIP1_ENST00000371039.1_Splice_Site_p.G570_splice|SGIP1_ENST00000435165.2_Splice_Site_p.G272_splice|SGIP1_ENST00000237247.6_Splice_Site_p.G798_splice	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	767					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGAAAATGGAGGTAATGGAAT	0.313000													11	20					0	0	0.008291	0	0
NT5DC1	221294	broad.mit.edu	37	6	116432034	116432034	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:116432034G>T	ENST00000319550.4	+	4	361	c.279G>T	c.(277-279)atG>atT	p.M93I		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	93							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GCACCAAGATGATGACTCCAG	0.493000													6	79					1.26484e-09	1.42207e-09	0.003080	1	0
CDKN2D	1032	broad.mit.edu	37	19	10677815	10677815	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:10677815G>C	ENST00000393599.2	-	2	744	c.420C>G	c.(418-420)ctC>ctG	p.L140L	CDKN2D_ENST00000335766.2_Silent_p.L140L	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	140					anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CCAAGGGTGTGAGACCCCTGG	0.612000													27	92					0	0	0.004656	0	0
NUP160	23279	broad.mit.edu	37	11	47857258	47857258	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:47857258G>C	ENST00000378460.2	-	7	1092	c.1046C>G	c.(1045-1047)tCc>tGc	p.S349C	NUP160_ENST00000532747.1_3'UTR|NUP160_ENST00000528071.1_Missense_Mutation_p.S235C|NUP160_ENST00000530326.1_Missense_Mutation_p.S235C	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	349					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CATGGTGGGGGAATAAGCAAG	0.458000													45	79					0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	90281197	90281197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:90281197G>T	ENST00000405460.2	+	85	18106	c.18010G>T	c.(18010-18012)Gag>Tag	p.E6004*	GPR98_ENST00000425867.2_Nonsense_Mutation_p.E1665*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6004					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			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)		GATGAATGATGAGCACACAGA	0.403000													13	37					9.31168e-06	9.84098e-06	0.001855	1	0
ADAM29	11086	broad.mit.edu	37	4	175898632	175898632	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:175898632C>A	ENST00000359240.3	+	5	2626	c.1956C>A	c.(1954-1956)aaC>aaA	p.N652K	ADAM29_ENST00000404450.4_Missense_Mutation_p.N652K|ADAM29_ENST00000445694.1_Missense_Mutation_p.N652K|ADAM29_ENST00000514159.1_Missense_Mutation_p.N652K	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	652	EGF-like.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACCCTCCCAACTGCCTGATAA	0.423000													29	40					1.74807e-11	2.01731e-11	0.010818	1	0
CCDC57	284001	broad.mit.edu	37	17	80137053	80137053	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:80137053C>T	ENST00000389641.4	-	9	1260	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	CCDC57_ENST00000392343.3_Silent_p.Q408Q|CCDC57_ENST00000327026.3_Intron|CCDC57_ENST00000392347.1_Silent_p.Q408Q			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	408										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCAGGGACAGCTGTTGCTTGT	0.587000													13	58					0	0	0.001368	0	0
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs71828885		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577000													3	123					0	0	0.004672	0	0
PTPRD	5789	broad.mit.edu	37	9	8376003	8376003	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:8376003G>C	ENST00000381196.4	-	36	5137	c.4594C>G	c.(4594-4596)Cta>Gta	p.L1532V	PTPRD_ENST00000537002.1_Missense_Mutation_p.L1122V|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1510V|PTPRD_ENST00000397617.3_Missense_Mutation_p.L1125V|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1519V|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1532V|PTPRD_ENST00000486161.1_Missense_Mutation_p.L1125V|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1532V|PTPRD_ENST00000355233.5_Missense_Mutation_p.L1126V|PTPRD_ENST00000397606.3_Missense_Mutation_p.L1125V|PTPRD_ENST00000397611.3_Missense_Mutation_p.L1122V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1532	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGAAAGCTAGAAAAGGTGTA	0.473000										TSP Lung(15;0.13)			4	119					0	0	0.009096	0	0
ATP8B2	57198	broad.mit.edu	37	1	154309845	154309845	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:154309845A>G	ENST00000368489.3	+	12	958	c.958A>G	c.(958-960)Atg>Gtg	p.M320V	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Missense_Mutation_p.M306V|ATP8B2_ENST00000368487.3_Missense_Mutation_p.M287V	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	306					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTGGTTTGCATGGGGGTGAT	0.542000													92	152					0	0	0.003610	0	0
NFASC	23114	broad.mit.edu	37	1	204971877	204971877	+	Splice_Site	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:204971877G>T	ENST00000367172.4	+	29	3938		c.e29+1		NFASC_ENST00000338515.6_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000338586.6_Splice_Site|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000495396.1_Splice_Site|NFASC_ENST00000401399.1_Splice_Site			O94856	NFASC_HUMAN	neurofascin						axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCAGTACAGGTGAGAGGGGA	0.552000													4	60					0.000602214	0.000622681	0.000602	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125685862	125685862	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:125685862G>T	ENST00000371126.1	-	1	972	c.730C>A	c.(730-732)Cac>Aac	p.H244N		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	244										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GGACGGATGTGGGCATATACG	0.652000													27	47					1.42536e-11	1.64868e-11	0.004656	1	0
OPN1LW	5956	broad.mit.edu	37	X	153420159	153420159	+	Missense_Mutation	SNP	T	T	C	rs148583295	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:153420159T>C	ENST00000369951.4	+	4	749	c.689T>C	c.(688-690)aTc>aCc	p.I230T	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	230			I -> T (in dbSNP:rs1065425).		phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTGCATCATCCCACTCGCT	0.612000													71	322					0	0	0.003610	0	0
FOXO4	4303	broad.mit.edu	37	X	70320988	70320988	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:70320988G>T	ENST00000374259.3	+	2	1240	c.908G>T	c.(907-909)gGt>gTt	p.G303V	FOXO4_ENST00000341558.3_Missense_Mutation_p.G248V	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	303					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CTCAATGAAGGTCTAGAGCTG	0.572000											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	30					1.22574e-08	1.35683e-08	0.002299	1	0
EFCAB12	90288	broad.mit.edu	37	3	129137199	129137199	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:129137199G>A	ENST00000505956.1	-	3	741	c.579C>T	c.(577-579)taC>taT	p.Y193Y	EFCAB12_ENST00000326085.3_Silent_p.Y193Y	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		GGCTATGCAGGTAGGAGTACA	0.597000													11	29					0	0	0.008291	0	0
LACC1	144811	broad.mit.edu	37	13	44455682	44455682	+	Splice_Site	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:44455682A>T	ENST00000441843.1	+	2	1046	c.562_splice	c.e2+1	p.P187_splice	LACC1_ENST00000325686.6_Splice_Site_p.P187_splice	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	187																	CTTTGATCCCAGGTATATTAA	0.343000													23	56					0	0	0.002299	0	0
RPGR	6103	broad.mit.edu	37	X	38158228	38158228	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:38158228C>G	ENST00000378505.2	-	10	1402	c.1226G>C	c.(1225-1227)cGt>cCt	p.R409P	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Missense_Mutation_p.R409P|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000339363.3_Missense_Mutation_p.R409P|RPGR_ENST00000338898.3_Missense_Mutation_p.R409P|RPGR_ENST00000318842.7_Missense_Mutation_p.R409P	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	409					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCGCCGCATACGTGCTGATAG	0.378000													21	51					0	0	0.003954	0	0
NLRP5	126206	broad.mit.edu	37	19	56539809	56539809	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:56539809G>T	ENST00000390649.3	+	7	2210	c.2210G>T	c.(2209-2211)cGg>cTg	p.R737L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	737						mitochondrion|nucleolus	ATP binding	p.R737L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGGAAAATTCGGGTGGATGTC	0.502000													71	373					2.40655e-23	3.21728e-23	0.003610	1	0
UNC13D	201294	broad.mit.edu	37	17	73831096	73831096	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:73831096G>C	ENST00000207549.4	-	21	2276	c.1897C>G	c.(1897-1899)Cta>Gta	p.L633V	UNC13D_ENST00000412096.2_Missense_Mutation_p.L633V	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	633	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGTGGATAGATCCACCGCT	0.592000									Familial Hemophagocytic Lymphohistiocytosis				17	112					0	0	0.004007	0	0
DOCK9	23348	broad.mit.edu	37	13	99534165	99534165	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:99534165C>A	ENST00000376460.1	-	24	2736	c.2656G>T	c.(2656-2658)Gtc>Ttc	p.V886F	DOCK9_ENST00000448493.2_Missense_Mutation_p.V898F|DOCK9_ENST00000442173.1_Missense_Mutation_p.V886F|DOCK9_ENST00000339416.2_Missense_Mutation_p.V887F	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	887					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTAACCGCGACTTCTTCCTGT	0.532000													5	18					1.23904e-05	1.30398e-05	0.000602	1	0
MAF1	84232	broad.mit.edu	37	8	145161115	145161115	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:145161115G>C	ENST00000534585.1	+	4	740	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	MAF1_ENST00000322428.5_Missense_Mutation_p.E117Q|MAF1_ENST00000532522.1_Missense_Mutation_p.E117Q			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	117					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus				central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCAGCCATGAGTTCAGCCG	0.612000													13	155					0	0	0.001368	0	0
OR10A5	144124	broad.mit.edu	37	11	6867170	6867170	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:6867170T>A	ENST00000299454.4	+	1	288	c.257T>A	c.(256-258)cTg>cAg	p.L86Q	OR10A5_ENST00000379831.2_Missense_Mutation_p.L90Q			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGGGGACCCTGCTTGCCCAG	0.502000													78	135					0	0	0.003610	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237251	30237251	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:30237251A>T	ENST00000378988.4	+	2	655	c.554A>T	c.(553-555)gAc>gTc	p.D185V		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	185	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GACAAGGTAGACCTCACTGAT	0.502000													13	14					0	0	0.001855	0	0
SOX5	6660	broad.mit.edu	37	12	23757416	23757416	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:23757416G>C	ENST00000546136.1	-	8	1032	c.1030C>G	c.(1030-1032)Ctg>Gtg	p.L344V	SOX5_ENST00000545921.1_Missense_Mutation_p.L347V|SOX5_ENST00000451604.2_Missense_Mutation_p.L357V|SOX5_ENST00000381381.2_Missense_Mutation_p.L344V|SOX5_ENST00000309359.1_Missense_Mutation_p.L344V|SOX5_ENST00000541536.1_Missense_Mutation_p.L344V|SOX5_ENST00000537393.1_Missense_Mutation_p.L322V			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	357					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ATGCCTGGCAGCTTCCCTCCT	0.488000													31	74					0	0	0.004878	0	0
OR8D1	283159	broad.mit.edu	37	11	124179778	124179778	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:124179778C>A	ENST00000357821.2	-	1	955	c.885G>T	c.(883-885)aaG>aaT	p.K295N		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TCTTCACATCCTTATTCCTCA	0.418000													23	80					1.87028e-06	2.00402e-06	0.012319	1	0
OR4M2	390538	broad.mit.edu	37	15	22368914	22368914	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:22368914C>A	ENST00000332663.2	+	1	437	c.339C>A	c.(337-339)ttC>ttA	p.F113L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CGGAGATGTTCTTGCTCACAG	0.468000													72	423					7.46257e-40	1.11329e-39	0.003610	1	0
NOTCH4	4855	broad.mit.edu	37	6	32166826	32166826	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:32166826A>G	ENST00000375023.3	-	24	4550	c.4412T>C	c.(4411-4413)aTc>aCc	p.I1471T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1471					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCGACGCCGGATGAGCTGGAG	0.682000													44	93					0	0	0.007835	0	0
PTPRF	5792	broad.mit.edu	37	1	44064417	44064417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:44064417G>T	ENST00000359947.4	+	13	2486	c.2146G>T	c.(2146-2148)Gag>Tag	p.E716*	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Nonsense_Mutation_p.E716*|PTPRF_ENST00000372413.3_Nonsense_Mutation_p.E716*|PTPRF_ENST00000372414.3_Nonsense_Mutation_p.E716*|PTPRF_ENST00000422171.2_Nonsense_Mutation_p.E73*	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	716	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCGGAAGGTGGAGGTGGAGCC	0.612000													63	61					3.06529e-49	4.67003e-49	0.003610	1	0
EPPK1	83481	broad.mit.edu	37	8	144940824	144940824	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:144940824G>T	ENST00000525985.1	-	2	6669	c.6598C>A	c.(6598-6600)Ctg>Atg	p.L2200M				P58107	EPIPL_HUMAN	epiplakin 1	2200						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGTTTCCAGGTCCTGGAGC	0.587000													44	506					9.39024e-22	1.234e-21	0.009718	1	0
GABRA1	2554	broad.mit.edu	37	5	161318005	161318005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:161318005C>T	ENST00000428797.2	+	9	1160	c.805C>T	c.(805-807)Caa>Taa	p.Q269*	GABRA1_ENST00000023897.6_Nonsense_Mutation_p.Q269*|GABRA1_ENST00000437025.2_Nonsense_Mutation_p.Q269*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.Q269*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.Q269*|GABRA1_ENST00000420560.1_Nonsense_Mutation_p.Q269*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	269					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GATTCTCTCACAAGTCTCCTT	0.408000													42	80					0	0	0.009718	0	0
CUX2	23316	broad.mit.edu	37	12	111779639	111779639	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:111779639G>T	ENST00000261726.6	+	21	3595	c.3441G>T	c.(3439-3441)ccG>ccT	p.P1147P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGAGTCCCCGGCCACCCGCT	0.667000													69	36					3.07281e-33	4.42626e-33	0.003610	1	0
ADPRHL1	113622	broad.mit.edu	37	13	114077292	114077292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:114077292C>A	ENST00000356501.4	-	7	839	c.664G>T	c.(664-666)Gag>Tag	p.E222*	ADPRHL1_ENST00000375418.3_Nonsense_Mutation_p.E304*	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	304					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GCCGCGCTCTCCCCTGAAACG	0.642000													52	100					9.16383e-17	1.14009e-16	0.003610	1	0
SLC1A3	6507	broad.mit.edu	37	5	36677035	36677035	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:36677035C>A	ENST00000265113.4	+	6	1085	c.609C>A	c.(607-609)atC>atA	p.I203I	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Silent_p.I203I	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	203					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AAGTGCCCATCCAGGCCAACG	0.398000													13	52					7.93312e-07	8.60135e-07	0.002450	1	0
NID1	4811	broad.mit.edu	37	1	236157056	236157056	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:236157056C>A	ENST00000264187.6	-	13	2726	c.2644G>T	c.(2644-2646)Ggg>Tgg	p.G882W	NID1_ENST00000366595.3_Missense_Mutation_p.G749W	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	882	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCGTAGTGCCCGTGCGCATCG	0.697000													20	29					1.10513e-12	1.29621e-12	0.002299	1	0
COL4A3	1285	broad.mit.edu	37	2	228137787	228137787	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:228137787G>C	ENST00000396578.3	+	26	2043	c.1881G>C	c.(1879-1881)caG>caC	p.Q627H	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	627	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTGGTCTCCAGGGCACGCAAG	0.617000													33	129					0	0	0.003755	0	0
HECTD1	25831	broad.mit.edu	37	14	31592131	31592131	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:31592131C>T	ENST00000399332.1	-	27	5592	c.5104G>A	c.(5104-5106)Gag>Aag	p.E1702K	HECTD1_ENST00000553700.1_Missense_Mutation_p.E1702K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1702					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATAACCTCCTCGTATTCTTGG	0.388000													38	140					0	0	0.006230	0	0
TOMM70A	9868	broad.mit.edu	37	3	100105689	100105689	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:100105689G>C	ENST00000284320.5	-	2	906	c.458C>G	c.(457-459)tCt>tGt	p.S153C		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	153					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ATAAAATGTAGAAAGGTCAAC	0.348000													4	78					0	0	0.009096	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666671	19666671	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:19666671C>T	ENST00000284885.3	-	21	2435	c.2402G>A	c.(2401-2403)gGt>gAt	p.G801D		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	801	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						ATAATACAGACCCACAACCCA	0.532000													32	254					0	0	0.003755	0	0
MCTS1	28985	broad.mit.edu	37	X	119746095	119746095	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:119746095G>A	ENST00000371315.3	+	6	1058	c.525G>A	c.(523-525)ctG>ctA	p.L175L	RP4-655L22.2_ENST00000424799.1_RNA|MCTS1_ENST00000487133.1_3'UTR|MCTS1_ENST00000371317.5_Silent_p.L174L	NM_001137554.1	NP_001131026.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	174					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						ATGATGGGCTGTGGCATATGA	0.353000													6	182					0	0	0.001984	0	0
FRY	10129	broad.mit.edu	37	13	32811588	32811588	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:32811588G>A	ENST00000380250.3	+	44	6379	c.5883G>A	c.(5881-5883)atG>atA	p.M1961I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1961					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AACTAAACATGAACCCGGGAA	0.478000													5	112					0	0	0.001168	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996289	143996289	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:143996289G>T	ENST00000323110.2	-	4	633	c.631C>A	c.(631-633)Ctg>Atg	p.L211M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	211					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TGGCCAACCAGGCCCAGCCGC	0.617000									Familial Hyperaldosteronism type I				45	72					1.62263e-30	2.29453e-30	0.003610	1	0
UTRN	7402	broad.mit.edu	37	6	144758806	144758806	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:144758806G>C	ENST00000367545.3	+	10	1165	c.1165G>C	c.(1165-1167)Gag>Cag	p.E389Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	389	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGAAGAATTTGAGATTCAGGA	0.507000													8	105					0	0	0.003080	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57088056	57088056	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:57088056C>A	ENST00000532437.1	-	2	536	c.225G>T	c.(223-225)ttG>ttT	p.L75F	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L75F			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	75	Arg/Glu/Lys/Pro-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGGCAGAAGGCAACTCAGCCA	0.677000													32	40					4.74835e-14	5.67541e-14	0.010818	1	0
SYNPO2L	79933	broad.mit.edu	37	10	75407041	75407041	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:75407041G>C	ENST00000394810.2	-	4	2518	c.2369C>G	c.(2368-2370)tCt>tGt	p.S790C	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.S566C|SYNPO2L_ENST00000372872.4_Intron	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	790	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGGGGTAGGAGAAGGACTTCT	0.592000													56	280					0	0	0.003610	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89246937	89246937	+	RNA	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:89246937C>G	ENST00000496168.1	-	0	413																											TGGGACCCCACTTTCTAAACT	0.507000													86	165					0	0	0.003610	0	0
RFC4	5984	broad.mit.edu	37	3	186508170	186508170	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:186508170C>A	ENST00000392481.2	-	9	1108	c.827G>T	c.(826-828)gGa>gTa	p.G276V	RFC4_ENST00000433496.1_Intron|RFC4_ENST00000296273.2_Missense_Mutation_p.G276V	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	276					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.G276A(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AGCAAATACTCCATCAATTTT	0.418000													30	63					5.60225e-13	6.59397e-13	0.009535	1	0
ETNPPL	64850	broad.mit.edu	37	4	109663766	109663766	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:109663766C>T	ENST00000296486.3	-	13	1528	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	ETNPPL_ENST00000512646.1_Missense_Mutation_p.M400I|ETNPPL_ENST00000411864.2_Missense_Mutation_p.M452I|ETNPPL_ENST00000510706.1_Missense_Mutation_p.M418I	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		CTTCTTTCAGCATCTGCAAGA	0.483000													28	90					0	0	0.007291	0	0
C1orf168	199920	broad.mit.edu	37	1	57257879	57257879	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:57257879G>T	ENST00000343433.6	-	2	687	c.607C>A	c.(607-609)Ccc>Acc	p.P203T	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	203										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						AATATTTTGGGGGCCACCACG	0.493000													79	138					1.09326e-46	1.65805e-46	0.003610	1	0
SUN3	256979	broad.mit.edu	37	7	48046872	48046872	+	Nonsense_Mutation	SNP	C	C	A	rs145833872		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:48046872C>A	ENST00000453192.2	-	6	589	c.346G>T	c.(346-348)Gaa>Taa	p.E116*	SUN3_ENST00000395572.2_Nonsense_Mutation_p.E128*|SUN3_ENST00000297325.4_Nonsense_Mutation_p.E128*|SUN3_ENST00000412142.1_Nonsense_Mutation_p.E28*			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	128						integral to membrane		p.E128K(2)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTATTTGTTCGATCAAAAAT	0.418000													63	80					5.7554e-21	7.48501e-21	0.003610	1	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933555	31933555	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:31933555G>T	ENST00000334849.2	-	1	78	c.54C>A	c.(52-54)ttC>ttA	p.F18L		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	18						intermediate filament		p.F18F(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						CCAGGCCACCGAATCCTCCAC	0.557000													25	187					1.10923e-09	1.24851e-09	0.002780	1	0
OBSCN	84033	broad.mit.edu	37	1	228547904	228547904	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:228547904C>G	ENST00000284548.11	+	81	19385	c.19311C>G	c.(19309-19311)gcC>gcG	p.A6437A	OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Silent_p.A3556A|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Ig-like 54.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGGAGACGCCTTTGTGACGG	0.637000													21	64					0	0	0.010504	0	0
ADAM2	2515	broad.mit.edu	37	8	39626924	39626924	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:39626924C>A	ENST00000265708.4	-	12	1302	c.1199G>T	c.(1198-1200)tGt>tTt	p.C400F	ADAM2_ENST00000379853.2_Missense_Mutation_p.C274F|ADAM2_ENST00000521880.1_Missense_Mutation_p.C400F|ADAM2_ENST00000347580.4_Missense_Mutation_p.C381F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	400	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTCAGTCCCACAGTCACACTC	0.423000													33	110					4.11147e-13	4.85067e-13	0.003755	1	0
CELSR3	1951	broad.mit.edu	37	3	48699679	48699679	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:48699679C>G	ENST00000544264.1	-	1	669	c.389G>C	c.(388-390)gGg>gCg	p.G130A	CELSR3_ENST00000164024.4_Missense_Mutation_p.G130A			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	130					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAACACAGACCCTGGTCCCTG	0.622000													72	174					0	0	0.003610	0	0
OPN4	94233	broad.mit.edu	37	10	88419123	88419123	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:88419123G>T	ENST00000372071.2	+	6	958	c.731G>T	c.(730-732)cGt>cTt	p.R244L	OPN4_ENST00000241891.5_Missense_Mutation_p.R233L	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	233					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CCGGCCGTGCGTGCCTACACC	0.592000													40	123					5.48756e-27	7.60982e-27	0.011902	1	0
DAZAP1	26528	broad.mit.edu	37	19	1434826	1434826	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:1434826G>T	ENST00000233078.4	+	12	1300	c.1139G>T	c.(1138-1140)gGg>gTg	p.G380V	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	380	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGTGCCAGGGTcggggggc	0.706000													22	18					1.22574e-08	1.35683e-08	0.002299	1	0
VPS13D	55187	broad.mit.edu	37	1	12567033	12567033	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:12567033C>T	ENST00000358136.3	+	69	13051	c.12921C>T	c.(12919-12921)ctC>ctT	p.L4307L	VPS13D_ENST00000543766.1_Silent_p.L305L|VPS13D_ENST00000356315.4_Silent_p.L4282L|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000543710.1_Silent_p.L111L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4306					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACGATGACCTCTACCACTGCC	0.527000													9	197					0	0	0.004482	0	0
ZNF791	163049	broad.mit.edu	37	19	12735466	12735466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:12735466G>T	ENST00000343325.4	+	3	295	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000458122.3_Nonsense_Mutation_p.E13*|ZNF791_ENST00000446165.1_Intron|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CATTTTAGGGGAAAAATGGGA	0.328000													6	18					0.00116845	0.00120074	0.001168	1	0
TMEM110	375346	broad.mit.edu	37	3	52886638	52886638	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:52886638C>T	ENST00000355083.5	-	3	431	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.E96K	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		GGGTCCTCTTCAGTGAGATCT	0.443000													9	218					0	0	0.010729	0	0
MGAT4C	25834	broad.mit.edu	37	12	86374139	86374139	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:86374139G>A	ENST00000604798.1	-	8	1569	c.365C>T	c.(364-366)tCa>tTa	p.S122L	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.S122L|MGAT4C_ENST00000393205.2_Missense_Mutation_p.S151L|MGAT4C_ENST00000332156.1_Missense_Mutation_p.S122L|MGAT4C_ENST00000552808.2_Missense_Mutation_p.S122L|MGAT4C_ENST00000549405.2_Missense_Mutation_p.S122L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	122					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTCAAAAATTGACTTAATTGT	0.373000													10	52					0	0	0.006214	0	0
IGLV5-45	28781	broad.mit.edu	37	22	22730622	22730622	+	RNA	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:22730622C>T	ENST00000390296.2	+	0	145																											CAGCCAGTCTCACCTGCACCT	0.537000													52	41					0	0	0.003610	0	0
C1orf94	84970	broad.mit.edu	37	1	34667797	34667797	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:34667797G>C	ENST00000488417.1	+	4	1503	c.1383G>C	c.(1381-1383)tgG>tgC	p.W461C	C1orf94_ENST00000373374.3_Missense_Mutation_p.W271C	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	271							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGCCACTCTGGCTCAACCTGA	0.522000													38	87					0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21230494	21230494	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:21230494G>T	ENST00000233242.1	-	26	9373	c.9246C>A	c.(9244-9246)gcC>gcA	p.A3082A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3082					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGCTTGCTGGGCACTGGGAC	0.413000													145	66					5.77923e-69	9.15197e-69	0.003610	1	0
COL28A1	340267	broad.mit.edu	37	7	7412854	7412854	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:7412854C>A	ENST00000399429.3	-	32	2823	c.2683G>T	c.(2683-2685)Gta>Tta	p.V895L		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	895	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACTTTTTTTACACCTGGCCTT	0.488000													47	92					5.34276e-22	7.03954e-22	0.003610	1	0
KLC4	89953	broad.mit.edu	37	6	43034856	43034856	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:43034856G>A	ENST00000458460.2	+	6	972	c.914G>A	c.(913-915)cGc>cAc	p.R305H	KLC4_ENST00000394058.1_Intron|KLC4_ENST00000347162.5_Intron|KLC4_ENST00000453940.2_Intron|KLC4_ENST00000394056.2_Intron|KLC4_ENST00000259708.3_Intron|KLC4_ENST00000479388.1_Intron	NM_138343.2	NP_612352.1	Q9NSK0	KLC4_HUMAN	kinesin light chain 4	0						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding	p.R305H(1)		endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CCCACGCCCCGCACCCCCCAC	0.587000													6	41					0	0	0.001984	0	0
AC096579.13	0	broad.mit.edu	37	2	89117929	89117929	+	RNA	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:89117929C>G	ENST00000452230.1	-	0	53																											GGATCCAGACCCAGAACCCAA	0.468000													21	16					0	0	0.002299	0	0
COL4A4	1286	broad.mit.edu	37	2	228004950	228004950	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:228004950C>A	ENST00000396625.3	-	4	326	c.119G>T	c.(118-120)gGa>gTa	p.G40V	COL4A4_ENST00000329662.7_Missense_Mutation_p.G40V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	40	7S domain.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTATTTCTTTCCACTCTGGAA	0.413000													26	107					4.7796e-09	5.32009e-09	0.004656	1	0
SMTNL1	219537	broad.mit.edu	37	11	57309022	57309022	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:57309022C>A	ENST00000457912.1	+	1	44	c.44C>A	c.(43-45)gCc>gAc	p.A15D				E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	121										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TCAGCAGAGGCCAGGGAGAGT	0.512000													53	138					1.78197e-24	2.41118e-24	0.003610	1	0
RETSAT	54884	broad.mit.edu	37	2	85571210	85571210	+	Missense_Mutation	SNP	C	C	A	rs147993013		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:85571210C>A	ENST00000295802.4	-	9	1557	c.1445G>T	c.(1444-1446)cGg>cTg	p.R482L	RETSAT_ENST00000457495.2_Missense_Mutation_p.R421L|RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000263854.6_Intron	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	482					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GTCACTGCCCCGCTTTCCCTT	0.537000													89	46					8.6838e-40	1.29163e-39	0.003610	1	0
LRRC7	57554	broad.mit.edu	37	1	70484492	70484492	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:70484492G>T	ENST00000310961.5	+	16	1730	c.1312G>T	c.(1312-1314)Ggt>Tgt	p.G438C	LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.G433C			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	433						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCAGCCTCGTGGTGATGAAGG	0.388000													24	38					1.55469e-16	1.92231e-16	0.003330	1	0
OR8D1	283159	broad.mit.edu	37	11	124180649	124180649	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:124180649T>A	ENST00000357821.2	-	1	84	c.14A>T	c.(13-15)aAt>aTt	p.N5I		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CATAGAATAATTTTCCATGGT	0.418000													15	108					0	0	0.004007	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413889	61413889	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:61413889C>T	ENST00000395348.3	-	5	1531	c.895G>A	c.(895-897)Gct>Act	p.A299T	SLC16A9_ENST00000395347.1_Missense_Mutation_p.A299T	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	299					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TTAAAAAGAGCCACAGTTTCA	0.368000													58	76					0	0	0.003610	0	0
FAM65C	140876	broad.mit.edu	37	20	49225195	49225195	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:49225195C>G	ENST00000327979.2	-	10	1164	c.753G>C	c.(751-753)gaG>gaC	p.E251D	FAM65C_ENST00000045083.2_Missense_Mutation_p.E251D|FAM65C_ENST00000535356.1_Missense_Mutation_p.E255D			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	251										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCCTTCTCCTCTTCGTCCC	0.642000													60	231					0	0	0.003610	0	0
ERLEC1	27248	broad.mit.edu	37	2	54041746	54041746	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:54041746T>A	ENST00000185150.4	+	12	1424	c.1293T>A	c.(1291-1293)acT>acA	p.T431T	ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000378239.5_Silent_p.T377T|ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000405123.3_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	431					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GACAGGTGACTGTAAAACTAA	0.318000													28	23					0	0	0.009535	0	0
MYH11	4629	broad.mit.edu	37	16	15844070	15844070	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:15844070C>A	ENST00000338282.6	-	16	2089	c.1983G>T	c.(1981-1983)ctG>ctT	p.L661L	MYH11_ENST00000396324.3_Silent_p.L668L|MYH11_ENST00000452625.2_Silent_p.L668L|MYH11_ENST00000576790.1_Silent_p.L661L|MYH11_ENST00000300036.5_Silent_p.L661L	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	661	Actin-binding (By similarity).|Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCAGCTTGCCCAGCTGCTCCT	0.632000			T	CBFB	AML								60	68					9.40535e-28	1.31152e-27	0.003610	1	0
KCNA4	3739	broad.mit.edu	37	11	30033093	30033093	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:30033093C>G	ENST00000328224.6	-	2	2366	c.1133G>C	c.(1132-1134)tGt>tCt	p.C378S		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	378						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCATACAATACAGACTGTTTC	0.458000													43	72					0	0	0.009718	0	0
COPS3	8533	broad.mit.edu	37	17	17174123	17174123	+	Splice_Site	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:17174123T>C	ENST00000539941.2	-	4	447		c.e4-2		COPS3_ENST00000268717.5_Splice_Site|COPS3_ENST00000439936.2_Splice_Site	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3						cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCCCAGCAACTAGATACAATA	0.294000													3	8					0	0	0.004672	0	0
MYH4	4622	broad.mit.edu	37	17	10367813	10367813	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:10367813C>T	ENST00000255381.2	-	7	734	c.624G>A	c.(622-624)gaG>gaA	p.E208E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	208	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						AGGCAGGTTCCTCTTTTTTCT	0.423000													41	24					0	0	0.006230	0	0
KCNA10	3744	broad.mit.edu	37	1	111061349	111061349	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:111061349C>T	ENST00000369771.2	-	1	448	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	21						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TCTTGGATTTCATCTGAATTA	0.522000													4	55					0	0	0.009096	0	0
IGKV1D-42	28892	broad.mit.edu	37	2	90229437	90229437	+	RNA	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:90229437G>T	ENST00000390278.2	+	0	277																											AGGTTCAGTGGCAGGGGATCT	0.478000													94	116					1.40862e-40	2.10454e-40	0.003610	1	0
EEPD1	80820	broad.mit.edu	37	7	36194470	36194470	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:36194470G>T	ENST00000242108.4	+	2	1255	c.537G>T	c.(535-537)agG>agT	p.R179S	EEPD1_ENST00000534978.1_Missense_Mutation_p.R179S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	179					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ACCTAGTGAGGATGGATGGTA	0.612000													55	114					1.4709e-25	2.01197e-25	0.003610	1	0
EYS	346007	broad.mit.edu	37	6	66094307	66094307	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:66094307C>A	ENST00000503581.1	-	8	1808	c.1271G>T	c.(1270-1272)tGg>tTg	p.W424L	EYS_ENST00000342421.5_Missense_Mutation_p.W424L|EYS_ENST00000370618.3_Missense_Mutation_p.W424L|EYS_ENST00000393380.2_Missense_Mutation_p.W424L|EYS_ENST00000370616.2_Missense_Mutation_p.W424L|EYS_ENST00000370621.3_Missense_Mutation_p.W424L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	424					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTGAAACACCATTCTTCATT	0.318000													21	27					3.01185e-09	3.37112e-09	0.003954	1	0
BRINP1	1620	broad.mit.edu	37	9	121929747	121929747	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:121929747C>A	ENST00000265922.3	-	8	2362	c.1901G>T	c.(1900-1902)gGc>gTc	p.G634V	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		634					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GGGGCCCTGGCCAGTCTCATT	0.542000													189	93					3.56531e-90	5.6909e-90	0.003610	1	0
PLXNA4	91584	broad.mit.edu	37	7	132193099	132193099	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:132193099G>A	ENST00000359827.3	-	2	1316	c.354C>T	c.(352-354)ctC>ctT	p.L118L	PLXNA4_ENST00000321063.4_Silent_p.L118L|PLXNA4_ENST00000378539.5_Silent_p.L118L|PLXNA4_ENST00000423507.2_Silent_p.L118L			Q9HCM2	PLXA4_HUMAN	plexin A4	118	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGTCTATGAGGAGCATCTTGT	0.577000													37	64					0	0	0.005524	0	0
HAND2	9464	broad.mit.edu	37	4	174448469	174448469	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:174448469C>A	ENST00000359562.4	-	2	1552	c.613G>T	c.(613-615)Ggc>Tgc	p.G205C	HAND2-AS1_ENST00000512099.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	205					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TGCGGCCAGCCCGTCCGGCCT	0.587000													58	124					4.09171e-25	5.55896e-25	0.003610	1	0
AIM1	202	broad.mit.edu	37	6	106969284	106969284	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:106969284G>T	ENST00000369066.3	+	2	3464	c.2977G>T	c.(2977-2979)Gac>Tac	p.D993Y		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	993							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAGCCGGTATGACCCAAGCAT	0.358000													56	36					3.53049e-34	5.12227e-34	0.003610	1	0
USP40	55230	broad.mit.edu	37	2	234421213	234421213	+	Splice_Site	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:234421213A>G	ENST00000251722.6	-	19	2552		c.e19+1		USP40_ENST00000427112.2_Splice_Site|USP40_ENST00000450966.1_Splice_Site			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAAAAGATTTACCTGGACAAA	0.318000													13	23					0	0	0.003163	0	0
SNHG14	104472715	broad.mit.edu	37	15	25467422	25467422	+	RNA	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:25467422C>G	ENST00000424208.1	+	0	3156				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TCCCTGGTCTCTTGCACTGAG	0.592000													29	61					0	0	0.005443	0	0
KIN	22944	broad.mit.edu	37	10	7808025	7808025	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:7808025C>A	ENST00000379562.3	-	9	887	c.840G>T	c.(838-840)tgG>tgT	p.W280C	KIN_ENST00000543003.1_Missense_Mutation_p.W174C|KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Missense_Mutation_p.W280C			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	280					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CAGGCTGTAGCCAGTAGTCTG	0.318000													19	62					1.64113e-05	1.72173e-05	0.010504	1	0
MNDA	4332	broad.mit.edu	37	1	158812024	158812024	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:158812024C>A	ENST00000368141.4	+	2	342	c.81C>A	c.(79-81)tcC>tcA	p.S27S	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	27	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAATTAAGTCCTTACTGGCCT	0.338000													28	47					4.7796e-09	5.32009e-09	0.004656	1	0
BCKDHB	594	broad.mit.edu	37	6	80878689	80878689	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:80878689G>T	ENST00000545529.1	+	5	603	c.575G>T	c.(574-576)gGg>gTg	p.G192V	BCKDHB_ENST00000320393.6_Missense_Mutation_p.G192V|BCKDHB_ENST00000369760.4_Missense_Mutation_p.G192V|BCKDHB_ENST00000356489.5_Missense_Mutation_p.G192V			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	192					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GTTGGTCATGGGGCTCTCTAT	0.433000													66	75					4.67498e-28	6.54628e-28	0.003610	1	0
NEB	4703	broad.mit.edu	37	2	152543993	152543993	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:152543993G>A	ENST00000427231.2	-	27	2779	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L	NEB_ENST00000604864.1_Silent_p.L859L|NEB_ENST00000409198.1_Silent_p.L859L|NEB_ENST00000172853.10_Silent_p.L859L|NEB_ENST00000397345.3_Silent_p.L859L|NEB_ENST00000603639.1_Silent_p.L859L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	859					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTAATGCTGAGGGCTCCAA	0.438000													93	256					0	0	0.003610	0	0
AHCY	191	broad.mit.edu	37	20	32879309	32879309	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:32879309C>A	ENST00000538132.1	-	5	776	c.390G>T	c.(388-390)acG>acT	p.T130T	AHCY_ENST00000217426.2_Silent_p.T158T|AHCY_ENST00000468908.1_5'UTR	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	158					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGACCCCAGTCGTGGTCTCCT	0.547000													94	98					1.63847e-34	2.38409e-34	0.003610	1	0
CLPTM1L	81037	broad.mit.edu	37	5	1318514	1318514	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:1318514C>G	ENST00000320895.5	-	17	1844	c.1587G>C	c.(1585-1587)gaG>gaC	p.E529D	CLPTM1L_ENST00000320927.6_Missense_Mutation_p.E493D|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.E360D	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	529					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GCGTGGCCTTCTCCTCGTAGG	0.557000													20	121					0	0	0.012319	0	0
CFHR5	81494	broad.mit.edu	37	1	196953195	196953195	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:196953195C>A	ENST00000367414.5	+	3	486	c.430C>A	c.(430-432)Ctt>Att	p.L144I	CFHR5_ENST00000256785.4_Missense_Mutation_p.L120I	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	120					complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGGATACAGCCTTCAAAACAA	0.398000													27	39					1.45844e-13	1.73081e-13	0.002836	1	0
FASTKD2	22868	broad.mit.edu	37	2	207652733	207652733	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:207652733G>C	ENST00000236980.6	+	9	2015	c.1667G>C	c.(1666-1668)aGg>aCg	p.R556T	FASTKD2_ENST00000403094.3_Missense_Mutation_p.R556T|FASTKD2_ENST00000402774.3_Missense_Mutation_p.R556T	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	556					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GTCTATCTGAGGGACATAGCC	0.453000													21	70					0	0	0.010504	0	0
SULT6B1	391365	broad.mit.edu	37	2	37414550	37414550	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:37414550T>A	ENST00000535679.1	-	2	259	c.260A>T	c.(259-261)tAt>tTt	p.Y87F	SULT6B1_ENST00000379149.2_Missense_Mutation_p.Y87F|SULT6B1_ENST00000407963.1_Missense_Mutation_p.Y49F|SULT6B1_ENST00000260637.3_Missense_Mutation_p.Y49F			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	87						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TGGATATTTATACTTTTTTTT	0.323000													26	20					0	0	0.003610	0	0
SYNE3	161176	broad.mit.edu	37	14	95932297	95932297	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:95932297C>A	ENST00000334258.5	-	3	612	c.598G>T	c.(598-600)Gag>Tag	p.E200*	SYNE3_ENST00000557275.1_Nonsense_Mutation_p.E200*|SYNE3_ENST00000553340.1_Nonsense_Mutation_p.E200*	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						GCATCGTACTCAGCCTTCATT	0.602000													16	57					3.41278e-10	3.89367e-10	0.004990	1	0
CCDC141	285025	broad.mit.edu	37	2	179736888	179736888	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:179736888C>A	ENST00000420890.2	-	13	2168	c.2051G>T	c.(2050-2052)tGg>tTg	p.W684L	CCDC141_ENST00000295723.5_Missense_Mutation_p.W109L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	109							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)			GAATGCCGCCCACTGCTGTTT	0.478000													39	42					1.04594e-18	1.32257e-18	0.006230	1	0
MYH13	8735	broad.mit.edu	37	17	10265445	10265445	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:10265445G>A	ENST00000418404.3	-	4	658	c.495C>T	c.(493-495)ttC>ttT	p.F165F	MYH13_ENST00000252172.4_Silent_p.F165F|MYH13_ENST00000570743.1_Silent_p.F165F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	165	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAGTCAGCATGAACTGATAGG	0.483000													61	213					0	0	0.003610	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90577087	90577087	+	RNA	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:90577087G>C	ENST00000551025.1	+	0	5515							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTGTACAACAGAAGAGCTAGT	0.413000													12	83					0	0	0.010729	0	0
ZNF683	257101	broad.mit.edu	37	1	26688394	26688394	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:26688394C>T	ENST00000436292.1	-	7	1443	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	ZNF683_ENST00000403843.1_Silent_p.L441L|ZNF683_ENST00000349618.3_Silent_p.L421L|ZNF683_ENST00000374204.1_Silent_p.L421L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGTGCAGCTTCAGGTGGATGT	0.677000													7	111					0	0	0.003080	0	0
SI	6476	broad.mit.edu	37	3	164757711	164757711	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:164757711C>T	ENST00000264382.3	-	19	2270	c.2208G>A	c.(2206-2208)tgG>tgA	p.W736*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	736	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)	ATGCAGGGCCCCACAAAAACT	0.338000										HNSCC(35;0.089)			4	218					0	0	0.001168	0	0
NUTM1	256646	broad.mit.edu	37	15	34648927	34648927	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:34648927T>A	ENST00000537011.1	+	8	3100	c.2718T>A	c.(2716-2718)ccT>ccA	p.P906P	NUTM1_ENST00000333756.4_Silent_p.P878P|NUTM1_ENST00000438749.3_Silent_p.P896P					NUT midline carcinoma, family member 1																		CCTCCTTGCCTGAAGCCAGTC	0.498000													24	66					0	0	0.002780	0	0
TNS1	7145	broad.mit.edu	37	2	218686627	218686627	+	Silent	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:218686627T>G	ENST00000171887.4	-	23	3548	c.3096A>C	c.(3094-3096)acA>acC	p.T1032T	TNS1_ENST00000430930.1_Silent_p.T1011T|TNS1_ENST00000419504.1_Silent_p.T1019T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1032						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CAGCCACCGCTGTCCGTGCCA	0.637000													8	5					0	0	0.004482	0	0
ESR1	2099	broad.mit.edu	37	6	152332868	152332868	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:152332868G>A	ENST00000440973.1	+	7	1544	c.1174G>A	c.(1174-1176)Gtc>Atc	p.V392I	ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.V280I|ESR1_ENST00000443427.1_Missense_Mutation_p.V392I|ESR1_ENST00000544394.1_Missense_Mutation_p.V219I|ESR1_ENST00000206249.3_Missense_Mutation_p.V392I|ESR1_ENST00000338799.5_Missense_Mutation_p.V392I	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	392	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GATTGGTCTCGTCTGGCGCTC	0.498000													7	131					0	0	0.001984	0	0
CCDC39	339829	broad.mit.edu	37	3	180364997	180364997	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:180364997G>A	ENST00000273654.4	-	17	2268	c.1649C>T	c.(1648-1650)tCa>tTa	p.S550L	CCDC39_ENST00000442201.2_Missense_Mutation_p.S466L			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	466					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTTTAACCGTGACATTCTCCG	0.318000													7	44					0	0	0.001984	0	0
FGF2	2247	broad.mit.edu	37	4	123813428	123813428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:123813428C>A	ENST00000264498.3	+	3	812	c.744C>A	c.(742-744)taC>taA	p.Y248*		NM_002006.4	NP_001997.5	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	248					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	ACAATACTTACCGGTCAAGGA	0.363000													19	44					7.45023e-12	8.67752e-12	0.010504	1	0
SUPT5H	6829	broad.mit.edu	37	19	39948326	39948326	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:39948326G>C	ENST00000599117.1	+	5	620	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	SUPT5H_ENST00000598725.1_Missense_Mutation_p.E85Q|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E85Q|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E85Q|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E85Q			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	85	Glu-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGTTGACGATGAGTATGAGGA	0.532000													28	136					0	0	0.010818	0	0
CNTN5	53942	broad.mit.edu	37	11	99715877	99715877	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:99715877G>T	ENST00000524871.1	+	6	750	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	CNTN5_ENST00000528682.1_Missense_Mutation_p.D154Y|CNTN5_ENST00000418526.2_Missense_Mutation_p.D80Y|CNTN5_ENST00000279463.3_Missense_Mutation_p.D154Y|CNTN5_ENST00000527185.1_Missense_Mutation_p.D154Y	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	154	Ig-like C2-type 1.				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)		CAGTTTGATAGATGGCACCTT	0.383000													34	99					6.50621e-10	7.38106e-10	0.002836	1	0
RYR1	6261	broad.mit.edu	37	19	38946102	38946102	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:38946102C>A	ENST00000355481.4	+	15	1719	c.1588C>A	c.(1588-1590)Cgt>Agt	p.R530S	RYR1_ENST00000360985.3_Missense_Mutation_p.R530S|RYR1_ENST00000359596.3_Missense_Mutation_p.R530S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	530			R -> H (in MHS1).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R530C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTCTCTAATCCGTGGCAATCG	0.582000													65	163					1.33661e-31	1.90348e-31	0.003610	1	0
ANKRD16	54522	broad.mit.edu	37	10	5929981	5929981	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:5929981C>G	ENST00000380094.5	-	2	907	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	ANKRD16_ENST00000380092.4_Missense_Mutation_p.E122Q|ANKRD16_ENST00000191063.8_Missense_Mutation_p.E122Q	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	122										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						TCCACCAGCTCCTGGATCACC	0.537000													47	233					0	0	0.003610	0	0
BRDT	676	broad.mit.edu	37	1	92430257	92430257	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:92430257C>T	ENST00000370389.2	+	3	971	c.47C>T	c.(46-48)gCg>gTg	p.A16V	BRDT_ENST00000362005.3_Missense_Mutation_p.A89V|BRDT_ENST00000399546.2_Missense_Mutation_p.A89V|BRDT_ENST00000402388.1_Missense_Mutation_p.A89V|BRDT_ENST00000394530.3_Intron	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.A89V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAATATTATGCGAAGGCTTCA	0.274000													24	45					0	0	0.002780	0	0
CACNA1F	778	broad.mit.edu	37	X	49076962	49076962	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:49076962C>T	ENST00000376265.2	-	19	2450	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E732K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E786K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	797	Poly-Glu.				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCCTCCTCTTCCTCTTTCTCC	0.587000													5	19					0	0	0.000602	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33581407	33581407	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:33581407C>T	ENST00000321505.4	+	6	3257	c.3077C>T	c.(3076-3078)gCt>gTt	p.A1026V	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A1032V|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A1032V					KIAA1549-like																		CAGCTCTCGGCTGAGCTGGTG	0.592000													73	205					0	0	0.003610	0	0
MOBP	4336	broad.mit.edu	37	3	39543980	39543980	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:39543980G>A	ENST00000311042.6	+	4	382	c.233G>A	c.(232-234)aGa>aAa	p.R78K	MOBP_ENST00000447324.1_Intron|MOBP_ENST00000354668.4_Intron|MOBP_ENST00000396228.1_Intron|MOBP_ENST00000441980.2_Intron|MOBP_ENST00000479860.1_Intron|MOBP_ENST00000420739.1_Intron|MOBP_ENST00000383754.3_Intron|MOBP_ENST00000428261.1_Intron|MOBP_ENST00000415443.1_Intron	NM_001278322.1	NP_001265251.1	Q13875	MOBP_HUMAN	myelin-associated oligodendrocyte basic protein	68	Pro-rich.				nervous system development	nucleolus|perinuclear region of cytoplasm|soluble fraction				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				KIRC - Kidney renal clear cell carcinoma(284;0.082)|Kidney(284;0.0998)		TTAAGCAGCAGAGGAGAGCCC	0.657000													4	5					0	0	0.009096	0	0
CROCC	9696	broad.mit.edu	37	1	17295727	17295727	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:17295727G>T	ENST00000375541.5	+	32	5262	c.5193G>T	c.(5191-5193)ctG>ctT	p.L1731L		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1731					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCGGGGCCTGACAGAGGCCC	0.657000													33	11					1.99505e-19	2.54515e-19	0.012213	1	0
SVIL	6840	broad.mit.edu	37	10	29779846	29779846	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:29779846G>A	ENST00000375398.2	-	24	4571	c.4122C>T	c.(4120-4122)ctC>ctT	p.L1374L	SVIL_ENST00000355867.4_Silent_p.L1374L|SVIL_ENST00000538146.1_Silent_p.L166L|SVIL_ENST00000375400.3_Silent_p.L948L|SVIL_ENST00000535393.1_Silent_p.L288L			O95425	SVIL_HUMAN	supervillin	1374					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ATTCCTGAAGGAGATCTTCTC	0.527000													14	120					0	0	0.004007	0	0
DCHS1	8642	broad.mit.edu	37	11	6661762	6661762	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:6661762G>T	ENST00000299441.3	-	2	1494	c.1083C>A	c.(1081-1083)tcC>tcA	p.S361S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	361	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACAGTCATGGAGGGCTGAT	0.582000													55	127					2.41709e-19	3.07964e-19	0.003610	1	0
GNAZ	2781	broad.mit.edu	37	22	23438506	23438506	+	Silent	SNP	G	G	A	rs34937804	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:23438506G>A	ENST00000248996.4	+	2	1290	c.624G>A	c.(622-624)gaG>gaA	p.E208E	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	208						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGAGGTCAGAGCGCAAAAAGT	0.567000													174	86					0	0	0.003610	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959964	45959964	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:45959964C>G	ENST00000400375.1	-	1	114	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	24						keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CAGCAGCTCTCTGGGCAGGCA	0.706000													124	76					0	0	0.003610	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181263	57181263	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:57181263C>T	ENST00000504228.1	+	6	1700	c.1595C>T	c.(1594-1596)aCc>aTc	p.T532I	KIAA1211_ENST00000264229.6_Missense_Mutation_p.T532I|KIAA1211_ENST00000541073.1_Missense_Mutation_p.T525I			Q6ZU35	K1211_HUMAN	KIAA1211	532										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGAGACAGACCATGCCCCGG	0.647000													22	26					0	0	0.003954	0	0
FAN1	22909	broad.mit.edu	37	15	31197848	31197848	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:31197848G>C	ENST00000362065.4	+	2	1273	c.982G>C	c.(982-984)Gat>Cat	p.D328H	FAN1_ENST00000561594.1_Missense_Mutation_p.D328H|FAN1_ENST00000561607.1_Missense_Mutation_p.D328H|FAN1_ENST00000565466.1_Missense_Mutation_p.D328H	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	328					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TAGTTCTGCAGATGATGCTTC	0.433000								Direct reversal of damage					4	59					0	0	0.009096	0	0
MARCH11	441061	broad.mit.edu	37	5	16067857	16067857	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:16067857C>T	ENST00000332432.8	-	4	1131	c.932G>A	c.(931-933)cGc>cAc	p.R311H		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	311						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AGCTCGCCAGCGCTTAAACAC	0.428000													43	47					0	0	0.011902	0	0
SORCS2	57537	broad.mit.edu	37	4	7728547	7728547	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:7728547C>T	ENST00000507866.2	+	21	2895	c.2786C>T	c.(2785-2787)tCg>tTg	p.S929L	SORCS2_ENST00000329016.9_Missense_Mutation_p.S757L	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	929						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACGCGGTTTTCGGACACGGGC	0.662000													7	223					0	0	0.001984	0	0
GALNTL6	442117	broad.mit.edu	37	4	173269725	173269725	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:173269725C>T	ENST00000506823.1	+	5	1095	c.438C>T	c.(436-438)atC>atT	p.I146I	GALNTL6_ENST00000457021.1_3'UTR|GALNTL6_ENST00000508122.1_Silent_p.I129I	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	146	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCATCATTATCCCATTTCATA	0.413000													28	96					0	0	0.010818	0	0
ASB5	140458	broad.mit.edu	37	4	177138085	177138085	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:177138085A>G	ENST00000296525.3	-	6	859	c.746T>C	c.(745-747)gTa>gCa	p.V249A	ASB5_ENST00000512254.1_Missense_Mutation_p.V196A	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	249					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CAGTAAGTTTACAATTTCTGT	0.408000													53	108					0	0	0.003610	0	0
AP3B2	8120	broad.mit.edu	37	15	83331452	83331452	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:83331452C>T	ENST00000261722.3	-	22	2977	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	AP3B2_ENST00000535359.1_Missense_Mutation_p.E943K|AP3B2_ENST00000535348.1_Missense_Mutation_p.E892K|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	924					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCACCAATTTCGGGAAATTCT	0.577000													5	14					0	0	0.000602	0	0
DNAH3	55567	broad.mit.edu	37	16	21031015	21031015	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:21031015C>A	ENST00000261383.3	-	41	5952	c.5953G>T	c.(5953-5955)Ggc>Tgc	p.G1985C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1985					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATCCATGCCCATGATCAGG	0.443000													7	125					0.00198382	0.0020324	0.001984	1	0
RIMBP2	23504	broad.mit.edu	37	12	130926751	130926751	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:130926751G>T	ENST00000261655.4	-	8	1258	c.1095C>A	c.(1093-1095)cgC>cgA	p.R365R	RIMBP2_ENST00000535703.1_Silent_p.R273R|RIMBP2_ENST00000536002.1_Silent_p.R273R	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	365	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCACGGAGATGCGGTAGGTGC	0.632000													66	23					4.45325e-31	6.30616e-31	0.003610	1	0
PLA2R1	22925	broad.mit.edu	37	2	160813073	160813073	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:160813073G>A	ENST00000283243.7	-	21	3176	c.2970C>T	c.(2968-2970)ttC>ttT	p.F990F	PLA2R1_ENST00000392771.1_Silent_p.F990F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	990	C-type lectin 6.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTTCAGCACAGAAATGTTGAG	0.438000													5	117					0	0	0.001168	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394318	39394318	+	Silent	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:39394318T>C	ENST00000254072.6	+	1	22	c.15T>C	c.(13-15)tgT>tgC	p.C5C		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	5						keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCCACTGTTGTTCCCCTTGCT	0.572000													4	163					0	0	0.009096	0	0
YRDC	79693	broad.mit.edu	37	1	38272561	38272561	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:38272561G>A	ENST00000373044.2	-	3	596	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F		NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	198	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGGAGCTGAGGTTGGCACTA	0.507000													6	126					0	0	0.001984	0	0
LPPR4	9890	broad.mit.edu	37	1	99764620	99764620	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:99764620G>A	ENST00000370185.3	+	4	1065	c.568G>A	c.(568-570)Gct>Act	p.A190T	LPPR4_ENST00000370184.1_Missense_Mutation_p.A32T|LPPR4_ENST00000457765.1_Missense_Mutation_p.A190T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		190							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ATGCTCTACAGCTCTCATTAC	0.368000													18	62					0	0	0.007413	0	0
UTP15	84135	broad.mit.edu	37	5	72874903	72874903	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:72874903G>C	ENST00000296792.4	+	11	1463	c.1208G>C	c.(1207-1209)aGa>aCa	p.R403T	UTP15_ENST00000543251.1_Missense_Mutation_p.R213T|UTP15_ENST00000508491.1_Missense_Mutation_p.R384T	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	403					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TTAAATCGAAGAGGAGTCCTT	0.378000													4	60					0	0	0.000602	0	0
OR2A4	79541	broad.mit.edu	37	6	132022492	132022492	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:132022492G>C	ENST00000315453.2	-	1	143	c.50C>G	c.(49-51)cCc>cGc	p.P17R	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		TGGGCCAACGGGAAATCCCAG	0.493000													18	85					0	0	0.002780	0	0
URGCP	55665	broad.mit.edu	37	7	43916471	43916471	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:43916471C>T	ENST00000336086.6	-	4	4698	c.2462G>A	c.(2461-2463)gGc>gAc	p.G821D	URGCP_ENST00000453200.1_Missense_Mutation_p.G864D|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.G821D|URGCP_ENST00000223341.7_Missense_Mutation_p.G821D|URGCP_ENST00000447717.3_Missense_Mutation_p.G821D|URGCP_ENST00000402306.3_Missense_Mutation_p.G855D|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	864					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAGGCCAGGCCTGCCAGTGC	0.637000													6	132					0	0	0.001984	0	0
ULK2	9706	broad.mit.edu	37	17	19705183	19705183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:19705183C>A	ENST00000395544.4	-	16	1847	c.1348G>T	c.(1348-1350)Gga>Tga	p.G450*	ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_Nonsense_Mutation_p.G450*	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	450					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GAGCATGATCCCGGCCGGAGG	0.502000													85	328					9.24773e-40	1.37348e-39	0.003610	1	0
PDZRN3	23024	broad.mit.edu	37	3	73432844	73432844	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:73432844G>T	ENST00000263666.4	-	10	2987	c.2873C>A	c.(2872-2874)aCc>aAc	p.T958N	PDZRN3_ENST00000466780.1_Missense_Mutation_p.T615N|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T615N|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T680N|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T675N	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	958							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTCGTCGGTGGTCATGCCGCT	0.682000													28	63					4.87955e-14	5.82529e-14	0.005443	1	0
PFKM	5213	broad.mit.edu	37	12	48527166	48527166	+	Missense_Mutation	SNP	G	G	A	rs150522604		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:48527166G>A	ENST00000340802.6	+	8	933	c.709G>A	c.(709-711)Gac>Aac	p.D237N	PFKM_ENST00000547587.1_Missense_Mutation_p.D166N|PFKM_ENST00000395233.2_Missense_Mutation_p.D166N|PFKM_ENST00000359794.5_Missense_Mutation_p.D166N|PFKM_ENST00000312352.7_Missense_Mutation_p.D166N|PFKM_ENST00000551804.1_Missense_Mutation_p.D166N	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	166					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGGGTCAATTGACAATGACTT	0.507000													33	91					0	0	0.010818	0	0
APLP1	333	broad.mit.edu	37	19	36362795	36362795	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:36362795G>T	ENST00000221891.4	+	6	899	c.707G>T	c.(706-708)aGa>aTa	p.R236I	APLP1_ENST00000537454.2_Missense_Mutation_p.R197I|APLP1_ENST00000586861.1_Missense_Mutation_p.R230I	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	236					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)			CCGGGGAGCAGAGTAGAGGGG	0.632000													35	245					9.17885e-22	1.20781e-21	0.003271	1	0
SLC22A12	116085	broad.mit.edu	37	11	64359265	64359265	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:64359265G>T	ENST00000377574.1	+	1	984	c.237G>T	c.(235-237)ccG>ccT	p.P79P	SLC22A12_ENST00000336464.7_Silent_p.P79P|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Silent_p.P79P|SLC22A12_ENST00000377572.1_Silent_p.P79P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	79					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CCATCCCGCCGGGCCCCAACC	0.687000													11	79					5.16669e-11	5.93519e-11	0.010729	1	0
DOCK3	1795	broad.mit.edu	37	3	51418789	51418789	+	Silent	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:51418789T>C	ENST00000266037.9	+	53	5915	c.5892T>C	c.(5890-5892)ccT>ccC	p.P1964P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1964						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCGTCATCCCTCAGGACCCCA	0.677000													3	72					0	0	0.004672	0	0
LILRA6	79168	broad.mit.edu	37	19	54744744	54744744	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:54744744C>A	ENST00000440558.2	-	5	966	c.918G>T	c.(916-918)tgG>tgT	p.W306C	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Missense_Mutation_p.W306C|LILRA6_ENST00000419410.2_Missense_Mutation_p.W306C|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.W306C					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGGCCGACCACTCGGAGG	0.687000													37	29					9.84934e-19	1.24858e-18	0.010771	1	0
MT1H	4496	broad.mit.edu	37	16	56704873	56704873	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:56704873C>G	ENST00000332374.4	+	3	229	c.158C>G	c.(157-159)gCg>gGg	p.A53G	MT1H_ENST00000569155.1_3'UTR	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	53	Alpha.						metal ion binding|protein binding	p.A53V(2)		lung(5)	5						TGCAAAGGGGCGTCAGAGAAG	0.532000													12	126					0	0	0.002450	0	0
VPS33B	26276	broad.mit.edu	37	15	91561108	91561108	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:91561108C>T	ENST00000333371.3	-	2	457	c.104G>A	c.(103-105)gGa>gAa	p.G35E	VPS33B_ENST00000535843.1_5'UTR|VPS33B_ENST00000557358.1_Intron|VPS33B_ENST00000535906.1_Intron	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	35					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATCCTTTTTTCCAGGAAGCTG	0.498000													5	98					0	0	0.001984	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389251	1389251	+	Nonsense_Mutation	SNP	G	G	T	rs71299249		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:1389251G>T	ENST00000324803.4	+	1	3912	c.952G>T	c.(952-954)Gag>Tag	p.E318*		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	318					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCCCATATGGAGTGCCCGCC	0.667000													259	341					2.85331e-160	4.58356e-160	0.003610	1	0
RYR1	6261	broad.mit.edu	37	19	38987127	38987127	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:38987127C>T	ENST00000355481.4	+	41	6873	c.6742C>T	c.(6742-6744)Cgc>Tgc	p.R2248C	RYR1_ENST00000360985.3_Missense_Mutation_p.R2248C|RYR1_ENST00000359596.3_Missense_Mutation_p.R2248C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2248	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGAACCAGCGCTCCATGTT	0.622000													63	191					0	0	0.003610	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882807	64882807	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:64882807G>T	ENST00000279263.7	+	8	1076	c.914G>T	c.(913-915)cGt>cTt	p.R305L	TM7SF2_ENST00000540748.1_Missense_Mutation_p.R189L|TM7SF2_ENST00000345348.5_Intron	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	305					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TACATCTTCCGTGGGGCGAAT	0.557000													21	219					3.62473e-10	4.1308e-10	0.012319	1	0
SLC27A6	28965	broad.mit.edu	37	5	128362826	128362826	+	Splice_Site	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:128362826G>T	ENST00000262462.4	+	7	2266	c.1255_splice	c.e7-1	p.G419_splice	SLC27A6_ENST00000506176.1_Splice_Site_p.G419_splice|SLC27A6_ENST00000395266.1_Splice_Site_p.G419_splice			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	419					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTCTTGCAGGAGAACCTGGA	0.388000													18	55					2.35188e-11	2.71101e-11	0.006122	1	0
SLC17A3	10786	broad.mit.edu	37	6	25862648	25862648	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:25862648T>C	ENST00000397060.4	-	3	225	c.116A>G	c.(115-117)tAt>tGt	p.Y39C	SLC17A3_ENST00000360657.3_Missense_Mutation_p.Y39C|SLC17A3_ENST00000361703.6_Missense_Mutation_p.Y39C	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	39					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GGCTATTCCATAGCGAGCAGA	0.353000													85	68					0	0	0.003610	0	0
FRMD7	90167	broad.mit.edu	37	X	131234703	131234703	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:131234703G>T	ENST00000298542.4	-	2	274	c.99C>A	c.(97-99)agC>agA	p.S33R	RP1-305B16.2_ENST00000513703.1_RNA|FRMD7_ENST00000464296.1_Missense_Mutation_p.S33R	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	33	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GATTTAGATGGCTGCAACTCA	0.378000													29	81					1.75199e-13	2.07428e-13	0.007291	1	0
OR4C3	256144	broad.mit.edu	37	11	48347244	48347244	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:48347244G>T	ENST00000319856.4	+	1	773	c.752G>T	c.(751-753)aGg>aTg	p.R251M		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TACTCCTTGAGGTCCCACAGT	0.488000													34	106					3.67414e-24	4.94482e-24	0.012213	1	0
TPTE	7179	broad.mit.edu	37	21	10907001	10907001	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:10907001T>A	ENST00000298232.7	-	23	1873	c.1506A>T	c.(1504-1506)aaA>aaT	p.K502N	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.K520N|TPTE_ENST00000342420.5_Missense_Mutation_p.K482N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	520	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGCTTTTTGTTTATGTAGAT	0.343000													13	124					0	0	0.001855	0	0
NLRP8	126205	broad.mit.edu	37	19	56482046	56482046	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:56482046C>A	ENST00000291971.3	+	6	2589	c.2518C>A	c.(2518-2520)Cag>Aag	p.Q840K	NLRP8_ENST00000590542.1_Missense_Mutation_p.Q840K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	840						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTCTGTGGCCCAGCTGGAGAG	0.463000													140	244					4.34486e-62	6.79476e-62	0.003610	1	0
ACAN	176	broad.mit.edu	37	15	89381918	89381918	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:89381918G>C	ENST00000439576.2	+	3	469	c.95G>C	c.(94-96)aGc>aCc	p.S32T	ACAN_ENST00000559004.1_Missense_Mutation_p.S32T|ACAN_ENST00000558207.1_Missense_Mutation_p.S32T|ACAN_ENST00000352105.7_Missense_Mutation_p.S32T|ACAN_ENST00000561243.1_Missense_Mutation_p.S32T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	32					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGAGTGTCAGCATCCCCCAA	0.612000													8	157					0	0	0.004482	0	0
CPT1B	1375	broad.mit.edu	37	22	51014701	51014701	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:51014701T>C	ENST00000360719.2	-	6	762	c.625A>G	c.(625-627)Aaa>Gaa	p.K209E	CPT1B_ENST00000395650.2_Missense_Mutation_p.K209E|CPT1B_ENST00000405237.3_Missense_Mutation_p.K209E|CPT1B_ENST00000434492.2_Missense_Mutation_p.K6E|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Missense_Mutation_p.K209E|CPT1B_ENST00000440709.1_Missense_Mutation_p.K209E|CPT1B_ENST00000457250.1_Missense_Mutation_p.K175E	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	209					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|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)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TGGAATTCTTTGGCCAGCAAC	0.537000											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	75					0	0	0.006230	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77324738	77324738	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:77324738G>A	ENST00000267939.5	+	11	1291	c.838G>A	c.(838-840)Gag>Aag	p.E280K	PSTPIP1_ENST00000559295.1_Missense_Mutation_p.E281K|PSTPIP1_ENST00000558012.1_Intron|PSTPIP1_ENST00000379595.3_Intron|PSTPIP1_ENST00000557995.1_Intron			O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	281					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GCCCCCCGGTGAGGTCCGGCT	0.657000													21	32					0	0	0.010504	0	0
PAGE5	90737	broad.mit.edu	37	X	55247847	55247847	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:55247847C>T	ENST00000289619.5	+	2	337	c.92C>T	c.(91-93)tCa>tTa	p.S31L	PAGE5_ENST00000374955.3_Missense_Mutation_p.S11L|PAGE5_ENST00000374952.1_Missense_Mutation_p.S11L	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)	31										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TCCCAATCCTCAGAAAGAGGA	0.333000													3	36					0	0	0.009096	0	0
TPTE	7179	broad.mit.edu	37	21	10934045	10934045	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:10934045G>T	ENST00000298232.7	-	15	1245	c.878C>A	c.(877-879)aCt>aAt	p.T293N	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.T311N|TPTE_ENST00000342420.5_Missense_Mutation_p.T273N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	311	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTACTGTAGAGTGGGGACATT	0.299000													56	405					1.22119e-34	1.7795e-34	0.003610	1	0
PEAK1	79834	broad.mit.edu	37	15	77425939	77425939	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:77425939C>T	ENST00000560626.2	-	6	3960	c.3485G>A	c.(3484-3486)aGa>aAa	p.R1162K	PEAK1_ENST00000312493.4_Missense_Mutation_p.R1162K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1162					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGTATTGGCTCTTATGATCAT	0.493000													32	162					0	0	0.008361	0	0
LRRC16B	90668	broad.mit.edu	37	14	24534852	24534852	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:24534852G>C	ENST00000342740.5	+	34	3572	c.3418G>C	c.(3418-3420)Ggg>Cgg	p.G1140R	LRRC16B_ENST00000334420.7_Intron	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1140										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GTCAGAGCCAGGGGAGGGGGG	0.607000													93	68					0	0	0.003610	0	0
MAEL	84944	broad.mit.edu	37	1	166959053	166959053	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:166959053C>T	ENST00000367872.4	+	2	456	c.212C>T	c.(211-213)cCc>cTc	p.P71L	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	71					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GACCCTGGGCCCTCAGAGAAG	0.507000													37	34					0	0	0.005524	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379880	379880	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:379880C>A	ENST00000329962.6	+	16	2503	c.2503C>A	c.(2503-2505)Cgg>Agg	p.R835R		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	835						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAACCAGGCACGGTGGGTGGC	0.642000													12	37					7.93312e-07	8.60135e-07	0.002450	1	0
MMP2	4313	broad.mit.edu	37	16	55516994	55516994	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:55516994C>T	ENST00000219070.4	+	2	836	c.327C>T	c.(325-327)aaC>aaT	p.N109N	MMP2_ENST00000543485.1_Silent_p.N33N|MMP2_ENST00000570308.1_Silent_p.N33N|MMP2_ENST00000437642.2_Silent_p.N59N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	109					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	ATGTGGCCAACTACAACTTCT	0.582000													25	121					0	0	0.004656	0	0
VWA3A	146177	broad.mit.edu	37	16	22163858	22163858	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:22163858T>A	ENST00000389397.4	+	32	3476	c.614T>A	c.(613-615)cTg>cAg	p.L205Q	VWA3A_ENST00000563755.1_Missense_Mutation_p.L205Q|VWA3A_ENST00000389398.5_Missense_Mutation_p.L1103Q			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1103						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTGAGAAAGCTGGCTTCCTTC	0.562000													7	26					0	0	0.004482	0	0
NEURL1	9148	broad.mit.edu	37	10	105330648	105330648	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:105330648C>T	ENST00000369780.4	+	2	514	c.105C>T	c.(103-105)ttC>ttT	p.F35F	NEURL_ENST00000369777.2_Silent_p.F18F	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		35					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GGGGCCCCTTCCCCGTCACTT	0.652000													19	403					0	0	0.007413	0	0
COL4A2	1284	broad.mit.edu	37	13	111077165	111077165	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:111077165G>A	ENST00000360467.5	+	5	571	c.265G>A	c.(265-267)Gac>Aac	p.D89N		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	89					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			ACGTAAAGGAGACAAGGGTGA	0.622000													48	187					0	0	0.003610	0	0
MYH4	4622	broad.mit.edu	37	17	10351986	10351986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:10351986C>A	ENST00000255381.2	-	32	4590	c.4480G>T	c.(4480-4482)Gaa>Taa	p.E1494*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1494					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						TCCAGGGATTCCTCGTAGGCA	0.438000													66	45					1.34159e-35	1.9635e-35	0.003610	1	0
OR5L2	26338	broad.mit.edu	37	11	55595399	55595399	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55595399C>A	ENST00000378397.1	+	1	705	c.705C>A	c.(703-705)caC>caA	p.H235Q		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AGAGCAGGCACAAAGCTTTCT	0.493000										HNSCC(27;0.073)			68	99					2.19297e-23	2.93565e-23	0.003610	1	0
KIAA1210	57481	broad.mit.edu	37	X	118250488	118250488	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:118250488G>A	ENST00000402510.2	-	4	620	c.621C>T	c.(619-621)ccC>ccT	p.P207P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	207										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTCCCGAACGGGCTGCAGAG	0.493000													19	21					0	0	0.002299	0	0
SHCBP1	79801	broad.mit.edu	37	16	46633756	46633756	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:46633756T>A	ENST00000303383.3	-	9	1598	c.1332A>T	c.(1330-1332)gtA>gtT	p.V444V		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	444										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AGATTCCCTCTACAGCATCAT	0.358000													28	33					0	0	0.010818	0	0
ARSJ	79642	broad.mit.edu	37	4	114899972	114899972	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:114899972C>T	ENST00000315366.7	-	1	885	c.19G>A	c.(19-21)Gcg>Acg	p.A7T	ARSJ_ENST00000541197.1_Missense_Mutation_p.A7T|ARSJ_ENST00000503013.2_5'UTR	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	7						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GGATGCCCCGCACAGCCCCTG	0.662000													56	146					0	0	0.003610	0	0
EPYC	1833	broad.mit.edu	37	12	91371958	91371958	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:91371958C>T	ENST00000261172.3	-	3	339	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	83	Poly-Glu.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.E83K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TCCTCCTCTTCCTCTTCCTGG	0.507000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	117					0	0	0.004007	0	0
FNBP1L	54874	broad.mit.edu	37	1	94000394	94000394	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:94000394G>T	ENST00000260506.8	+	9	1070	c.919G>T	c.(919-921)Ggg>Tgg	p.G307W	FNBP1L_ENST00000370256.4_Missense_Mutation_p.G307W|FNBP1L_ENST00000370253.2_Missense_Mutation_p.G307W|FNBP1L_ENST00000271234.7_Missense_Mutation_p.G307W|FNBP1L_ENST00000604705.1_Missense_Mutation_p.G307W	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	307	Induction of membrane tubulation (By similarity).|Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		ACAGGAGAGTGGGAAGATGGA	0.403000													3	4					0.004672	0.00477667	0.004672	1	0
TNN	63923	broad.mit.edu	37	1	175046886	175046886	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:175046886G>T	ENST00000239462.4	+	2	445	c.332G>T	c.(331-333)cGg>cTg	p.R111L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	111					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.R111L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCCTGGCCCGGGTGAAGAAG	0.582000													25	55					2.12542e-12	2.48999e-12	0.006320	1	0
FJX1	24147	broad.mit.edu	37	11	35640940	35640940	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:35640940G>T	ENST00000317811.4	+	1	1206	c.756G>T	c.(754-756)gtG>gtT	p.V252V		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	252						extracellular space				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TCACGGACGTGGTGGTGCCCG	0.746000													10	19					1.33987e-11	1.55338e-11	0.008291	1	0
NTM	50863	broad.mit.edu	37	11	132204977	132204977	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:132204977G>C	ENST00000374786.1	+	7	1451	c.972G>C	c.(970-972)tcG>tcC	p.S324S	NTM_ENST00000374791.3_Silent_p.S324S|NTM_ENST00000425719.2_Silent_p.S335S|NTM_ENST00000427481.2_Silent_p.S326S|NTM_ENST00000539799.1_Silent_p.S335S|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	324					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ACGGCACGTCGAGGAGGGCAG	0.607000													36	162					0	0	0.006999	0	0
PTCRA	171558	broad.mit.edu	37	6	42890948	42890948	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:42890948C>A	ENST00000304672.1	+	2	323	c.242C>A	c.(241-243)gCa>gAa	p.A81E	PTCRA_ENST00000441198.1_Missense_Mutation_p.A56E|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	81						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CCTTCCCCAGCAACGGATGGC	0.622000													76	139					1.24833e-42	1.8847e-42	0.003610	1	0
SNORD114-1	767577	broad.mit.edu	37	14	101416225	101416225	+	RNA	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:101416225G>A	ENST00000362705.1	+	0	56					NR_003193.1																						ATACAGGTCTGGAAGTCTGAG	0.383000													27	16					0	0	0.007291	0	0
PKHD1	5314	broad.mit.edu	37	6	51612726	51612726	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:51612726C>G	ENST00000371117.3	-	58	9963	c.9688G>C	c.(9688-9690)Gat>Cat	p.D3230H	PKHD1_ENST00000340994.4_Missense_Mutation_p.D3230H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3230					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)					GGAGCTCTATCTGTTGATGTC	0.488000													7	182					0	0	0.004482	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905908	144905908	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:144905908G>A	ENST00000370490.1	+	1	6220	c.1965G>A	c.(1963-1965)agG>agA	p.R655R	SLITRK2_ENST00000447897.2_Silent_p.R655R|SLITRK2_ENST00000428560.2_Silent_p.R655R|SLITRK2_ENST00000413937.2_Silent_p.R655R|SLITRK2_ENST00000434188.2_Silent_p.R655R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	655						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCGTTCCCAGGAATACCAACA	0.438000													17	139					0	0	0.006122	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176070154	176070154	+	Silent	SNP	G	G	T	rs143370383	by1000genomes	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:176070154G>T	ENST00000318682.6	+	4	671	c.87G>T	c.(85-87)acG>acT	p.T29T	EIF4E1B_ENST00000504597.1_Silent_p.T29T	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	29					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAGAGGACGCCCACAGGAG	0.592000													28	56					7.41945e-09	8.24019e-09	0.005443	1	0
PEX16	9409	broad.mit.edu	37	11	45937052	45937052	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:45937052G>A	ENST00000532681.1	-	5	1005	c.142C>T	c.(142-144)Cca>Tca	p.P48S	PEX16_ENST00000378750.5_Missense_Mutation_p.P143S|PEX16_ENST00000241041.3_Missense_Mutation_p.P143S|PEX16_ENST00000532554.1_5'UTR			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	143					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CTGTCCAGTGGAACGATAGGG	0.602000													44	72					0	0	0.013114	0	0
PEG3	5178	broad.mit.edu	37	19	57325561	57325561	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:57325561C>T	ENST00000326441.9	-	10	4612	c.4249G>A	c.(4249-4251)Gag>Aag	p.E1417K	PEG3_ENST00000423103.2_Missense_Mutation_p.E1417K|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1291K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1293K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1417	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				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)		CCGTTTGGCTCAGCAGCCTCC	0.597000													35	168					0	0	0.003271	0	0
IGSF10	285313	broad.mit.edu	37	3	151163029	151163029	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:151163029G>A	ENST00000282466.3	-	4	4739	c.4740C>T	c.(4738-4740)taC>taT	p.Y1580Y		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	1580					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)			CAATTTCTGAGTATGGTTTGT	0.433000													10	214					0	0	0.006214	0	0
ADRA2A	150	broad.mit.edu	37	10	112838931	112838931	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:112838931G>T	ENST00000280155.2	+	1	2142	c.1177G>T	c.(1177-1179)Gtg>Ttg	p.V393L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	378					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CGTGCTGGCCGTGGTCATCGG	0.677000													27	92					7.38237e-10	8.35614e-10	0.006320	1	0
FOXN4	121643	broad.mit.edu	37	12	109723185	109723185	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:109723185G>C	ENST00000299162.5	-	8	929	c.825C>G	c.(823-825)atC>atG	p.I275M	FOXN4_ENST00000355216.1_Missense_Mutation_p.I95M	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	275					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|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			large_intestine(5)|lung(9)|ovary(2)	16						CCATCTTGTCGATGCGGGCCA	0.612000													10	37					0	0	0.006214	0	0
ALPK1	80216	broad.mit.edu	37	4	113356397	113356397	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:113356397A>T	ENST00000458497.1	+	12	3407	c.3128A>T	c.(3127-3129)aAa>aTa	p.K1043I	ALPK1_ENST00000177648.9_Missense_Mutation_p.K1043I|ALPK1_ENST00000504176.2_Missense_Mutation_p.K965I	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1043	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GTGAAGAAAAAAGGCAGACAA	0.358000													72	225					0	0	0.003610	0	0
RNASEL	6041	broad.mit.edu	37	1	182545507	182545507	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:182545507C>T	ENST00000367559.3	-	6	2176	c.1923G>A	c.(1921-1923)atG>atA	p.M641I	RNASEL_ENST00000444138.1_Missense_Mutation_p.M641I	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	641	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCATTTTTTTCATAACACATT	0.299000													11	37					0	0	0.008291	0	0
GAP43	2596	broad.mit.edu	37	3	115395428	115395428	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:115395428G>C	ENST00000393780.3	+	3	1175	c.707G>C	c.(706-708)gGg>gCg	p.G236A	GAP43_ENST00000305124.6_Missense_Mutation_p.G200A	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	200					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ACGGAGACTGGGGAGAGCAGC	0.612000													6	28					0	0	0.003080	0	0
TMEM98	26022	broad.mit.edu	37	17	31263396	31263396	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:31263396C>G	ENST00000579849.1	+	6	775	c.344C>G	c.(343-345)tCt>tGt	p.S115C	TMEM98_ENST00000578289.1_Missense_Mutation_p.S115C|TMEM98_ENST00000394642.3_Missense_Mutation_p.S115C	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	115						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			ACAATGGGCTCTGGGGCCAAG	0.572000													6	182					0	0	0.003080	0	0
LAMA2	3908	broad.mit.edu	37	6	129498962	129498962	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:129498962G>A	ENST00000421865.2	+	10	1467	c.1418G>A	c.(1417-1419)gGg>gAg	p.G473E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	473	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACTGCAGTGGGTTAGGGAGC	0.483000													43	58					0	0	0.010771	0	0
KCNIP2	30819	broad.mit.edu	37	10	103588945	103588945	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:103588945C>T	ENST00000358038.3	-	3	532	c.181G>A	c.(181-183)Gat>Aat	p.D61N	KCNIP2_ENST00000370046.1_Missense_Mutation_p.D29N|KCNIP2_ENST00000353068.3_Missense_Mutation_p.D29N|KCNIP2_ENST00000461105.1_Missense_Mutation_p.D94N|KCNIP2_ENST00000356640.2_Missense_Mutation_p.D79N|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000348850.5_Missense_Mutation_p.D34N|KCNIP2_ENST00000343195.4_Missense_Mutation_p.D29N	NM_173192.2|NM_173193.2|NM_173195.2	NP_775284.1|NP_775285.1|NP_775287.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	79					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		TCAAATTCATCGTCCACGCTG	0.632000													4	34					0	0	0.009096	0	0
ZNF319	57567	broad.mit.edu	37	16	58030659	58030659	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:58030659T>G	ENST00000299237.2	-	2	2133	c.1511A>C	c.(1510-1512)cAc>cCc	p.H504P		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TACCCGCCGGTGCCGCTGCAG	0.637000													15	13					0	0	0.003163	0	0
DHRS3	9249	broad.mit.edu	37	1	12638760	12638760	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:12638760C>G	ENST00000376223.2	-	4	1067	c.684G>C	c.(682-684)caG>caC	p.Q228H		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	228					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CTCTCATGCCCTGGAACATCT	0.612000													5	69					0	0	0.001168	0	0
FOSL2	2355	broad.mit.edu	37	2	28635205	28635205	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:28635205G>C	ENST00000264716.4	+	4	1734	c.871G>C	c.(871-873)Gag>Cag	p.E291Q	FOSL2_ENST00000379619.1_Missense_Mutation_p.E283Q|FOSL2_ENST00000545753.1_Missense_Mutation_p.E252Q	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	291					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCTGGAGCAGGAGTCACCCGC	0.612000													45	76					0	0	0.009718	0	0
TRIP10	9322	broad.mit.edu	37	19	6750366	6750366	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:6750366G>A	ENST00000600428.1	+	12	1613	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	TRIP10_ENST00000313285.8_Missense_Mutation_p.A431T|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Missense_Mutation_p.A431T|TRIP10_ENST00000313244.9_Missense_Mutation_p.A487T			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	487	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GAGCCGGCACGCCCGGCCTCC	0.657000													7	105					0	0	0.001984	0	0
VWA3B	200403	broad.mit.edu	37	2	98709643	98709643	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:98709643G>T	ENST00000477737.1	+	2	292	c.88G>T	c.(88-90)Gag>Tag	p.E30*	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E30*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	30										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGACTTGGCTGAGCAGAGTCT	0.453000													20	115					4.63292e-17	5.79982e-17	0.008871	1	0
MYH1	4619	broad.mit.edu	37	17	10397893	10397893	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:10397893G>C	ENST00000226207.5	-	38	5658	c.5564C>G	c.(5563-5565)aCt>aGt	p.T1855S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1855						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TACTTGGTAAGTGAGTTCCTT	0.378000													68	46					0	0	0.003610	0	0
ZNF521	25925	broad.mit.edu	37	18	22804919	22804919	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:22804919C>G	ENST00000361524.3	-	4	3111	c.2963G>C	c.(2962-2964)gGa>gCa	p.G988A	ZNF521_ENST00000584787.1_Missense_Mutation_p.G768A|ZNF521_ENST00000538137.2_Missense_Mutation_p.G988A	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	988					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCGGCAGTTTCCAGTATCAAG	0.473000			T	PAX5	ALL								59	113					0	0	0.003610	0	0
ESM1	11082	broad.mit.edu	37	5	54281066	54281066	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:54281066C>T	ENST00000381405.4	-	1	425	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Missense_Mutation_p.E94K	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	94	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			CCAAACTCTTCACCAAAAGGA	0.562000													87	147					0	0	0.003610	0	0
OPCML	4978	broad.mit.edu	37	11	132399049	132399049	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:132399049G>A	ENST00000331898.7	-	3	1010	c.432C>T	c.(430-432)gaC>gaT	p.D144D	OPCML_ENST00000541867.1_Silent_p.D144D|OPCML_ENST00000374778.4_Silent_p.D103D|OPCML_ENST00000524381.1_Silent_p.D137D|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	144	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.D144E(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCACAGTGATGTCTGAGGAGA	0.453000													17	47					0	0	0.004007	0	0
PRND	23627	broad.mit.edu	37	20	4705248	4705248	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:4705248C>G	ENST00000305817.2	+	2	122	c.51C>G	c.(49-51)ctC>ctG	p.L17L		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	17					protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCATGCTGCTCTTCAGCCACC	0.632000													8	128					0	0	0.008291	0	0
OR4D10	390197	broad.mit.edu	37	11	59245074	59245074	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:59245074C>A	ENST00000530162.1	+	1	229	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTTCACACGCCCATGTATTT	0.433000													116	247					4.94232e-47	7.50694e-47	0.003610	1	0
RUFY3	22902	broad.mit.edu	37	4	71654656	71654656	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:71654656G>C	ENST00000226328.4	+	11	1768	c.1205G>C	c.(1204-1206)aGa>aCa	p.R402T	RUFY3_ENST00000536664.1_Missense_Mutation_p.R386T|RUFY3_ENST00000502653.1_Missense_Mutation_p.R349T|RUFY3_ENST00000417478.2_Missense_Mutation_p.R462T|RUFY3_ENST00000381006.3_Missense_Mutation_p.R402T	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	402					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GATGACCTCAGAGCTCTCAAG	0.507000													6	110					0	0	0.001168	0	0
MSRA	4482	broad.mit.edu	37	8	10177447	10177447	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:10177447C>T	ENST00000528246.1	+	6	916	c.293C>T	c.(292-294)aCc>aTc	p.T98I	MSRA_ENST00000382490.5_Missense_Mutation_p.T121I|MSRA_ENST00000317173.4_Missense_Mutation_p.T164I|MSRA_ENST00000518255.1_Missense_Mutation_p.T164I|MSRA_ENST00000441698.2_Missense_Mutation_p.T124I	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	164					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	ATCTACCCGACCTCTGCCAAG	0.577000													5	19					0	0	0.001168	0	0
ITPKB	3707	broad.mit.edu	37	1	226923860	226923860	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:226923860C>T	ENST00000429204.1	-	2	1627	c.1300G>A	c.(1300-1302)Ggg>Agg	p.G434R	ITPKB_ENST00000272117.3_Missense_Mutation_p.G434R|ITPKB_ENST00000366784.1_Missense_Mutation_p.G434R	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	434							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAACGCCCCCCGCCCACGGGG	0.706000													17	40					0	0	0.004007	0	0
DBT	1629	broad.mit.edu	37	1	100672042	100672042	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:100672042C>A	ENST00000370132.3	-	9	1181	c.1168G>T	c.(1168-1170)Gat>Tat	p.D390Y		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	390					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		CCTGTAAGATCAGTGGTGCTG	0.393000													87	225					1.31969e-37	1.93992e-37	0.003610	1	0
BIRC6	57448	broad.mit.edu	37	2	32694557	32694557	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:32694557A>G	ENST00000421745.2	+	30	6356	c.6222A>G	c.(6220-6222)atA>atG	p.I2074M		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2074					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCCCAAAGATACGGTTACATA	0.443000													76	209					0	0	0.003610	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407601	55407601	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:55407601G>T	ENST00000341048.4	-	10	1125	c.974C>A	c.(973-975)cCt>cAt	p.P325H	ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.P282H|ANKRD55_ENST00000434982.2_Missense_Mutation_p.P37H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	324										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGGTCGAGTAGGCTCTGTTCT	0.488000													48	98					7.05377e-20	9.07946e-20	0.003610	1	0
MUC17	140453	broad.mit.edu	37	7	100681040	100681040	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:100681040G>T	ENST00000306151.4	+	3	6407	c.6343G>T	c.(6343-6345)Gcc>Tcc	p.A2115S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2115	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACGCCGGTGGCCAGTCCTGA	0.498000													326	170					3.77821e-141	6.05962e-141	0.003610	1	0
KCTD15	79047	broad.mit.edu	37	19	34291390	34291390	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:34291390T>C	ENST00000284006.5	+	3	283	c.31T>C	c.(31-33)Tcc>Ccc	p.S11P	KCTD15_ENST00000588881.1_Missense_Mutation_p.S11P|KCTD15_ENST00000430256.2_Missense_Mutation_p.S11P|KCTD15_ENST00000589786.1_Missense_Mutation_p.S11P	NM_001129994.1|NM_001129995.1|NM_024076.2	NP_001123466.1|NP_001123467.1|NP_076981.2	Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	11						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					GCCGAGCGGGTCCTCGCTTCA	0.637000													9	52					0	0	0.008291	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102493027	102493027	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:102493027C>T	ENST00000360184.4	+	44	8918	c.8754C>T	c.(8752-8754)caC>caT	p.H2918H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2918	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			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						TCCTAGACCACGTGCTGAGGA	0.478000													36	29					0	0	0.002836	0	0
IGF2R	3482	broad.mit.edu	37	6	160500618	160500618	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:160500618C>T	ENST00000356956.1	+	38	5633	c.5485C>T	c.(5485-5487)Cgc>Tgc	p.R1829C		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1829					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CCAGGTGACTCGCGACTCGCG	0.582000													3	27					0	0	0.009096	0	0
CEP192	55125	broad.mit.edu	37	18	13030463	13030463	+	Splice_Site	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:13030463G>C	ENST00000506447.1	+	11	1470		c.e11-1		CEP192_ENST00000430049.2_Splice_Site|CEP192_ENST00000325971.8_Splice_Site	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa											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						TTATTTTTTAGAAACAGATCT	0.308000													6	13					0	0	0.001168	0	0
NBPF1	55672	broad.mit.edu	37	1	16907242	16907242	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:16907242G>A	ENST00000430580.2	-	16	2476	c.1589C>T	c.(1588-1590)cCa>cTa	p.P530L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	530	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGGCTACCTGGGAGAATGTT	0.418000													39	1977					0	0	0.003163	0	0
NLRP7	199713	broad.mit.edu	37	19	55451427	55451427	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:55451427C>A	ENST00000588756.1	-	6	1246	c.760G>T	c.(760-762)Ggc>Tgc	p.G254C	NLRP7_ENST00000448121.2_Missense_Mutation_p.G254C|NLRP7_ENST00000590030.1_Missense_Mutation_p.G254C|NLRP7_ENST00000592784.1_Missense_Mutation_p.G254C|NLRP7_ENST00000340844.2_Missense_Mutation_p.G254C|NLRP7_ENST00000446217.1_Missense_Mutation_p.G282C|NLRP7_ENST00000328092.5_Missense_Mutation_p.G254C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	254	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCATCAAGGCCATCGACCACG	0.562000													106	162					2.14364e-31	3.04846e-31	0.003610	1	0
IL9	3578	broad.mit.edu	37	5	135231470	135231470	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:135231470G>A	ENST00000274520.1	-	1	46	c.36C>T	c.(34-36)ctC>ctT	p.L12L		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	12					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGAGCACAGGAGCAGGGCAG	0.572000													18	71					0	0	0.010504	0	0
HERC2	8924	broad.mit.edu	37	15	28473435	28473435	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:28473435C>A	ENST00000261609.7	-	35	5501	c.5393G>T	c.(5392-5394)gGc>gTc	p.G1798V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1798					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTTGTTTGCGCCGTGCTGCAG	0.617000													18	44					2.94398e-08	3.24452e-08	0.007413	1	0
DNAH11	8701	broad.mit.edu	37	7	21723509	21723509	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:21723509C>G	ENST00000328843.6	+	33	5620	c.5589C>G	c.(5587-5589)ttC>ttG	p.F1863L	DNAH11_ENST00000409508.3_Missense_Mutation_p.F1856L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1863	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCCAGTACTTCTATGAATACT	0.428000									Kartagener syndrome				36	315					0	0	0.002836	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869911	151869911	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:151869911T>C	ENST00000329342.5	+	3	826	c.601T>C	c.(601-603)Ttc>Ctc	p.F201L		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	201	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)					CAAGACAGGCTTCCTGATAAT	0.557000													112	161					0	0	0.003610	0	0
DCHS2	54798	broad.mit.edu	37	4	155180804	155180804	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:155180804C>A	ENST00000357232.3	-	20	5316	c.5317G>T	c.(5317-5319)Gta>Tta	p.V1773L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1773	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAGACTGCTACTTTGCAATAG	0.398000													45	65					3.61183e-13	4.26621e-13	0.003610	1	0
IGFLR1	79713	broad.mit.edu	37	19	36230869	36230869	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:36230869G>A	ENST00000592537.1	-	4	563	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000246532.1_Nonsense_Mutation_p.Q155*|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	155						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						CAGGCCTGCTGAGGGACAGGC	0.622000													25	163					0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9049824	9049824	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:9049824G>T	ENST00000397910.4	-	5	32010	c.31807C>A	c.(31807-31809)Cct>Act	p.P10603T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10605	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						GTCTCTGCAGGATGGATAACC	0.478000													88	44					6.31949e-53	9.71633e-53	0.003610	1	0
TECPR1	25851	broad.mit.edu	37	7	97862266	97862266	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:97862266T>A	ENST00000447648.2	-	12	1990	c.1691A>T	c.(1690-1692)cAc>cTc	p.H564L	TECPR1_ENST00000379795.3_Missense_Mutation_p.H565L|TECPR1_ENST00000542604.1_Missense_Mutation_p.H494L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	564						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGACAGCATGTGTACCGAGGA	0.662000													5	91					0	0	0.000602	0	0
MYO16	23026	broad.mit.edu	37	13	109779940	109779940	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:109779940C>A	ENST00000457511.2	+	19	2834	c.2563C>A	c.(2563-2565)Cgc>Agc	p.R855S	MYO16_ENST00000356711.2_Intron|MYO16_ENST00000357550.2_Intron			Q9Y6X6	MYO16_HUMAN	myosin XVI	0	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCCGGGCTCGCGCATGCTCTG	0.587000													13	12					5.50884e-06	5.84659e-06	0.001368	1	0
DCDC1	341019	broad.mit.edu	37	11	30926552	30926552	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:30926552C>A	ENST00000597505.1	-	29	4263	c.4264G>T	c.(4264-4266)Ggg>Tgg	p.G1422W	DCDC1_ENST00000339794.5_Missense_Mutation_p.G501W|DCDC1_ENST00000406071.2_Missense_Mutation_p.G157W			P59894	DCDC1_HUMAN	doublecortin domain containing 1	184					intracellular signal transduction			p.G501W(1)|p.G109W(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTACGATACCCATCCCCATTT	0.458000													21	86					9.95505e-16	1.22787e-15	0.002299	1	0
ZNF585B	92285	broad.mit.edu	37	19	37676971	37676971	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:37676971C>G	ENST00000532828.2	-	5	1719	c.1468G>C	c.(1468-1470)Gga>Cga	p.G490R	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G78R|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G435R	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATTTCTCTCCTGTATGAGTT	0.408000													162	130					0	0	0.003610	0	0
ACSM2A	123876	broad.mit.edu	37	16	20487072	20487072	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:20487072G>A	ENST00000573854.1	+	8	1189	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	ACSM2A_ENST00000219054.6_Missense_Mutation_p.E359K|ACSM2A_ENST00000417235.2_Missense_Mutation_p.E280K|ACSM2A_ENST00000536134.1_Missense_Mutation_p.E131K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.E359K|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.E359K	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	359					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGACATCCGAGAATCCTATGG	0.488000													51	317					0	0	0.003610	0	0
PRF1	5551	broad.mit.edu	37	10	72360567	72360567	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:72360567C>T	ENST00000441259.1	-	2	252	c.92G>A	c.(91-93)tGc>tAc	p.C31Y	PRF1_ENST00000373209.2_Missense_Mutation_p.C31Y	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	31	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GCTGCGCTTGCACTCTGAGCG	0.682000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				24	20					0	0	0.004656	0	0
ACAN	176	broad.mit.edu	37	15	89386626	89386626	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:89386626C>T	ENST00000439576.2	+	6	1172	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ACAN_ENST00000559004.1_Silent_p.F266F|ACAN_ENST00000558207.1_Silent_p.F266F|ACAN_ENST00000352105.7_Silent_p.F266F|ACAN_ENST00000561243.1_Silent_p.F266F	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	266					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTTCACCTTCCAGGAAGCAG	0.632000													18	29					0	0	0.010504	0	0
SLC25A38	54977	broad.mit.edu	37	3	39432974	39432974	+	Missense_Mutation	SNP	A	A	C	rs150252435		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:39432974A>C	ENST00000273158.4	+	4	696	c.319A>C	c.(319-321)Act>Cct	p.T107P		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	107					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTACTTTGGCACTCTCTACTC	0.502000													171	427					0	0	0.003610	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323253	61323253	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:61323253T>G	ENST00000283752.5	-	8	954	c.811A>C	c.(811-813)Agt>Cgt	p.S271R	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.S219R	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	271					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTCTGCAAACTTGTCCATTCC	0.388000													15	70					0	0	0.003163	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683179	140683179	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:140683179T>C	ENST00000239451.4	-	1	433	c.254A>G	c.(253-255)tAc>tGc	p.Y85C		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	85					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GCAGAACCCGTAGCACATGAA	0.592000													11	114					0	0	0.010729	0	0
C1orf172	126695	broad.mit.edu	37	1	27278134	27278134	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:27278134C>T	ENST00000320567.5	-	2	826	c.738G>A	c.(736-738)aaG>aaA	p.K246K		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	246										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCTGTCAGCTTCTTGAAGA	0.522000													8	54					0	0	0.003080	0	0
ATP10D	57205	broad.mit.edu	37	4	47593390	47593390	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:47593390G>A	ENST00000273859.3	+	23	4542	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1425					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E1425>?(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAAAGGTAAAGAAAGCTAGAT	0.418000													32	115					0	0	0.012213	0	0
KLHL4	56062	broad.mit.edu	37	X	86919909	86919909	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:86919909G>T	ENST00000373119.4	+	10	2216	c.2071G>T	c.(2071-2073)Gat>Tat	p.D691Y	KLHL4_ENST00000373114.4_Missense_Mutation_p.D691Y	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	691						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGAGTCATATGATGCACAGAG	0.333000													4	55					2.56e-06	2.7343e-06	0.009096	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762732	92762732	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:92762732C>T	ENST00000318238.4	-	5	3769	c.2553G>A	c.(2551-2553)ttG>ttA	p.L851L	SAMD9L_ENST00000437805.1_Silent_p.L851L|SAMD9L_ENST00000411955.1_Silent_p.L851L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	851										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)			TACTGTCTGCCAATTTTGCAC	0.373000													40	98					0	0	0.006999	0	0
NIPBL	25836	broad.mit.edu	37	5	36985082	36985082	+	Silent	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:36985082T>C	ENST00000282516.8	+	10	2299	c.1800T>C	c.(1798-1800)ccT>ccC	p.P600P	NIPBL_ENST00000448238.2_Silent_p.P600P|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	600					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTGAGACACCTAAAAAAAAGT	0.358000													3	97					0	0	0.004672	0	0
TLR4	7099	broad.mit.edu	37	9	120475527	120475527	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:120475527G>C	ENST00000355622.6	+	3	1222	c.1121G>C	c.(1120-1122)aGc>aCc	p.S374T	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S334T	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	374					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GATCTACCAAGCCTTGAGTTT	0.388000													58	30					0	0	0.003610	0	0
HERC2	8924	broad.mit.edu	37	15	28493784	28493784	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:28493784G>A	ENST00000261609.7	-	21	3257	c.3149C>T	c.(3148-3150)tCa>tTa	p.S1050L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1050					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAAATCCAATGAAGCAGATCT	0.388000													11	46					0	0	0.010729	0	0
MKL2	57496	broad.mit.edu	37	16	14280867	14280867	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:14280867G>T	ENST00000341243.5	+	1	96	c.96G>T	c.(94-96)ggG>ggT	p.G32G	MKL2_ENST00000572567.1_Silent_p.G32G|MKL2_ENST00000571589.1_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	32					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCTTGAGGGGAGCAACCAGA	0.473000													12	27					1.08611e-07	1.19175e-07	0.010729	1	0
ZDHHC9	51114	broad.mit.edu	37	X	128945380	128945380	+	Splice_Site	SNP	A	A	C	rs35699937		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:128945380A>C	ENST00000357166.6	-	9	1273		c.e9+1		ZDHHC9_ENST00000371064.3_Splice_Site	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9							endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TGCCCTGAGCACCTGGGGGGC	0.527000													10	78					0	0	0.010729	0	0
NBEA	26960	broad.mit.edu	37	13	35683448	35683448	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:35683448A>G	ENST00000540320.1	+	12	2236	c.1702A>G	c.(1702-1704)Aga>Gga	p.R568G	NBEA_ENST00000310336.4_Missense_Mutation_p.R568G|NBEA_ENST00000379939.2_Missense_Mutation_p.R568G|NBEA_ENST00000400445.3_Missense_Mutation_p.R568G			Q8NFP9	NBEA_HUMAN	neurobeachin	568						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)		TCATATAACTAGAGCTGTCCT	0.328000													31	123					0	0	0.003271	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126342	32126342	+	Silent	SNP	C	C	A	rs147714399		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:32126342C>A	ENST00000265070.6	-	4	1188	c.873G>T	c.(871-873)gcG>gcT	p.A291A		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	291					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	p.A291A(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CCGCCACCACCGCCCACAGAA	0.498000													75	187					6.09464e-36	8.93287e-36	0.003610	1	0
PLRG1	5356	broad.mit.edu	37	4	155458507	155458507	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:155458507C>T	ENST00000499023.2	-	14	1542	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q	PLRG1_ENST00000393905.2_Silent_p.Q472Q|PLRG1_ENST00000302078.5_Silent_p.Q463Q	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	472						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				GACTTTCAGACTGATCAAAAG	0.418000													22	56					0	0	0.012319	0	0
VGLL3	389136	broad.mit.edu	37	3	87017950	87017950	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:87017950G>C	ENST00000398399.2	-	3	1090	c.727C>G	c.(727-729)Cat>Gat	p.H243D	VGLL3_ENST00000383698.3_Missense_Mutation_p.H243D	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	243	His-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		tggtgatgatggtggcggtgg	0.597000													27	49					0	0	0.003954	0	0
DZIP3	9666	broad.mit.edu	37	3	108353773	108353773	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:108353773G>T	ENST00000361582.3	+	10	1102	c.872G>T	c.(871-873)tGc>tTc	p.C291F	DZIP3_ENST00000463306.1_Missense_Mutation_p.C291F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	291					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CATAAAATTTGCTGGAAAAAG	0.313000													34	90					5.71845e-15	6.93397e-15	0.005524	1	0
INCENP	3619	broad.mit.edu	37	11	61897893	61897893	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:61897893G>A	ENST00000394818.3	+	4	1096	c.894G>A	c.(892-894)acG>acA	p.T298T	INCENP_ENST00000278849.4_Silent_p.T298T	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	298					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GCTCTCGCACGGACTCTCAAT	0.632000													119	123					0	0	0.003610	0	0
KCNN2	3781	broad.mit.edu	37	5	113740334	113740334	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:113740334C>A	ENST00000512097.3	+	4	1800	c.782C>A	c.(781-783)cCa>cAa	p.P261Q	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.P261Q			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	261						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TTATCTATACCAATGTTCTTA	0.428000													38	155					4.14481e-20	5.35571e-20	0.006230	1	0
OBSL1	23363	broad.mit.edu	37	2	220423027	220423027	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:220423027C>A	ENST00000404537.1	-	10	3437	c.3381G>T	c.(3379-3381)ctG>ctT	p.L1127L	OBSL1_ENST00000603926.1_Silent_p.L1127L|OBSL1_ENST00000265317.5_Silent_p.L118L|OBSL1_ENST00000373876.1_Silent_p.L1127L|OBSL1_ENST00000265318.4_Intron	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1127	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CACCCAGCTGCAGGGCATCTG	0.697000													14	30					1.3612e-06	1.4711e-06	0.003163	1	0
BNC2	54796	broad.mit.edu	37	9	16419222	16419222	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:16419222G>T	ENST00000380672.4	-	7	3122	c.3065C>A	c.(3064-3066)tCt>tAt	p.S1022Y	BNC2_ENST00000380667.2_Missense_Mutation_p.S955Y|BNC2_ENST00000545497.1_Missense_Mutation_p.S927Y	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GAACATAAGAGATCCTGAAAC	0.552000													69	39					1.49552e-23	2.00736e-23	0.003610	1	0
POLR2E	5434	broad.mit.edu	37	19	1094056	1094056	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:1094056G>C	ENST00000215587.7	-	2	362	c.79C>G	c.(79-81)Ctg>Gtg	p.L27V	POLR2E_ENST00000586746.1_Missense_Mutation_p.L27V			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	27					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTCACCAGATAGCCACGG	0.637000													11	45					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9073419	9073419	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:9073419G>A	ENST00000397910.4	-	3	14230	c.14027C>T	c.(14026-14028)aCc>aTc	p.T4676I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4678	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						GGTCATGTGGGTAGATATTGT	0.468000													107	74					0	0	0.003610	0	0
AFF2	2334	broad.mit.edu	37	X	148035225	148035225	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:148035225A>T	ENST00000370460.2	+	10	1992	c.1513A>T	c.(1513-1515)Act>Tct	p.T505S	AFF2_ENST00000286437.5_Missense_Mutation_p.T146S|AFF2_ENST00000370457.5_Missense_Mutation_p.T472S|AFF2_ENST00000342251.3_Missense_Mutation_p.T472S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	505					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGTAGCACCACTGACAGCGA	0.602000													9	207					0	0	0.004482	0	0
EPS8L2	64787	broad.mit.edu	37	11	720113	720113	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:720113G>T	ENST00000533256.1	+	6	592	c.217G>T	c.(217-219)Gac>Tac	p.D73Y	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.D73Y|EPS8L2_ENST00000530636.1_Missense_Mutation_p.D73Y|EPS8L2_ENST00000318562.8_Missense_Mutation_p.D73Y			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	73	PID.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCTGTGGACGACGCCATCCG	0.612000													18	44					6.94344e-10	7.86819e-10	0.006122	1	0
PCBD2	84105	broad.mit.edu	37	5	134246156	134246156	+	Splice_Site	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:134246156G>T	ENST00000512783.1	+	2	236	c.216_splice	c.e2+1	p.Q72_splice	PCBD2_ENST00000510013.1_3'UTR|PCBD2_ENST00000254908.6_Splice_Site_p.Q72_splice			Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2	72					positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process		4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding			kidney(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTTTAATCAGGTAATTGTTA	0.403000													23	50					4.47668e-21	5.83712e-21	0.003954	1	0
TMIGD1	388364	broad.mit.edu	37	17	28651841	28651841	+	Silent	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:28651841A>T	ENST00000328886.4	-	4	705	c.633T>A	c.(631-633)atT>atA	p.I211I	TMIGD1_ENST00000538566.2_Silent_p.I211I	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	211						integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TACCTTTAACAATCAGGTGAA	0.403000													32	92					0	0	0.009535	0	0
MUC6	4588	broad.mit.edu	37	11	1017204	1017204	+	Missense_Mutation	SNP	G	G	C	rs71472140		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:1017204G>C	ENST00000421673.2	-	31	5647	c.5597C>G	c.(5596-5598)tCt>tGt	p.S1866C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1866	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGGAGGCAGAAGTGGCCAT	0.572000													18	741					0	0	0.001368	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279574	217279574	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:217279574C>T	ENST00000357276.4	+	3	477	c.147C>T	c.(145-147)gcC>gcT	p.A49A	SMARCAL1_ENST00000358207.5_Silent_p.A49A	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	49					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CATTCCAGGCCAAGCAAGGCC	0.512000									Schimke Immuno-Osseous Dysplasia				168	165					0	0	0.003610	0	0
OR5D18	219438	broad.mit.edu	37	11	55587802	55587802	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55587802A>T	ENST00000333976.4	+	1	717	c.697A>T	c.(697-699)Agt>Tgt	p.S233C		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCGTTCAGTCAGTGGGCGCCG	0.493000													70	78					0	0	0.003610	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90577210	90577210	+	RNA	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:90577210G>A	ENST00000551025.1	+	0	5638							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GGTTCATCCTGATGTGTTGGA	0.378000													18	116					0	0	0.010504	0	0
UTRN	7402	broad.mit.edu	37	6	145069583	145069583	+	Missense_Mutation	SNP	G	G	A	rs141157215		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:145069583G>A	ENST00000367545.3	+	54	8141	c.8141G>A	c.(8140-8142)cGg>cAg	p.R2714Q	UTRN_ENST00000367526.4_Missense_Mutation_p.R269Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2714					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAGTCCGTGCGGAATGGCTGG	0.483000													5	45					0	0	0.000602	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453294	25453294	+	RNA	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:25453294G>T	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1																						ATGCTCAATAGGATTACGCTG	0.517000													24	425					1.64293e-13	1.94747e-13	0.003330	1	0
ABCB1	5243	broad.mit.edu	37	7	87199501	87199501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:87199501C>A	ENST00000265724.3	-	6	742	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	ABCB1_ENST00000543898.1_Nonsense_Mutation_p.E109*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	109	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTCATGTCTTCCTCCAGATTC	0.318000													79	39					9.90312e-32	1.41232e-31	0.003610	1	0
TRIM51	84767	broad.mit.edu	37	11	55658693	55658693	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55658693C>A	ENST00000449290.2	+	7	1036	c.944C>A	c.(943-945)cCt>cAt	p.P315H	TRIM51_ENST00000244891.3_Missense_Mutation_p.P172H	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	315	B30.2/SPRY.					intracellular	zinc ion binding										GGATGTGACCCTCAAGATGAT	0.408000													47	144					1.81118e-26	2.48759e-26	0.003610	1	0
NUF2	83540	broad.mit.edu	37	1	163315606	163315606	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:163315606G>C	ENST00000271452.3	+	11	1225	c.946G>C	c.(946-948)Gag>Cag	p.E316Q	NUF2_ENST00000367900.3_Missense_Mutation_p.E316Q|NUF2_ENST00000524800.1_Intron	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	316	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TATCTTAAAGGAGGTTTGTAT	0.318000													13	47					0	0	0.001855	0	0
VCAM1	7412	broad.mit.edu	37	1	101200241	101200241	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:101200241A>T	ENST00000294728.2	+	8	2077	c.1976A>T	c.(1975-1977)cAg>cTg	p.Q659L	VCAM1_ENST00000370119.4_Missense_Mutation_p.Q597L|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q567L|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q460L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	659	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CGAAAGGCCCAGTTGAAGGAT	0.393000													16	57					0	0	0.007413	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996511	143996511	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:143996511C>T	ENST00000323110.2	-	3	548	c.546G>A	c.(544-546)ggG>ggA	p.G182G		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	182					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGGTCAGGCTCCCCCGGGCGT	0.647000									Familial Hyperaldosteronism type I				5	69					0	0	0.002450	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379903	379903	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:379903G>A	ENST00000329962.6	+	16	2526	c.2526G>A	c.(2524-2526)gcG>gcA	p.A842A		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	842						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTCCTGGCGGACATGGCTG	0.677000													15	43					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179648873	179648873	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:179648873T>A	ENST00000589042.1	-	16	2923	c.2699A>T	c.(2698-2700)aAg>aTg	p.K900M	TTN_ENST00000359218.5_Missense_Mutation_p.K854M|TTN_ENST00000591111.1_Missense_Mutation_p.K900M|TTN_ENST00000342175.6_Missense_Mutation_p.K854M|TTN_ENST00000460472.2_Missense_Mutation_p.K854M|TTN_ENST00000360870.5_Missense_Mutation_p.K900M|TTN_ENST00000342992.6_Missense_Mutation_p.K900M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	900							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)			CCCTACTTCCTTTTTCACCTC	0.547000													50	158					0	0	0.003610	0	0
HLF	3131	broad.mit.edu	37	17	53398080	53398080	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:53398080G>T	ENST00000226067.5	+	4	1201	c.728G>T	c.(727-729)cGc>cTc	p.R243L	HLF_ENST00000575307.1_3'UTR|HLF_ENST00000575345.1_Missense_Mutation_p.R158L|HLF_ENST00000573945.1_Missense_Mutation_p.R158L|HLF_ENST00000430986.2_Missense_Mutation_p.R158L	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	243					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						AAGCGCTCCCGCGACGCCCGG	0.547000			T	TCF3	ALL								10	65					1.58986e-06	1.71269e-06	0.008291	1	0
BPIFA1	51297	broad.mit.edu	37	20	31825632	31825632	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:31825632G>T	ENST00000354297.4	+	2	186	c.115G>T	c.(115-117)Gcc>Tcc	p.A39S	BPIFA1_ENST00000375413.4_Missense_Mutation_p.A39S|BPIFA1_ENST00000375422.2_Missense_Mutation_p.A39S	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	39					innate immune response	extracellular region	lipid binding										TGTGAATCCAGCCCTGCCCTT	0.567000													91	71					5.01286e-43	7.59111e-43	0.003610	1	0
GCKR	2646	broad.mit.edu	37	2	27726468	27726468	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:27726468G>T	ENST00000264717.2	+	9	795	c.732G>T	c.(730-732)gtG>gtT	p.V244V	GCKR_ENST00000424318.2_Silent_p.V54V	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	244	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AAGCTTTTGTGCTCAATCCTG	0.502000													34	20					1.26612e-14	1.5242e-14	0.003271	1	0
PGLS	25796	broad.mit.edu	37	19	17628119	17628119	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:17628119C>T	ENST00000252603.2	+	3	463	c.419C>T	c.(418-420)cCg>cTg	p.P140L		NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	140						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						GACTCCATCCCGGTTTTCGAC	0.612000													155	91					0	0	0.003610	0	0
CIC	23152	broad.mit.edu	37	19	42798342	42798342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:42798342G>T	ENST00000572681.2	+	19	6999	c.6931G>T	c.(6931-6933)Gag>Tag	p.E2311*	CIC_ENST00000575354.2_Nonsense_Mutation_p.E1405*|CIC_ENST00000160740.3_Nonsense_Mutation_p.E1403*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCAGCACCCGAGGACCCCAC	0.627000			"""Mis, F, S"""		oligodendroglioma								71	43					1.02016e-41	1.53329e-41	0.003610	1	0
DCDC1	341019	broad.mit.edu	37	11	30926554	30926554	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:30926554T>A	ENST00000597505.1	-	29	4261	c.4262A>T	c.(4261-4263)gAt>gTt	p.D1421V	DCDC1_ENST00000339794.5_Missense_Mutation_p.D500V|DCDC1_ENST00000406071.2_Missense_Mutation_p.D156V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	183					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)					ACGATACCCATCCCCATTTTT	0.458000													20	89					0	0	0.010504	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764291	120764291	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:120764291G>A	ENST00000273666.6	+	5	650	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	STXBP5L_ENST00000472879.1_Missense_Mutation_p.V127I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V127I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V127I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.V127I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	127					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGGTGCCTTGGTCAGTGCAAG	0.353000													12	272					0	0	0.004007	0	0
SPAG16	79582	broad.mit.edu	37	2	214794788	214794788	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:214794788G>T	ENST00000331683.5	+	12	1414	c.1319G>T	c.(1318-1320)tGg>tTg	p.W440L	SPAG16_ENST00000374309.3_Missense_Mutation_p.W346L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	440					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CGCGCAGTGTGGTCCTGCACA	0.428000													76	59					4.09166e-32	5.85189e-32	0.003610	1	0
PRKDC	5591	broad.mit.edu	37	8	48866220	48866220	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:48866220C>A	ENST00000314191.2	-	7	737	c.681G>T	c.(679-681)ttG>ttT	p.L227F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L227F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	227					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GAAGTGAGGACAACCCCTTCA	0.393000								Non-homologous end-joining					24	47					4.59853e-10	5.22868e-10	0.005443	1	0
SLC35F2	54733	broad.mit.edu	37	11	107676084	107676084	+	Splice_Site	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:107676084C>T	ENST00000525071.1	-	8	1320		c.e8+1		SLC35F2_ENST00000429869.1_Splice_Site|SLC35F2_ENST00000265836.7_Splice_Site|SLC35F2_ENST00000375682.4_Splice_Site|SLC35F2_ENST00000525815.1_Splice_Site			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2						transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		TAGAATCTTACAGCTGTATAC	0.323000													14	21					0	0	0.003163	0	0
DCHS2	54798	broad.mit.edu	37	4	155241958	155241958	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:155241958G>C	ENST00000357232.3	-	14	3227	c.3228C>G	c.(3226-3228)gtC>gtG	p.V1076V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1076	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGCATTGAAGACATACACCA	0.443000													10	142					0	0	0.006214	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460452	66460452	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:66460452C>A	ENST00000533211.1	-	25	5305	c.4974G>T	c.(4972-4974)gaG>gaT	p.E1658D	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1658D|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1658D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1658					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCTCTGGGTGCTCGTGGTCAA	0.657000													542	206					4.45376e-183	7.17749e-183	0.003610	1	0
CHL1	10752	broad.mit.edu	37	3	384676	384676	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:384676C>T	ENST00000256509.2	+	8	1331	c.689C>T	c.(688-690)gCt>gTt	p.A230V	CHL1_ENST00000397491.2_Intron	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	226					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GTAAAGCATGCTAATGACTCA	0.343000													15	52					0	0	0.006122	0	0
ANLN	54443	broad.mit.edu	37	7	36438973	36438973	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:36438973G>T	ENST00000265748.2	+	3	679	c.458G>T	c.(457-459)cGg>cTg	p.R153L	ANLN_ENST00000396068.2_Missense_Mutation_p.R153L	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	153	Interaction with CD2AP.|Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCAGAGCAACGGCGCCGTTGG	0.448000													30	49					7.26314e-15	8.75413e-15	0.007291	1	0
PINX1	54984	broad.mit.edu	37	8	10622982	10622982	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:10622982C>A	ENST00000314787.3	-	7	1035	c.916G>T	c.(916-918)Gta>Tta	p.V306L	CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000553390.1_Intron|SOX7_ENST00000554914.1_Intron|PINX1_ENST00000519088.1_3'UTR|PINX1_ENST00000426190.2_3'UTR	NM_017884.4	NP_060354.4			PIN2/TERF1 interacting, telomerase inhibitor 1											kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GCTATCTCTACTGGTTTTTGC	0.522000													18	22					2.4624e-09	2.7592e-09	0.008871	1	0
GAB2	9846	broad.mit.edu	37	11	77934641	77934641	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:77934641G>T	ENST00000361507.4	-	6	1469	c.1384C>A	c.(1384-1386)Ctg>Atg	p.L462M	GAB2_ENST00000340149.2_Missense_Mutation_p.L424M	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	462					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			ATGGCCAACAGGGTGGAAGAA	0.522000													97	307					5.25376e-55	8.10258e-55	0.003610	1	0
TONSL	4796	broad.mit.edu	37	8	145661726	145661726	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:145661726G>C	ENST00000409379.3	-	17	2119	c.2090C>G	c.(2089-2091)cCc>cGc	p.P697R	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	697					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TTCTGGGCAGGGGCTCAAAGG	0.627000													49	205					0	0	0.003610	0	0
ERN2	10595	broad.mit.edu	37	16	23713772	23713772	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:23713772G>T	ENST00000256797.4	-	10	1332	c.1164C>A	c.(1162-1164)ccC>ccA	p.P388P	ERN2_ENST00000457008.2_Silent_p.P340P	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	340					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CAGCAGTGCTGGGTGAGCCCT	0.577000													142	154					1.89244e-60	2.95033e-60	0.003610	1	0
PTPRR	5801	broad.mit.edu	37	12	71092123	71092123	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:71092123G>T	ENST00000283228.2	-	8	1653	c.1201C>A	c.(1201-1203)Cca>Aca	p.P401T	PTPRR_ENST00000378778.1_Missense_Mutation_p.P195T|PTPRR_ENST00000342084.4_Missense_Mutation_p.P289T|PTPRR_ENST00000440835.2_Missense_Mutation_p.P156T|PTPRR_ENST00000549308.1_Missense_Mutation_p.P156T	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	401	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AAGTTCATTGGTATTTCCTGC	0.338000													43	17					2.35958e-20	3.06075e-20	0.009718	1	0
AP3B1	8546	broad.mit.edu	37	5	77523357	77523357	+	Splice_Site	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:77523357C>A	ENST00000255194.6	-	5	551		c.e5-1		AP3B1_ENST00000519295.1_Splice_Site	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit						endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGTTTGGGTCCTAAAAATAGT	0.333000									Hermansky-Pudlak syndrome				20	43					4.96729e-08	5.46239e-08	0.008871	1	0
POLN	353497	broad.mit.edu	37	4	2130952	2130952	+	Silent	SNP	C	C	A	rs141684891	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:2130952C>A	ENST00000511885.2	-	18	2174	c.1821G>T	c.(1819-1821)ccG>ccT	p.P607P	POLN_ENST00000382865.1_Silent_p.P607P			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	607					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			ACATGGCCCTCGGGGAGATCG	0.403000								DNA polymerases (catalytic subunits)					45	55					8.72198e-27	1.20452e-26	0.003610	1	0
PCDH1	5097	broad.mit.edu	37	5	141244125	141244125	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:141244125T>A	ENST00000287008.3	-	3	1918	c.1771A>T	c.(1771-1773)Agc>Tgc	p.S591C	PCDH1_ENST00000394536.3_Missense_Mutation_p.S591C|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.S569C|PCDH1_ENST00000456271.1_Missense_Mutation_p.S579C	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	591	Cadherin 5.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCCTGGAGGCTAGGACTGCCC	0.542000													10	85					0	0	0.006214	0	0
ZNF524	147807	broad.mit.edu	37	19	56114130	56114130	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:56114130A>G	ENST00000591046.1	+	1	886	c.652A>G	c.(652-654)Aag>Gag	p.K218E	ZNF524_ENST00000301073.3_Missense_Mutation_p.K218E			Q96C55	ZN524_HUMAN	zinc finger protein 524	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GCGCCATGCGAAGCGCAAGCA	0.706000													35	49					0	0	0.004289	0	0
TARSL2	123283	broad.mit.edu	37	15	102242533	102242533	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:102242533T>C	ENST00000335968.3	-	9	1346	c.1130A>G	c.(1129-1131)tAt>tGt	p.Y377C		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	377					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGATATTCCATAGATCCTCTG	0.403000													38	113					0	0	0.004878	0	0
RAD50	10111	broad.mit.edu	37	5	131923747	131923747	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:131923747C>A	ENST00000378823.3	+	7	1418	c.600C>A	c.(598-600)ctC>ctA	p.L200L	RAD50_ENST00000265335.6_Silent_p.L339L|RAD50_ENST00000487596.1_3'UTR	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	339					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTAGGCTTCTCAATCAGGAAA	0.343000								Homologous recombination					21	55					1.87028e-06	2.00402e-06	0.012319	1	0
SLC26A1	10861	broad.mit.edu	37	4	984068	984068	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:984068G>T	ENST00000361661.2	-	4	1036	c.659C>A	c.(658-660)tCc>tAc	p.S220Y	SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.S220Y|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	220						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GATGGTCACGGAGGCCCCCAT	0.672000													16	17					1.15088e-07	1.26144e-07	0.004007	1	0
SRRM2	23524	broad.mit.edu	37	16	2813036	2813036	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:2813036C>T	ENST00000301740.8	+	11	3056	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	836	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAAGTCATTCCAGTTCATCT	0.483000													71	334					0	0	0.003610	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389250	1389250	+	Missense_Mutation	SNP	G	G	T	rs71299249		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:1389250G>T	ENST00000324803.4	+	1	3911	c.951G>T	c.(949-951)atG>atT	p.M317I		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	317					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCATATGGAGTGCCCGC	0.662000													254	346					3.73478e-162	6.00917e-162	0.003610	1	0
FRMPD2	143162	broad.mit.edu	37	10	49414917	49414917	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:49414917C>T	ENST00000374201.3	-	14	1973	c.1671G>A	c.(1669-1671)agG>agA	p.R557R	FRMPD2_ENST00000407470.4_Silent_p.R525R|FRMPD2_ENST00000305531.3_Silent_p.R532R	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	557	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.R557S(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTTCTGGCCTCCTCTTCTCTG	0.488000													55	53					0	0	0.003610	0	0
MKKS	8195	broad.mit.edu	37	20	10386212	10386212	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:10386212C>A	ENST00000347364.2	-	6	2158	c.1396G>T	c.(1396-1398)Ggt>Tgt	p.G466C		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	466					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AGAATTTCACCTCCATCATGT	0.423000													28	52					4.7796e-09	5.32009e-09	0.004656	1	0
SLIT2	9353	broad.mit.edu	37	4	20530608	20530608	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:20530608G>C	ENST00000504154.1	+	16	1751	c.1499G>C	c.(1498-1500)tGc>tCc	p.C500S	SLIT2_ENST00000503823.1_Missense_Mutation_p.C492S|SLIT2_ENST00000273739.5_Missense_Mutation_p.C504S|SLIT2_ENST00000503837.1_Missense_Mutation_p.C496S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	500	LRRNT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGTGGAGACTGCTTTGCGGAT	0.388000													56	113					0	0	0.003610	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144305	91144305	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:91144305C>T	ENST00000371809.3	+	2	1315	c.1235C>T	c.(1234-1236)tCc>tTc	p.S412F	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	412							binding			endometrium(2)|large_intestine(3)|lung(8)	13						GAAAAAATGTCCCATTCCAGG	0.383000													72	81					0	0	0.003610	0	0
TBC1D26	353149	broad.mit.edu	37	17	15641379	15641379	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:15641379G>T	ENST00000437605.2	+	6	517	c.267G>T	c.(265-267)agG>agT	p.R89S	TBC1D26_ENST00000579428.1_Missense_Mutation_p.R89S|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	89						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CAAAATATAGGAGCACCAAGA	0.527000													7	144					0.000442599	0.00045906	0.006214	1	0
HEPACAM	220296	broad.mit.edu	37	11	124793277	124793277	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:124793277C>A	ENST00000298251.4	-	4	1167	c.762G>T	c.(760-762)gtG>gtT	p.V254V		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	254					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCACCAAGGTCACAAGGAGGA	0.522000													73	112					4.37588e-27	6.09346e-27	0.003610	1	0
AGMO	392636	broad.mit.edu	37	7	15584521	15584521	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:15584521G>T	ENST00000342526.3	-	3	454	c.285C>A	c.(283-285)acC>acA	p.T95T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	95					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAATATAACTGGTCAGTTCAA	0.338000													81	147					2.20581e-54	3.39667e-54	0.003610	1	0
NR2E1	7101	broad.mit.edu	37	6	108496054	108496054	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:108496054G>T	ENST00000368986.4	+	3	894	c.186G>T	c.(184-186)gtG>gtT	p.V62V	NR2E1_ENST00000368983.3_Silent_p.V99V	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	62					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GCTGTCCGGTGGACAAGACGC	0.587000													31	34					3.80469e-20	4.92892e-20	0.009535	1	0
SLC22A7	10864	broad.mit.edu	37	6	43266202	43266202	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:43266202C>T	ENST00000372585.5	+	1	201	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	SLC22A7_ENST00000372589.3_Missense_Mutation_p.L36F|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372574.3_Missense_Mutation_p.L36F	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	36						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)			ACTGCACTTCCTCCTGCCCAT	0.652000													41	96					0	0	0.009718	0	0
RNF123	63891	broad.mit.edu	37	3	49753568	49753568	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:49753568G>C	ENST00000327697.6	+	34	3517	c.3373G>C	c.(3373-3375)Gag>Cag	p.E1125Q	RNF123_ENST00000433785.1_Missense_Mutation_p.E237Q	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1125						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GGTGACAGCTGAGAGGAACCT	0.602000													9	24					0	0	0.006214	0	0
OR5D14	219436	broad.mit.edu	37	11	55563104	55563104	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55563104C>T	ENST00000335605.1	+	1	73	c.73C>T	c.(73-75)Ctt>Ttt	p.L25F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTACCCAAAGCTTCAGATTCC	0.393000													56	105					0	0	0.003610	0	0
OR1D2	4991	broad.mit.edu	37	17	2995893	2995893	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:2995893G>T	ENST00000331459.1	-	1	397	c.398C>A	c.(397-399)aCc>aAc	p.T133N		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	133					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CATGGCTGTGGTGTAGTGGAG	0.552000													88	42					8.6838e-40	1.29163e-39	0.003610	1	0
COL6A1	1291	broad.mit.edu	37	21	47421172	47421172	+	Nonsense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:47421172A>T	ENST00000361866.3	+	30	1942	c.1828A>T	c.(1828-1830)Aag>Tag	p.K610*	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	610	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TGCAGAATGCAAGTGCGGCCC	0.647000													117	65					0	0	0.003610	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43628679	43628679	+	Missense_Mutation	SNP	G	G	C	rs2491538		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:43628679G>C	ENST00000332857.6	-	3	291	c.263C>G	c.(262-264)cCg>cGg	p.P88R	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		CAGGCCTCTCGGGCACTCTCT	0.582000													6	250					0	0	0.003080	0	0
ZNF669	79862	broad.mit.edu	37	1	247264069	247264069	+	Silent	SNP	A	A	G	rs142281141		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:247264069A>G	ENST00000343381.6	-	4	1174	c.1002T>C	c.(1000-1002)taT>taC	p.Y334Y	ZNF669_ENST00000448299.2_Silent_p.Y248Y|ZNF669_ENST00000358785.4_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TGGTACATTTATAGGGTCTTT	0.413000													77	93					0	0	0.003610	0	0
FBN2	2201	broad.mit.edu	37	5	127614386	127614386	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:127614386C>A	ENST00000508053.1	-	63	8260	c.7286G>T	c.(7285-7287)gGa>gTa	p.G2429V	FBN2_ENST00000262464.4_Missense_Mutation_p.G2429V			P35556	FBN2_HUMAN	fibrillin 2	2429	TB 9.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGGGCAGTTCCAGGAAGTGG	0.473000													36	110					4.17593e-13	4.92094e-13	0.007835	1	0
IGKV4-1	28908	broad.mit.edu	37	2	89185384	89185384	+	RNA	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:89185384G>T	ENST00000390243.2	+	0	253																											TGATGACCCAGTCTCCAGACT	0.453000													7	105					0.000157383	0.000163914	0.003080	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802298	185802298	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:185802298G>A	ENST00000302277.6	+	4	2769	c.2175G>A	c.(2173-2175)tgG>tgA	p.W725*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	725						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACTGTTGTTGGAAAACCAAAA	0.323000													24	85					0	0	0.002299	0	0
MUC16	94025	broad.mit.edu	37	19	9009594	9009594	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:9009594C>A	ENST00000397910.4	-	39	39335	c.39132G>T	c.(39130-39132)caG>caT	p.Q13044H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13046	SEA 7.				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						TAACCAGACCCTGCAGGACCC	0.552000													145	75					2.78738e-67	4.40713e-67	0.003610	1	0
SSTR5	6755	broad.mit.edu	37	16	1129862	1129862	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:1129862G>A	ENST00000293897.4	+	1	1082	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.A332T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	332					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GGACGCTGACGCCACGGAGCC	0.662000													23	32					0	0	0.002299	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872151	51872151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:51872151C>A	ENST00000371497.5	+	2	3041	c.2154C>A	c.(2152-2154)tgC>tgA	p.C718*	TSHZ2_ENST00000329613.6_Nonsense_Mutation_p.C715*|TSHZ2_ENST00000603338.2_Nonsense_Mutation_p.C715*	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	718					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CACCTTCCTGCTCCAGCCCAA	0.582000													86	65					9.11151e-29	1.28123e-28	0.003610	1	0
ITGAE	3682	broad.mit.edu	37	17	3660400	3660400	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:3660400G>T	ENST00000263087.4	-	10	1147	c.1049C>A	c.(1048-1050)aCt>aAt	p.T350N		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	350	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTCCCTCGCAGTCCTAGCACT	0.597000													190	109					6.82201e-104	1.09239e-103	0.003610	1	0
EVC2	132884	broad.mit.edu	37	4	5633709	5633709	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:5633709C>A	ENST00000310917.2	-	11	2012	c.1281G>T	c.(1279-1281)caG>caT	p.Q427H	EVC2_ENST00000344408.5_Missense_Mutation_p.Q507H|EVC2_ENST00000344938.1_Missense_Mutation_p.Q507H	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	507						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCAAGTGCTCCTGTTCCAGGC	0.507000													31	81					6.38683e-12	7.44759e-12	0.008361	1	0
NKX2-2	4821	broad.mit.edu	37	20	21492565	21492565	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:21492565C>G	ENST00000377142.4	-	2	1174	c.818G>C	c.(817-819)tGg>tCg	p.W273S	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	273					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGGCGCTCACCAAGTCCACTG	0.677000													22	77					0	0	0.002299	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951518	130951518	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:130951518G>T	ENST00000312988.7	-	4	997	c.897C>A	c.(895-897)gcC>gcA	p.A299A		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	299					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCATCTGATTGGCTGGCTCGA	0.597000													151	111					1.95521e-66	3.08652e-66	0.003610	1	0
DUXA	503835	broad.mit.edu	37	19	57672164	57672164	+	Splice_Site	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:57672164C>A	ENST00000554048.2	-	2	26	c.25_splice	c.e2-1	p.K9_splice		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	9						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TTTTTACCATCTCTGTAGGAA	0.373000													52	30					1.54886e-18	1.95605e-18	0.003610	1	0
ZNF248	57209	broad.mit.edu	37	10	38121806	38121806	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:38121806G>A	ENST00000395867.3	-	6	1027	c.477C>T	c.(475-477)aaC>aaT	p.N159N	ZNF248_ENST00000357328.4_Silent_p.N159N|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTCTGGAACAGTTCTTTTTAC	0.318000													5	86					0	0	0.000602	0	0
IGSF1	3547	broad.mit.edu	37	X	130410951	130410951	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:130410951C>A	ENST00000370904.1	-	20	3453	c.2543G>T	c.(2542-2544)tGg>tTg	p.W848L	IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000361420.3_Missense_Mutation_p.W857L|IGSF1_ENST00000370910.1_Missense_Mutation_p.W848L|IGSF1_ENST00000370903.3_Missense_Mutation_p.W862L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	857	Ig-like C2-type 8.				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						GGGCTCAGACCAGATAGAAAA	0.567000													131	218					2.46087e-49	3.75488e-49	0.003610	1	0
PRRC2B	84726	broad.mit.edu	37	9	134343086	134343086	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:134343086G>A	ENST00000357304.4	+	12	1912	c.1857G>A	c.(1855-1857)aaG>aaA	p.K619K	PRRC2B_ENST00000458550.1_Silent_p.K619K|PRRC2B_ENST00000405995.1_Silent_p.K619K|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	619	Gln-rich.						protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGGAGTTCAAGTATCAGAAGT	0.552000													55	20					0	0	0.003610	0	0
TLR8	51311	broad.mit.edu	37	X	12938346	12938346	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:12938346T>C	ENST00000218032.6	+	2	1274	c.1187T>C	c.(1186-1188)tTa>tCa	p.L396S	TLR8_ENST00000311912.5_Missense_Mutation_p.L414S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	396					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			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						CTTCCAAACTTATCGACTATC	0.353000													59	63					0	0	0.003610	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74648925	74648925	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:74648925G>C	ENST00000541184.1	-	6	1041	c.564C>G	c.(562-564)atC>atG	p.I188M	ZDHHC15_ENST00000373367.3_Missense_Mutation_p.I197M|ZDHHC15_ENST00000373361.3_Intron	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	197						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TCCAGTATTTGATGAAATAGC	0.388000													5	54					0	0	0.000602	0	0
TM9SF1	10548	broad.mit.edu	37	14	24679976	24679976	+	Splice_Site	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:24679976T>C	ENST00000530611.1	-	4	393		c.e4-2		CHMP4A_ENST00000347519.6_Splice_Site|CHMP4A_ENST00000542700.2_Splice_Site|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_Splice_Site			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1						autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TCAATGTCCCTGAGAATGAGA	0.488000													7	122					0	0	0.004482	0	0
STAB1	23166	broad.mit.edu	37	3	52557671	52557671	+	Missense_Mutation	SNP	C	C	A	rs147205277		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:52557671C>A	ENST00000321725.6	+	66	7370	c.7294C>A	c.(7294-7296)Cca>Aca	p.P2432T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2432	FAS1 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCTGCAGGCCCCAGGGACAGT	0.632000													20	55					5.35267e-07	5.83505e-07	0.007413	1	0
MYL2	4633	broad.mit.edu	37	12	111353570	111353570	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:111353570T>A	ENST00000228841.8	-	3	165	c.118A>T	c.(118-120)Agg>Tgg	p.R40W	MYL2_ENST00000548438.1_Intron	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	40	EF-hand 1.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						AAGCCATCCCTGTTCTGGTCC	0.522000													121	79					0	0	0.003610	0	0
ZNF607	84775	broad.mit.edu	37	19	38190240	38190240	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:38190240G>C	ENST00000355202.4	-	5	1387	c.792C>G	c.(790-792)ctC>ctG	p.L264L	ZNF607_ENST00000395835.3_Silent_p.L263L|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GGCCTGCTTTGAGCCTAAAGG	0.448000													14	104					0	0	0.001855	0	0
PCDH7	5099	broad.mit.edu	37	4	31144127	31144127	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:31144127G>T	ENST00000543491.1	+	3	3424	c.3424G>T	c.(3424-3426)Ggg>Tgg	p.G1142W				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGCCCTGACTGGGAAGTGCAC	0.507000													75	123					6.20995e-33	8.91959e-33	0.003610	1	0
DSCAML1	57453	broad.mit.edu	37	11	117389416	117389416	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:117389416G>T	ENST00000321322.6	-	7	1456	c.1455C>A	c.(1453-1455)ttC>ttA	p.F485L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.F215L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	425	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACATCAGTGAGAACTGCTCCC	0.677000													11	45					9.70103e-10	1.09559e-09	0.008291	1	0
OR4K2	390431	broad.mit.edu	37	14	20344728	20344728	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:20344728T>C	ENST00000298642.2	+	1	338	c.302T>C	c.(301-303)aTa>aCa	p.I101T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CTTACCCAGATATTCTTTCTC	0.418000													92	190					0	0	0.003610	0	0
KIF26B	55083	broad.mit.edu	37	1	245848725	245848725	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:245848725G>A	ENST00000366518.4	+	9	1401	c.1297G>A	c.(1297-1299)Ggc>Agc	p.G433S	KIF26B_ENST00000407071.2_Missense_Mutation_p.G814S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	814					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCTCGTCCGGCGGGGAGAG	0.642000													5	40					0	0	0.001984	0	0
PRRC2C	23215	broad.mit.edu	37	1	171491391	171491391	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:171491391A>T	ENST00000367742.3	+	7	1068	c.826A>T	c.(826-828)Aca>Tca	p.T276S	PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000338920.4_Missense_Mutation_p.T274S|PRRC2C_ENST00000426496.2_Missense_Mutation_p.T274S|PRRC2C_ENST00000392078.3_Missense_Mutation_p.T276S			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	274							protein C-terminus binding										TTTATCTGAAACAAACAAGTA	0.363000													7	93					0	0	0.004482	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116061184	116061184	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:116061184C>T	ENST00000369271.3	-	13	1771	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.D544N|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.D491N|AFAP1L2_ENST00000491814.1_5'UTR	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	491					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GGCAGGCCATCGATGTAAGTG	0.612000													28	99					0	0	0.003271	0	0
PLA2R1	22925	broad.mit.edu	37	2	160813066	160813066	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:160813066C>T	ENST00000283243.7	-	21	3183	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	PLA2R1_ENST00000392771.1_Missense_Mutation_p.E993K	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	993	C-type lectin 6.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCCCCTTCTTCAGCACAGAAA	0.433000													6	112					0	0	0.001168	0	0
PMCHL2	5370	broad.mit.edu	37	5	70671772	70671772	+	RNA	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:70671772C>A	ENST00000502659.2	-	0	698				PMCHL2_ENST00000450213.2_RNA																							ACCGAATCAACACTAGAAAAG	0.378000													11	23					9.70103e-10	1.09559e-09	0.008291	1	0
COL6A3	1293	broad.mit.edu	37	2	238266025	238266025	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:238266025C>T	ENST00000295550.4	-	23	6999	c.6547G>A	c.(6547-6549)Ggg>Agg	p.G2183R	COL6A3_ENST00000353578.4_Missense_Mutation_p.G1977R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1576R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1982R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1983R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1977R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2183	Collagen-like 3.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCATCTCTCCCTGGGACACCC	0.498000													253	235					0	0	0.003610	0	0
CTCFL	140690	broad.mit.edu	37	20	56099352	56099352	+	Translation_Start_Site	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:56099352C>A	ENST00000426658.2	-	0	571				CTCFL_ENST00000432255.2_De_novo_Start_OutOfFrame|CTCFL_ENST00000429804.2_Intron|CTCFL_ENST00000423479.2_Intron|CTCFL_ENST00000422869.2_Intron|CTCFL_ENST00000422109.2_De_novo_Start_OutOfFrame|CTCFL_ENST00000243914.3_Intron|CTCFL_ENST00000371196.2_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_De_novo_Start_OutOfFrame			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTGCTGGAACCTAGCAGGCTT	0.522000													36	41					1.36239e-07	1.49165e-07	0.003271	1	0
HPS1	3257	broad.mit.edu	37	10	100189563	100189563	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:100189563C>T	ENST00000325103.6	-	9	1085	c.852G>A	c.(850-852)ggG>ggA	p.G284G	HPS1_ENST00000467246.1_Intron|HPS1_ENST00000338546.5_Silent_p.G284G|HPS1_ENST00000361490.4_Silent_p.G284G	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	284					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTGCAGAGCTCCCCCCAGTTG	0.692000									Hermansky-Pudlak syndrome				33	152					0	0	0.007835	0	0
COL3A1	1281	broad.mit.edu	37	2	189871112	189871112	+	Silent	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:189871112T>G	ENST00000304636.3	+	43	3305	c.3135T>G	c.(3133-3135)gcT>gcG	p.A1045A	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1045	Triple-helical region.				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)	CCCCTGGCGCTCCTGGTCATC	0.478000													25	92					0	0	0.003954	0	0
ANKFN1	162282	broad.mit.edu	37	17	54543802	54543802	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:54543802G>T	ENST00000566473.2	+	14	1652	c.1652G>T	c.(1651-1653)aGg>aTg	p.R551M	ANKFN1_ENST00000318698.2_Missense_Mutation_p.R551M			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	551										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GTCACCATCAGGGAGGTGGAG	0.413000													49	62					1.23713e-20	1.60683e-20	0.003610	1	0
ZNRF1	84937	broad.mit.edu	37	16	75127513	75127513	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:75127513G>C	ENST00000335325.4	+	2	1110	c.468G>C	c.(466-468)gaG>gaC	p.E156D	ZNRF1_ENST00000320619.6_Missense_Mutation_p.E156D|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000567962.1_Missense_Mutation_p.E156D|ZNRF1_ENST00000566250.1_Missense_Mutation_p.E156D	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	156						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						CTTCTGACGAGATGGAAATGC	0.502000													43	31					0	0	0.013114	0	0
COL14A1	7373	broad.mit.edu	37	8	121209086	121209086	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:121209086G>T	ENST00000297848.3	+	6	763	c.493G>T	c.(493-495)Ggt>Tgt	p.G165C	COL14A1_ENST00000309791.4_Missense_Mutation_p.G165C|COL14A1_ENST00000537875.1_Missense_Mutation_p.G165C|COL14A1_ENST00000247781.3_Missense_Mutation_p.G165C|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	165	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCTGGTCGATGGTTCATGGAG	0.443000													60	232					1.13205e-32	1.62368e-32	0.003610	1	0
CSN2	1447	broad.mit.edu	37	4	70823296	70823296	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:70823296G>T	ENST00000353151.3	-	5	382	c.371C>A	c.(370-372)cCc>cAc	p.P124H		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	124					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GTCAAAAAAGGGTATCGTTGG	0.478000													5	115					1.23904e-05	1.30398e-05	0.000602	1	0
ZNF831	128611	broad.mit.edu	37	20	57767170	57767170	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:57767170C>T	ENST00000371030.2	+	1	1096	c.1096C>T	c.(1096-1098)Ctt>Ttt	p.L366F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	366						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)					CCTGCACAGCCTTTCGGAGCA	0.766000													20	33					0	0	0.008871	0	0
ACSM3	6296	broad.mit.edu	37	16	20793094	20793094	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:20793094A>G	ENST00000289416.5	+	7	1479	c.1004A>G	c.(1003-1005)cAg>cGg	p.Q335R	ACSM3_ENST00000440284.2_Missense_Mutation_p.Q335R|ACSM3_ENST00000450120.2_Missense_Mutation_p.Q327R|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	335					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ATGCTTGTACAGAATGATATA	0.393000													36	55					0	0	0.004878	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685659	125685659	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:125685659G>A	ENST00000371126.1	-	1	1175	c.933C>T	c.(931-933)tgC>tgT	p.C311C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	311										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGTAGGTCAGGCACACATTAT	0.592000													42	72					0	0	0.013114	0	0
DMXL2	23312	broad.mit.edu	37	15	51772810	51772810	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:51772810G>A	ENST00000251076.5	-	24	6780	c.6493C>T	c.(6493-6495)Cat>Tat	p.H2165Y	DMXL2_ENST00000543779.2_Missense_Mutation_p.H2165Y|DMXL2_ENST00000449909.3_Missense_Mutation_p.H1529Y|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2165						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGGGCCCCATGAAGGCTACAG	0.428000													5	143					0	0	0.000602	0	0
VCAM1	7412	broad.mit.edu	37	1	101200239	101200239	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:101200239C>A	ENST00000294728.2	+	8	2075	c.1974C>A	c.(1972-1974)gcC>gcA	p.A658A	VCAM1_ENST00000370119.4_Silent_p.A596A|VCAM1_ENST00000347652.2_Silent_p.A566A|VCAM1_ENST00000370115.1_Silent_p.A459A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	658	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TCCGAAAGGCCCAGTTGAAGG	0.393000													16	56					1.37522e-17	1.72807e-17	0.007413	1	0
ZEB1	6935	broad.mit.edu	37	10	31810622	31810622	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:31810622G>C	ENST00000446923.2	+	7	2702	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q	ZEB1_ENST00000560721.2_Missense_Mutation_p.E767Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.E788Q|ZEB1_ENST00000542815.3_Missense_Mutation_p.E720Q|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.E787Q	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	787					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TACAGACTCAGAACCAGTTGT	0.448000													12	86					0	0	0.010729	0	0
DTNA	1837	broad.mit.edu	37	18	32391950	32391950	+	Missense_Mutation	SNP	G	G	T	rs147115867	by1000genomes	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:32391950G>T	ENST00000283365.9	+	7	827	c.476G>T	c.(475-477)aGt>aTt	p.S159I	DTNA_ENST00000598774.1_Missense_Mutation_p.S159I|DTNA_ENST00000598142.1_Missense_Mutation_p.S159I|DTNA_ENST00000444659.1_Missense_Mutation_p.S159I|DTNA_ENST00000399121.5_Missense_Mutation_p.S159I|DTNA_ENST00000554864.3_Missense_Mutation_p.S159I|DTNA_ENST00000315456.6_Missense_Mutation_p.S159I|DTNA_ENST00000597599.1_Missense_Mutation_p.S159I|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000348997.5_Missense_Mutation_p.S159I|DTNA_ENST00000598334.1_Missense_Mutation_p.S159I|DTNA_ENST00000399113.3_Missense_Mutation_p.S159I|DTNA_ENST00000269191.6_Missense_Mutation_p.S159I|DTNA_ENST00000595022.1_Missense_Mutation_p.S159I|DTNA_ENST00000596745.1_Missense_Mutation_p.S159I|DTNA_ENST00000269190.7_Missense_Mutation_p.S159I	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	159	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCTGACTCCAGTGGGGTGATG	0.383000													32	24					2.08457e-15	2.55232e-15	0.010818	1	0
NIPA1	123606	broad.mit.edu	37	15	23052651	23052651	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:23052651G>A	ENST00000437912.2	-	4	1494	c.197C>T	c.(196-198)cCa>cTa	p.P66L	NIPA1_ENST00000561183.1_Missense_Mutation_p.P66L|NIPA1_ENST00000538684.1_5'UTR|NIPA1_ENST00000337435.4_Missense_Mutation_p.P141L			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	141					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CTCAGACTTTGGGGAGTGGAT	0.493000													71	128					0	0	0.003610	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	100					0	0	0.009096	0	0
IL20	50604	broad.mit.edu	37	1	207039976	207039976	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:207039976C>G	ENST00000367098.1	+	4	736	c.373C>G	c.(373-375)Ctc>Gtc	p.L125V	IL20_ENST00000367096.3_Missense_Mutation_p.L125V|IL20_ENST00000391930.2_Missense_Mutation_p.L125V			Q9NYY1	IL20_HUMAN	interleukin 20	125					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GGACCTCCGGCTCTGTGTGAG	0.483000													152	185					0	0	0.003610	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98380134	98380134	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:98380134C>T	ENST00000339364.5	-	12	2035	c.1916G>A	c.(1915-1917)cGa>cAa	p.R639Q	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R238Q|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R461Q	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	639						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)		GGACTCCGATCGTTTCTTCTG	0.522000													154	166					0	0	0.003610	0	0
DNAJC9	23234	broad.mit.edu	37	10	75005739	75005739	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:75005739G>A	ENST00000372950.4	-	3	2189	c.517C>T	c.(517-519)Cca>Tca	p.P173S		NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	173					protein folding		heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					TTATAGGATGGGACCTCTCCG	0.418000													42	125					0	0	0.008740	0	0
CHD7	55636	broad.mit.edu	37	8	61748754	61748754	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:61748754A>G	ENST00000423902.2	+	16	4380	c.3901A>G	c.(3901-3903)Aaa>Gaa	p.K1301E	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1301	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCTGCTGCCAAAACTGAAGGC	0.502000													28	21					0	0	0.006320	0	0
C10orf120	399814	broad.mit.edu	37	10	124457976	124457976	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:124457976G>C	ENST00000329446.4	-	3	312	c.281C>G	c.(280-282)gCa>gGa	p.A94G		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	94										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				AAGCCTTCTTGCTGCTATGGT	0.463000													242	280					0	0	0.003610	0	0
EMC8	10328	broad.mit.edu	37	16	85814046	85814046	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:85814046C>A	ENST00000253457.3	-	4	656	c.412G>T	c.(412-414)Gcg>Tcg	p.A138S	EMC8_ENST00000435200.2_Intron	NM_006067.4	NP_006058.1			ER membrane protein complex subunit 8																		ATCGTAGGCGCTACGCAGTCC	0.602000													14	41					4.14922e-12	4.84397e-12	0.004007	1	0
SLITRK2	84631	broad.mit.edu	37	X	144905168	144905168	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:144905168A>T	ENST00000370490.1	+	1	5480	c.1225A>T	c.(1225-1227)Aac>Tac	p.N409Y	SLITRK2_ENST00000447897.2_Missense_Mutation_p.N409Y|SLITRK2_ENST00000428560.2_Missense_Mutation_p.N409Y|SLITRK2_ENST00000413937.2_Missense_Mutation_p.N409Y|SLITRK2_ENST00000434188.2_Missense_Mutation_p.N409Y			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	409						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAGGAAACAACAGGATTGC	0.403000													33	175					0	0	0.010818	0	0
C1orf173	127254	broad.mit.edu	37	1	75037660	75037660	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:75037660G>T	ENST00000326665.5	-	14	3952	c.3734C>A	c.(3733-3735)gCc>gAc	p.A1245D	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1245	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGATCTTTGGCTGCTAGCTC	0.617000													52	87					4.01344e-20	5.19264e-20	0.003610	1	0
USH2A	7399	broad.mit.edu	37	1	215933050	215933050	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:215933050C>G	ENST00000366943.2	-	57	11569	c.11183G>C	c.(11182-11184)gGc>gCc	p.G3728A	USH2A_ENST00000307340.3_Missense_Mutation_p.G3728A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3728	Fibronectin type-III 22.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCTCACTGCCACCCAGGAA	0.403000										HNSCC(13;0.011)			36	78					0	0	0.004878	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865424	6865424	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:6865424G>T	ENST00000307659.5	+	7	3770	c.3315G>T	c.(3313-3315)cgG>cgT	p.R1105R	KIAA0232_ENST00000425103.1_Silent_p.R1105R	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1105							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TCTCTCCTCGGACTCACTTTC	0.458000													50	79					1.81118e-26	2.48759e-26	0.003610	1	0
OGFR	11054	broad.mit.edu	37	20	61444777	61444777	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:61444777C>T	ENST00000370461.1	+	5	3931	c.1654C>T	c.(1654-1656)Ccc>Tcc	p.P552S	OGFR_ENST00000290291.6_Missense_Mutation_p.P604S|OGFR_ENST00000370468.3_Intron			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	604	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GACCCCAGGCCCCCGCCCGGC	0.741000													9	15					0	0	0.008291	0	0
ZNF334	55713	broad.mit.edu	37	20	45130263	45130263	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:45130263T>C	ENST00000457685.2	-	6	2924	c.1601A>G	c.(1600-1602)tAt>tGt	p.Y534C	ZNF334_ENST00000593880.1_Missense_Mutation_p.Y595C|ZNF334_ENST00000347606.4_Missense_Mutation_p.Y572C			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ATTACACTCATAGGGTCTCTG	0.443000													124	123					0	0	0.003610	0	0
ATP9B	374868	broad.mit.edu	37	18	77105831	77105831	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:77105831G>A	ENST00000426216.2	+	23	2691	c.2674G>A	c.(2674-2676)Gag>Aag	p.E892K	ATP9B_ENST00000543761.1_Missense_Mutation_p.E213K|ATP9B_ENST00000307671.7_Missense_Mutation_p.E892K	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	892					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GATTGGGATTGAGGGAAAGGT	0.468000													57	183					0	0	0.003610	0	0
ACSL1	2180	broad.mit.edu	37	4	185691555	185691555	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:185691555C>G	ENST00000515030.1	-	11	1316	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	ACSL1_ENST00000281455.2_Missense_Mutation_p.E331Q|ACSL1_ENST00000437665.3_Missense_Mutation_p.E160Q|ACSL1_ENST00000504342.1_Missense_Mutation_p.E331Q|ACSL1_ENST00000454703.2_Missense_Mutation_p.E160Q|ACSL1_ENST00000513317.1_Intron|ACSL1_ENST00000507295.1_Missense_Mutation_p.E297Q|ACSL1_ENST00000504900.1_Missense_Mutation_p.E331Q			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	331					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATGCCTACCTCTACAACTCTC	0.413000													10	21					0	0	0.006214	0	0
POTEA	340441	broad.mit.edu	37	8	43197344	43197344	+	RNA	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:43197344A>G	ENST00000522175.2	+	0	1097							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						AAAGCCAAATACATTCAGTGG	0.323000													62	51					0	0	0.003610	0	0
GFRA1	2674	broad.mit.edu	37	10	117853292	117853292	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:117853292C>A	ENST00000439649.3	-	7	1288	c.921G>T	c.(919-921)tgG>tgT	p.W307C	GFRA1_ENST00000544592.1_Missense_Mutation_p.W191C|GFRA1_ENST00000369236.1_Missense_Mutation_p.W307C|GFRA1_ENST00000355422.6_Missense_Mutation_p.W312C	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	312					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGCAGTCACACCATGGGGCCA	0.393000													18	84					5.01169e-05	5.24686e-05	0.004990	1	0
AZI1	22994	broad.mit.edu	37	17	79166570	79166570	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:79166570C>G	ENST00000269392.4	-	19	2651	c.2404G>C	c.(2404-2406)Gag>Cag	p.E802Q	AZI1_ENST00000450824.2_Missense_Mutation_p.E799Q|AZI1_ENST00000575907.1_Intron|AZI1_ENST00000374782.3_Intron	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	802					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCCCTCTCCTCAGCCACCTCA	0.731000													4	38					0	0	0.000602	0	0
LLGL2	3993	broad.mit.edu	37	17	73559175	73559175	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:73559175G>A	ENST00000392550.3	+	7	726	c.609G>A	c.(607-609)caG>caA	p.Q203Q	LLGL2_ENST00000167462.5_Silent_p.Q203Q|LLGL2_ENST00000577200.1_Silent_p.Q203Q|LLGL2_ENST00000578363.1_Silent_p.Q203Q|LLGL2_ENST00000375227.4_Silent_p.Q203Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	203					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACCCCAACCAGATCCTGATCG	0.657000													14	63					0	0	0.001855	0	0
ELTD1	64123	broad.mit.edu	37	1	79358874	79358874	+	Splice_Site	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:79358874C>T	ENST00000370742.3	-	13	1813	c.1749_splice	c.e13-1	p.V584_splice		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	584					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AAGAGATTAACCTGGAAAAAG	0.303000													13	23					0	0	0.001368	0	0
GALK2	2585	broad.mit.edu	37	15	49620315	49620315	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:49620315A>T	ENST00000327171.3	+	10	1535	c.1303A>T	c.(1303-1305)Acc>Tcc	p.T435S	GALK2_ENST00000544523.1_Missense_Mutation_p.T422S|GALK2_ENST00000559454.1_Missense_Mutation_p.T422S|GALK2_ENST00000396509.2_Missense_Mutation_p.T422S|GALK2_ENST00000560031.1_Missense_Mutation_p.T446S|GALK2_ENST00000543495.1_3'UTR	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	446					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		TTTGTTTGCTACCAAACCTGG	0.463000													21	46					0	0	0.010504	0	0
PRDM5	11107	broad.mit.edu	37	4	121828674	121828674	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:121828674C>A	ENST00000264808.3	-	2	372	c.132G>T	c.(130-132)atG>atT	p.M44I	PRDM5_ENST00000394435.2_Missense_Mutation_p.M44I|PRDM5_ENST00000428209.2_Missense_Mutation_p.M44I|PRDM5_ENST00000515109.1_Missense_Mutation_p.M44I	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	44	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGTCTTCAGGCATTCTCTTCT	0.323000													18	76					1.22574e-08	1.35683e-08	0.002299	1	0
KLHL21	9903	broad.mit.edu	37	1	6653499	6653499	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:6653499C>G	ENST00000377658.4	-	4	1771	c.1720G>C	c.(1720-1722)Gag>Cag	p.E574Q	KLHL21_ENST00000467612.1_Missense_Mutation_p.E207Q|KLHL21_ENST00000377663.3_3'UTR	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	574					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		CTGTCCAACTCGAAGCCACGC	0.687000													5	118					0	0	0.000602	0	0
DNAH6	1768	broad.mit.edu	37	2	84780069	84780069	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:84780069G>A	ENST00000389394.3	+	10	1650	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	DNAH6_ENST00000398278.2_Missense_Mutation_p.E505K|DNAH6_ENST00000237449.6_Missense_Mutation_p.E505K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	505	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAAGCAAGAAGAAGATGAATC	0.383000													6	134					0	0	0.001984	0	0
UNC13C	440279	broad.mit.edu	37	15	54542458	54542458	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:54542458G>T	ENST00000545554.1	+	7	3264	c.3264G>T	c.(3262-3264)ctG>ctT	p.L1088L	UNC13C_ENST00000260323.11_Silent_p.L1088L|UNC13C_ENST00000537900.1_Silent_p.L1086L			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1088					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGCAGGCACTGATCTACCCTA	0.463000													14	67					2.32078e-09	2.60343e-09	0.003163	1	0
ZIC3	7547	broad.mit.edu	37	X	136649403	136649403	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:136649403C>A	ENST00000287538.5	+	1	1103	c.553C>A	c.(553-555)Cac>Aac	p.H185N	ZIC3_ENST00000370606.3_Missense_Mutation_p.H185N	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	185					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CAACCAGGTCCACCTGGGGCT	0.692000													19	75					6.33239e-15	7.65068e-15	0.010504	1	0
SHANK1	50944	broad.mit.edu	37	19	51219610	51219610	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:51219610G>A	ENST00000293441.1	-	2	399	c.381C>T	c.(379-381)cgC>cgT	p.R127R	SHANK1_ENST00000359082.3_Silent_p.R127R|SHANK1_ENST00000391814.1_Silent_p.R127R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	127					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)		AGTTGGCATCGCGGCCGGAGG	0.632000													24	80					0	0	0.003330	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811608	5811608	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:5811608C>A	ENST00000381095.3	-	6	2328	c.1701G>T	c.(1699-1701)caG>caT	p.Q567H	NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q567H|NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q567H|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q587H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q567H	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	567					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GCAGATAGAGCTGGTCTTTGG	0.463000													48	50					1.4709e-25	2.01197e-25	0.003610	1	0
ZFPM2	23414	broad.mit.edu	37	8	106813683	106813683	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:106813683C>T	ENST00000407775.2	+	8	1623	c.1373C>T	c.(1372-1374)cCt>cTt	p.P458L	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P326L|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P326L|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P189L|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	458					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGATACAGCCTACAACAAAT	0.448000													34	91					0	0	0.012213	0	0
FAM46B	115572	broad.mit.edu	37	1	27332471	27332471	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:27332471C>G	ENST00000289166.5	-	2	1407	c.1242G>C	c.(1240-1242)ctG>ctC	p.L414L		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	414										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		AGGCGTGAGCCAGGAGAGGTT	0.662000													34	124					0	0	0.006230	0	0
VCAM1	7412	broad.mit.edu	37	1	101200240	101200240	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:101200240C>A	ENST00000294728.2	+	8	2076	c.1975C>A	c.(1975-1977)Cag>Aag	p.Q659K	VCAM1_ENST00000370119.4_Missense_Mutation_p.Q597K|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q567K|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q460K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	659	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CCGAAAGGCCCAGTTGAAGGA	0.393000													16	57					1.37522e-17	1.72807e-17	0.007413	1	0
NIFK	84365	broad.mit.edu	37	2	122493196	122493196	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:122493196C>A	ENST00000285814.4	-	2	308	c.236G>T	c.(235-237)aGt>aTt	p.S79I		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		79	RRM.				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TACCCTTTTACTTCTGGACAG	0.393000													7	73					7.48243e-07	8.13907e-07	0.006214	1	0
PLCH1	23007	broad.mit.edu	37	3	155303979	155303979	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:155303979C>A	ENST00000460012.1	-	5	742	c.385G>T	c.(385-387)Gtg>Ttg	p.V129L	PLCH1_ENST00000334686.6_Missense_Mutation_p.V129L|PLCH1_ENST00000414191.1_Missense_Mutation_p.V129L|PLCH1_ENST00000494598.1_Missense_Mutation_p.V147L|PLCH1_ENST00000340059.7_Missense_Mutation_p.V147L|PLCH1_ENST00000447496.2_Missense_Mutation_p.V147L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	147					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTGCTTCACCCATGTGCAG	0.408000													51	76					2.76378e-25	3.75994e-25	0.003610	1	0
PRND	23627	broad.mit.edu	37	20	4705236	4705236	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:4705236C>G	ENST00000305817.2	+	2	110	c.39C>G	c.(37-39)gtC>gtG	p.V13V		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	13					protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						TGGCCACTGTCTGCATGCTGC	0.632000													9	132					0	0	0.010729	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457372	6457372	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:6457372G>A	ENST00000358945.3	-	13	2183	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	SCNN1A_ENST00000228916.2_Silent_p.F559F|SCNN1A_ENST00000543768.1_Silent_p.F582F|SCNN1A_ENST00000360168.3_Silent_p.F618F|SCNN1A_ENST00000540037.1_Silent_p.F259F|SCNN1A_ENST00000396966.2_3'UTR			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	559					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCGAGGAGCCGAACCACAGGC	0.567000													23	117					0	0	0.003330	0	0
ZNF208	7757	broad.mit.edu	37	19	22157605	22157605	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:22157605T>C	ENST00000397126.4	-	4	379	c.231A>G	c.(229-231)atA>atG	p.I77M	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Missense_Mutation_p.I77M	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AATGAGAACATATAACTGAAA	0.294000													30	13					0	0	0.007291	0	0
FAT2	2196	broad.mit.edu	37	5	150914137	150914137	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:150914137G>A	ENST00000261800.5	-	12	9272	c.9260C>T	c.(9259-9261)gCg>gTg	p.A3087V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3087	Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCATCCGTCGCCTTGGCAAC	0.562000													66	78					0	0	0.003610	0	0
S1PR2	9294	broad.mit.edu	37	19	10334521	10334521	+	Nonstop_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:10334521C>G	ENST00000590320.1	-	2	1171	c.1061G>C	c.(1060-1062)tGa>tCa	p.*354S		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	0					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCCCCACCCTCAGACCACCGT	0.652000													14	41					0	0	0.003163	0	0
MSMP	692094	broad.mit.edu	37	9	35753749	35753749	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:35753749C>T	ENST00000436428.2	-	2	286	c.147G>A	c.(145-147)gaG>gaA	p.E49E	MSMP_ENST00000414286.1_5'UTR|RGP1_ENST00000378078.4_3'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	49						extracellular region				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						AATATTTCCCCTCATAGTGAC	0.537000													33	15					0	0	0.012213	0	0
ZIC3	7547	broad.mit.edu	37	X	136649405	136649405	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:136649405C>A	ENST00000287538.5	+	1	1105	c.555C>A	c.(553-555)caC>caA	p.H185Q	ZIC3_ENST00000370606.3_Missense_Mutation_p.H185Q	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	185					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACCAGGTCCACCTGGGGCTGC	0.692000													19	74					6.33239e-15	7.65068e-15	0.010504	1	0
ITFG3	83986	broad.mit.edu	37	16	313761	313761	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:313761G>T	ENST00000399932.3	+	10	1626	c.1175G>T	c.(1174-1176)gGc>gTc	p.G392V	ITFG3_ENST00000442458.2_Missense_Mutation_p.G392V|ITFG3_ENST00000450082.2_Missense_Mutation_p.G392V|ITFG3_ENST00000301678.3_Missense_Mutation_p.G392V|ITFG3_ENST00000301679.2_Missense_Mutation_p.G392V|ITFG3_ENST00000600536.1_Missense_Mutation_p.G392V			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	392						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AACGGAACTGGCACCGACAGA	0.552000													26	72					1.2476e-16	1.55023e-16	0.006320	1	0
ZMYND11	10771	broad.mit.edu	37	10	255971	255971	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:255971T>A	ENST00000309776.4	+	3	687	c.139T>A	c.(139-141)Ttg>Atg	p.L47M	ZMYND11_ENST00000381602.4_Missense_Mutation_p.L47M|ZMYND11_ENST00000602682.1_Missense_Mutation_p.L87M|ZMYND11_ENST00000558098.2_Missense_Mutation_p.L87M|ZMYND11_ENST00000381607.4_Missense_Mutation_p.L47M|ZMYND11_ENST00000545619.1_Missense_Mutation_p.L47M|ZMYND11_ENST00000403354.1_Missense_Mutation_p.L87M|ZMYND11_ENST00000402736.1_Missense_Mutation_p.L87M|ZMYND11_ENST00000509513.2_Missense_Mutation_p.L87M|ZMYND11_ENST00000381604.4_Missense_Mutation_p.L47M|ZMYND11_ENST00000381584.1_Missense_Mutation_p.L70M|ZMYND11_ENST00000397962.3_Missense_Mutation_p.L87M|ZMYND11_ENST00000381591.1_Missense_Mutation_p.L87M|ZMYND11_ENST00000535374.1_5'UTR|ZMYND11_ENST00000397959.3_Missense_Mutation_p.L87M	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	47					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGGATATTGGTTGCCAGGAGA	0.353000													31	90					0	0	0.012213	0	0
PROM2	150696	broad.mit.edu	37	2	95952274	95952274	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:95952274C>T	ENST00000317620.9	+	17	2128	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L	PROM2_ENST00000542147.1_Silent_p.L616L|PROM2_ENST00000403131.2_Silent_p.L665L|PROM2_ENST00000317668.4_Silent_p.L665L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	665						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCCAAGGACTCAGAAACCTTC	0.627000													29	106					0	0	0.003271	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731136	140731136	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:140731136C>A	ENST00000523390.1	+	1	1309	c.1309C>A	c.(1309-1311)Cac>Aac	p.H437N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCACCCTGCACATCTCCGA	0.547000													17	52					1.40151e-16	1.73504e-16	0.010504	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299101	125299101	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:125299101G>T	ENST00000538699.1	-	2	887	c.807C>A	c.(805-807)gcC>gcA	p.A269A	DCAF12L2_ENST00000360028.2_Silent_p.A269A	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	269										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGCCGCTGAAGGCCAGGGCCC	0.637000													31	68					1.74807e-11	2.01731e-11	0.010818	1	0
CATSPERG	57828	broad.mit.edu	37	19	38852329	38852329	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:38852329C>G	ENST00000409235.3	+	17	2037	c.1922C>G	c.(1921-1923)tCg>tGg	p.S641W	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.S601W	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	641					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGCCCCTTCTCGGTGATGCGC	0.682000													3	146					0	0	0.004672	0	0
PTPRD	5789	broad.mit.edu	37	9	8633370	8633370	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:8633370G>T	ENST00000381196.4	-	11	842	c.299C>A	c.(298-300)gCc>gAc	p.A100D	PTPRD_ENST00000397617.3_Missense_Mutation_p.A100D|PTPRD_ENST00000537002.1_Missense_Mutation_p.A100D|PTPRD_ENST00000358503.5_Missense_Mutation_p.A100D|PTPRD_ENST00000360074.4_Missense_Mutation_p.A100D|PTPRD_ENST00000540109.1_Missense_Mutation_p.A100D|PTPRD_ENST00000486161.1_Missense_Mutation_p.A100D|PTPRD_ENST00000356435.5_Missense_Mutation_p.A100D|PTPRD_ENST00000355233.5_Missense_Mutation_p.A100D|PTPRD_ENST00000463477.1_Missense_Mutation_p.A100D|PTPRD_ENST00000397606.3_Missense_Mutation_p.A100D|PTPRD_ENST00000397611.3_Missense_Mutation_p.A100D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	100	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTATTTGAGGCCACACATTC	0.433000										TSP Lung(15;0.13)			108	44					4.44732e-65	7.00959e-65	0.003610	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374118	95374118	+	RNA	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:95374118T>G	ENST00000494840.1	-	0	1743					NR_077228.1																						GATGTTACAATATCTGCAAAT	0.398000													13	30					0	0	0.001855	0	0
CCDC37	348807	broad.mit.edu	37	3	126133017	126133017	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:126133017C>G	ENST00000393425.1	+	4	319	c.220C>G	c.(220-222)Ctc>Gtc	p.L74V	CCDC37_ENST00000505024.1_Missense_Mutation_p.L74V|CCDC37_ENST00000510833.1_Missense_Mutation_p.L74V|CCDC37_ENST00000352312.1_Missense_Mutation_p.L74V			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	74										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GAATAAGGCTCTCTCCGTGAG	0.552000													57	236					0	0	0.003610	0	0
TLN1	7094	broad.mit.edu	37	9	35707125	35707125	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:35707125C>A	ENST00000314888.9	-	37	5252	c.4899G>T	c.(4897-4899)ctG>ctT	p.L1633L	TLN1_ENST00000540444.1_Silent_p.L1633L|TLN1_ENST00000464379.1_Intron	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1633	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTGGCCGGCCAGCACCGACC	0.592000													157	56					3.42498e-63	5.38135e-63	0.003610	1	0
CDC20	991	broad.mit.edu	37	1	43825182	43825182	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:43825182A>G	ENST00000372462.1	+	2	406	c.203A>G	c.(202-204)cAg>cGg	p.Q68R	CDC20_ENST00000310955.6_Missense_Mutation_p.Q68R			Q12834	CDC20_HUMAN	cell division cycle 20	68					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCCAAGGTTCAGACCACTCCT	0.567000													35	76					0	0	0.004289	0	0
TCF4	6925	broad.mit.edu	37	18	52942913	52942913	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:52942913C>A	ENST00000354452.3	-	10	1337	c.726G>T	c.(724-726)ttG>ttT	p.L242F	TCF4_ENST00000568740.1_Missense_Mutation_p.L217F|TCF4_ENST00000561831.3_Missense_Mutation_p.L82F|TCF4_ENST00000564999.1_Missense_Mutation_p.L242F|TCF4_ENST00000565018.2_Missense_Mutation_p.L242F|TCF4_ENST00000544241.2_Missense_Mutation_p.L171F|TCF4_ENST00000568673.1_Missense_Mutation_p.L218F|TCF4_ENST00000570287.2_Missense_Mutation_p.L82F|TCF4_ENST00000537856.3_Missense_Mutation_p.L112F|TCF4_ENST00000567880.1_Missense_Mutation_p.L182F|TCF4_ENST00000543082.1_Missense_Mutation_p.L200F|TCF4_ENST00000537578.1_Missense_Mutation_p.L218F|TCF4_ENST00000398339.1_Missense_Mutation_p.L344F|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000457482.3_Missense_Mutation_p.L82F|TCF4_ENST00000356073.4_Missense_Mutation_p.L242F|TCF4_ENST00000564403.2_Missense_Mutation_p.L248F|TCF4_ENST00000566279.1_Missense_Mutation_p.L182F|TCF4_ENST00000564228.1_Missense_Mutation_p.L171F|TCF4_ENST00000540999.1_Missense_Mutation_p.L218F|TCF4_ENST00000561992.1_Missense_Mutation_p.L112F|TCF4_ENST00000566286.1_Missense_Mutation_p.L240F|TCF4_ENST00000570177.2_Missense_Mutation_p.L112F	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	242					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AAGAGTTGCCCAACATTCCTG	0.502000													137	131					5.40711e-61	8.44282e-61	0.003610	1	0
FCRL3	115352	broad.mit.edu	37	1	157665859	157665859	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:157665859A>G	ENST00000368184.3	-	7	1394	c.1103T>C	c.(1102-1104)cTc>cCc	p.L368P	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.L368P|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	368	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCACGTGCTGAGGATGGGGCT	0.532000													11	94					0	0	0.001368	0	0
RTL1	388015	broad.mit.edu	37	14	101348393	101348393	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:101348393G>T	ENST00000534062.1	-	1	2791	c.2733C>A	c.(2731-2733)tcC>tcA	p.S911S		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	911										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CCTCGATAGGGGAGATGTTGC	0.587000													7	22					2.0095e-06	2.15089e-06	0.001984	1	0
EXPH5	23086	broad.mit.edu	37	11	108380380	108380380	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:108380380G>C	ENST00000265843.4	-	6	5964	c.5854C>G	c.(5854-5856)Cca>Gca	p.P1952A	EXPH5_ENST00000428840.1_Missense_Mutation_p.P1876A|EXPH5_ENST00000525344.1_Missense_Mutation_p.P1945A|EXPH5_ENST00000443411.1_Missense_Mutation_p.P1764A	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1952					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGTTCACTTGGAGATAAGCCA	0.448000													9	123					0	0	0.004482	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683176	50683176	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:50683176G>A	ENST00000008391.3	+	2	615	c.387G>A	c.(385-387)gaG>gaA	p.E129E		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	129							DNA binding|sequence-specific DNA binding transcription factor activity	p.E129D(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GCCTGGACGAGCAGAGGCGGG	0.602000													38	194					0	0	0.008740	0	0
TNK2	10188	broad.mit.edu	37	3	195595457	195595457	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:195595457G>A	ENST00000333602.6	-	12	2284	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L	TNK2_ENST00000381916.2_Missense_Mutation_p.P634L|TNK2_ENST00000392400.1_Missense_Mutation_p.P556L|TNK2_ENST00000428187.1_Missense_Mutation_p.P588L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	556				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CTTGGTGCCCGGCACCCGCGC	0.726000													4	26					0	0	0.009096	0	0
SAGE1	55511	broad.mit.edu	37	X	134991835	134991835	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:134991835G>T	ENST00000535938.1	+	14	1787	c.1620G>T	c.(1618-1620)atG>atT	p.M540I	SAGE1_ENST00000537770.1_Missense_Mutation_p.M164I|SAGE1_ENST00000324447.3_Missense_Mutation_p.M540I|SAGE1_ENST00000370709.3_Missense_Mutation_p.M540I	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	540										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAGAGAGGATGGAAAATAACC	0.418000													26	126					1.42536e-11	1.64868e-11	0.004656	1	0
MLLT6	4302	broad.mit.edu	37	17	36874193	36874193	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:36874193G>A	ENST00000325718.7	+	12	2020	c.1929G>A	c.(1927-1929)gaG>gaA	p.E643E	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	643					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CCCAAGCTGAGAGCAGCCACA	0.537000			T	MLL	AL								68	122					0	0	0.003610	0	0
ATRNL1	26033	broad.mit.edu	37	10	117075071	117075071	+	Silent	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:117075071A>G	ENST00000355044.3	+	18	2988	c.2862A>G	c.(2860-2862)gaA>gaG	p.E954E	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Silent_p.E51E	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	954	PSI 5.					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)		AGTGTTTGGAACAGCCTGGAT	0.418000													51	70					0	0	0.003610	0	0
MYCBP2	23077	broad.mit.edu	37	13	77713445	77713445	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:77713445C>T	ENST00000407578.2	-	52	7811	c.7545G>A	c.(7543-7545)ctG>ctA	p.L2515L	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.L2477L|MYCBP2_ENST00000357337.6_Silent_p.L2477L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CATTCAGCCTCAGCCACACAC	0.428000													26	177					0	0	0.004656	0	0
BCL11B	64919	broad.mit.edu	37	14	99641922	99641922	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:99641922C>A	ENST00000345514.2	-	3	1304	c.1038G>T	c.(1036-1038)acG>acT	p.T346T	BCL11B_ENST00000357195.3_Silent_p.T417T|BCL11B_ENST00000443726.2_Silent_p.T223T	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	417						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGGGGGCGGCGTGCCGCCAG	0.687000			T	TLX3	T-ALL								28	9					1.74197e-06	1.87253e-06	0.006320	1	0
LAMA2	3908	broad.mit.edu	37	6	129498924	129498924	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:129498924C>G	ENST00000421865.2	+	10	1429	c.1380C>G	c.(1378-1380)taC>taG	p.Y460*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	460	Laminin EGF-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCAGGGGCTACACTGGCTACC	0.488000													10	99					0	0	0.008291	0	0
EPHA5	2044	broad.mit.edu	37	4	66231705	66231705	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:66231705T>A	ENST00000273854.3	-	11	2595	c.1995A>T	c.(1993-1995)gaA>gaT	p.E665D	EPHA5_ENST00000354839.4_Missense_Mutation_p.E643D|EPHA5_ENST00000432638.2_Missense_Mutation_p.E502D|EPHA5_ENST00000511294.1_Missense_Mutation_p.E666D	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	665					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCTTAGCAAATTCGTGGACAG	0.358000										TSP Lung(17;0.13)			35	115					0	0	0.005524	0	0
TCEAL5	340543	broad.mit.edu	37	X	102529380	102529380	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:102529380C>T	ENST00000372680.1	-	3	406	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	38	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						ttttcttcctcgtctgacttt	0.483000													5	23					0	0	0.001168	0	0
ARFIP2	23647	broad.mit.edu	37	11	6501223	6501223	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:6501223C>G	ENST00000254584.2	-	3	258	c.175G>C	c.(175-177)Ggt>Cgt	p.G59R	ARFIP2_ENST00000423813.2_Missense_Mutation_p.G21R|ARFIP2_ENST00000396777.3_Missense_Mutation_p.G59R|ARFIP2_ENST00000445086.2_Silent_p.L13L|ARFIP2_ENST00000525235.1_Missense_Mutation_p.G59R	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	59					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTCCATCACCAGAGCCCCCA	0.527000													46	270					0	0	0.003610	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55258819	55258819	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:55258819G>A	ENST00000342376.3	+	5	728	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TTCACCCACTGAACCAAGCTC	0.488000													82	461					0	0	0.003610	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559566	44559566	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:44559566G>C	ENST00000332567.4	-	1	2422	c.2070C>G	c.(2068-2070)agC>agG	p.S690R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	690					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						caccgccgctgctgctCTGGC	0.662000													61	39					0	0	0.003610	0	0
CWC27	10283	broad.mit.edu	37	5	64081337	64081337	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:64081337G>T	ENST00000508024.1	+	5	627	c.426G>T	c.(424-426)ttG>ttT	p.L142F	CWC27_ENST00000381070.3_Missense_Mutation_p.L142F			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	142	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						ATAACATGTTGCGACTGTCAG	0.333000													43	141					4.44401e-20	5.73495e-20	0.010771	1	0
ADAM23	8745	broad.mit.edu	37	2	207452876	207452876	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:207452876C>A	ENST00000264377.3	+	20	2178	c.1850C>A	c.(1849-1851)aCa>aAa	p.T617K	ADAM23_ENST00000374415.3_Missense_Mutation_p.T617K|ADAM23_ENST00000374416.1_Missense_Mutation_p.T617K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	617					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ATCTGGGGAACAAGTAGGTCG	0.522000													43	85					7.63091e-17	9.5055e-17	0.007835	1	0
THRA	7067	broad.mit.edu	37	17	38233829	38233829	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:38233829C>T	ENST00000450525.2	+	4	681	c.190C>T	c.(190-192)Cac>Tac	p.H64Y	THRA_ENST00000546243.1_Missense_Mutation_p.H64Y|THRA_ENST00000264637.4_Missense_Mutation_p.H64Y|THRA_ENST00000584985.1_Missense_Mutation_p.H64Y|THRA_ENST00000394121.4_Missense_Mutation_p.H64Y	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	64					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	AACTGGTTATCACTACCGCTG	0.542000													72	154					0	0	0.003610	0	0
NAV3	89795	broad.mit.edu	37	12	78515788	78515788	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:78515788C>T	ENST00000397909.2	+	16	3991	c.3818C>T	c.(3817-3819)tCa>tTa	p.S1273L	NAV3_ENST00000536525.2_Missense_Mutation_p.S1273L|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.S1273L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1273	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAATCTTCCTCAGTAATGCCC	0.527000										HNSCC(70;0.22)			7	62					0	0	0.001984	0	0
CXorf67	340602	broad.mit.edu	37	X	51151342	51151342	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:51151342G>T	ENST00000342995.2	+	1	1576	c.1474G>T	c.(1474-1476)Gag>Tag	p.E492*						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						GGCAGAAATAGAGAGCACAGC	0.507000													20	36					4.35082e-09	4.86439e-09	0.010504	1	0
LEPR	3953	broad.mit.edu	37	1	66067536	66067536	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:66067536C>T	ENST00000349533.6	+	10	1481	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	LEPR_ENST00000344610.8_Silent_p.I432I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Silent_p.I432I|LEPR_ENST00000371059.3_Silent_p.I432I|LEPR_ENST00000371060.3_Silent_p.I432I|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	432					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATGTCAATATCAATATCTCAT	0.303000													21	46					0	0	0.008871	0	0
RET	5979	broad.mit.edu	37	10	43622127	43622127	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:43622127C>T	ENST00000355710.3	+	19	3376	c.3144C>T	c.(3142-3144)ctC>ctT	p.L1048L	RET_ENST00000340058.5_Silent_p.L1048L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1048					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ATGCCCCCCTCCCTCGAGCCC	0.522000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				71	70					0	0	0.003610	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22856817	22856817	+	Splice_Site	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:22856817C>T	ENST00000376573.4	-	6	869	c.639_splice	c.e6-1	p.G214_splice	PIP4K2A_ENST00000545335.1_Splice_Site_p.G155_splice|PIP4K2A_ENST00000323883.7_Splice_Site_p.G74_splice|PIP4K2A_ENST00000422321.1_5'UTR	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	214	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CACTGTAGAGCCCTGAAACAC	0.483000													31	179					0	0	0.010818	0	0
SCN9A	6335	broad.mit.edu	37	2	167108323	167108323	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:167108323C>T	ENST00000303354.6	-	18	3767	c.3427G>A	c.(3427-3429)Gag>Aag	p.E1143K	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.E1142K|SCN9A_ENST00000375387.4_Missense_Mutation_p.E1143K|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1131K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1142						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GGTTCAGCCTCTGCTTCTTCT	0.473000													4	85					0	0	0.009096	0	0
TAP2	6891	broad.mit.edu	37	6	32803116	32803116	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:32803116T>A	ENST00000374897.2	-	5	891	c.760A>T	c.(760-762)Agc>Tgc	p.S254C	TAP2_ENST00000374899.4_Missense_Mutation_p.S254C|TAP2_ENST00000452392.2_Missense_Mutation_p.S254C	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	254	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GTATCCGAGCTCAGCCGTGAG	0.542000													51	63					0	0	0.003610	0	0
KIF21B	23046	broad.mit.edu	37	1	200959710	200959710	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:200959710G>T	ENST00000332129.2	-	19	3145	c.2829C>A	c.(2827-2829)ctC>ctA	p.L943L	KIF21B_ENST00000461742.2_Silent_p.L943L|KIF21B_ENST00000422435.2_Silent_p.L943L|KIF21B_ENST00000360529.5_Silent_p.L943L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	943					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCACCTTGATGAGCCGCTCCA	0.582000													21	60					1.96292e-10	2.24206e-10	0.010504	1	0
ABCA10	10349	broad.mit.edu	37	17	67170883	67170883	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:67170883G>A	ENST00000269081.4	-	25	3822	c.2913C>T	c.(2911-2913)ctC>ctT	p.L971L	ABCA10_ENST00000519732.1_Intron|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	971					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTGAAGGCCAGAGGCCTGAAA	0.368000													7	196					0	0	0.001984	0	0
CAPN13	92291	broad.mit.edu	37	2	30998891	30998891	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:30998891C>T	ENST00000295055.8	-	4	468	c.292G>A	c.(292-294)Gca>Aca	p.A98T	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.A98T	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	98	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GATCCCAGTGCTGCCAGGAAC	0.517000													9	90					0	0	0.006214	0	0
FILIP1L	11259	broad.mit.edu	37	3	99568743	99568743	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:99568743G>A	ENST00000331335.5	-	5	2247	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	FILIP1L_ENST00000383694.2_Nonsense_Mutation_p.Q353*|FILIP1L_ENST00000487087.1_Nonsense_Mutation_p.Q169*|FILIP1L_ENST00000354552.3_Nonsense_Mutation_p.Q593*|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000471562.1_Nonsense_Mutation_p.Q353*|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	593						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TCCAATGATTGAAGCCTATTT	0.323000													4	156					0	0	0.009096	0	0
PHF3	23469	broad.mit.edu	37	6	64421138	64421138	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:64421138A>G	ENST00000262043.3	+	15	4217	c.3877A>G	c.(3877-3879)Agt>Ggt	p.S1293G	PHF3_ENST00000393387.1_Missense_Mutation_p.S1293G			Q92576	PHF3_HUMAN	PHD finger protein 3	1293					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGCATACTTCAGTAGCAGAAA	0.373000													37	55					0	0	0.005524	0	0
USP19	10869	broad.mit.edu	37	3	49152706	49152706	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:49152706C>A	ENST00000453664.1	-	13	2259	c.1941G>T	c.(1939-1941)gcG>gcT	p.A647A	USP19_ENST00000398888.2_Silent_p.A556A|USP19_ENST00000398892.3_Silent_p.A596A|USP19_ENST00000398896.1_Silent_p.A364A|USP19_ENST00000398898.2_Silent_p.A596A|USP19_ENST00000434032.2_Silent_p.A657A|USP19_ENST00000417901.1_Silent_p.A659A	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	556					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			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)		CCTTCCACAGCGCCCGAAGCA	0.602000													16	48					2.32078e-09	2.60343e-09	0.003163	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106810187	106810187	+	Splice_Site	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:106810187T>A	ENST00000526355.1	-	4	1673	c.1206_splice	c.e4+1	p.K402_splice	GUCY1A2_ENST00000347596.2_Splice_Site_p.K402_splice|GUCY1A2_ENST00000282249.2_Splice_Site_p.K402_splice	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	402					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGCACTTACCTTGTCTTTATT	0.423000													29	137					0	0	0.009535	0	0
MCPH1	79648	broad.mit.edu	37	8	6302793	6302793	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:6302793A>C	ENST00000344683.5	+	8	1626	c.1550A>C	c.(1549-1551)gAc>gCc	p.D517A	MCPH1_ENST00000519480.1_Missense_Mutation_p.D517A|MCPH1_ENST00000522905.1_Missense_Mutation_p.D469A	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	517						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GGGAAAGAAGACGCATGCCCA	0.493000													33	50					0	0	0.003755	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672860	141672860	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:141672860C>G	ENST00000547270.1	-	1	713	c.630G>C	c.(628-630)ctG>ctC	p.L210L		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	210					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAGAAGAAACCAGAAACAATA	0.448000													3	110					0	0	0.004672	0	0
GTF3C1	2975	broad.mit.edu	37	16	27472818	27472818	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:27472818G>A	ENST00000356183.4	-	37	6198	c.6183C>T	c.(6181-6183)ttC>ttT	p.F2061F	GTF3C1_ENST00000561623.1_Silent_p.F2036F	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2061						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CGGGTGTAGAGAAGAGCGAGA	0.627000													83	111					0	0	0.003610	0	0
CDH15	1013	broad.mit.edu	37	16	89259965	89259965	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:89259965G>C	ENST00000289746.2	+	12	2008	c.1943G>C	c.(1942-1944)cGa>cCa	p.R648P		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	648					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GACGACCTTCGAGACAATGTC	0.672000													6	38					0	0	0.001168	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231795	29231795	+	RNA	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:29231795A>T	ENST00000441381.1	+	0	266																											GATCATCTCCAGCTGAGGCTT	0.388000													42	69					0	0	0.007835	0	0
MEDAG	84935	broad.mit.edu	37	13	31495911	31495911	+	Silent	SNP	C	C	T	rs138341583		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:31495911C>T	ENST00000380482.4	+	4	1040	c.715C>T	c.(715-717)Ctg>Ttg	p.L239L	TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000586464.1_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis																		TAAGTTATTTCTGGAAAAAAT	0.373000													17	59					0	0	0.007413	0	0
PCDH15	65217	broad.mit.edu	37	10	56138692	56138692	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:56138692C>G	ENST00000373965.2	-	4	562	c.168G>C	c.(166-168)ctG>ctC	p.L56L	PCDH15_ENST00000395442.1_Silent_p.L56L|PCDH15_ENST00000395438.1_Silent_p.L56L|PCDH15_ENST00000395433.1_Silent_p.L34L|PCDH15_ENST00000361849.3_Silent_p.L56L|PCDH15_ENST00000373957.3_Silent_p.L34L|PCDH15_ENST00000395440.1_Silent_p.L56L|PCDH15_ENST00000395446.1_Silent_p.L56L|PCDH15_ENST00000437009.1_Silent_p.L56L|PCDH15_ENST00000320301.6_Silent_p.L56L|PCDH15_ENST00000395430.1_Silent_p.L56L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Silent_p.L56L|PCDH15_ENST00000395432.2_Silent_p.L56L|PCDH15_ENST00000414778.1_Silent_p.L61L|PCDH15_ENST00000373955.1_Silent_p.L56L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	56	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTTGTCCACCAGAATTGTAC	0.428000										HNSCC(58;0.16)			53	213					0	0	0.003610	0	0
KAT6A	7994	broad.mit.edu	37	8	41790299	41790299	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:41790299G>A	ENST00000396930.3	-	18	5982	c.5439C>T	c.(5437-5439)ccC>ccT	p.P1813P	KAT6A_ENST00000406337.1_Silent_p.P1813P|KAT6A_ENST00000265713.2_Silent_p.P1813P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1813					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CCAAGTTTGGGGGTGGCGTCA	0.527000													43	178					0	0	0.008740	0	0
MYH4	4622	broad.mit.edu	37	17	10360956	10360956	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:10360956G>T	ENST00000255381.2	-	16	1788	c.1678C>A	c.(1678-1680)Ctt>Att	p.L560I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	560	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						GATTTTCCAAGATGTTGTTCA	0.498000													15	168					1.05317e-09	1.18807e-09	0.002450	1	0
VLDLR	7436	broad.mit.edu	37	9	2646540	2646540	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:2646540A>G	ENST00000382100.2	+	11	2047	c.1691A>G	c.(1690-1692)gAc>gGc	p.D564G	VLDLR_ENST00000478776.1_3'UTR|VLDLR_ENST00000382099.2_Missense_Mutation_p.D564G	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	564					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ATAGCTGTGGACCCACTGTCT	0.458000													14	41					0	0	0.002450	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497382	39497382	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:39497382G>C	ENST00000442487.3	+	3	418	c.291G>C	c.(289-291)aaG>aaC	p.K97N	APOBEC3H_ENST00000401756.1_Missense_Mutation_p.K97N|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.K97N|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.K97N	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	97					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					ACTTCATCAAGGCTCACGACC	0.602000													19	83					0	0	0.008871	0	0
CFH	3075	broad.mit.edu	37	1	196648785	196648785	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:196648785G>T	ENST00000367429.4	+	6	892	c.652G>T	c.(652-654)Gga>Tga	p.G218*	CFH_ENST00000439155.2_Nonsense_Mutation_p.G218*|CFH_ENST00000359637.2_Nonsense_Mutation_p.G154*	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	218	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTTATAAATGGATCTCCTAT	0.303000													21	54					6.33239e-15	7.65068e-15	0.010504	1	0
LRP1B	53353	broad.mit.edu	37	2	141135754	141135754	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:141135754C>G	ENST00000389484.3	-	68	11604	c.10633G>C	c.(10633-10635)Gat>Cat	p.D3545H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3545	LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTACCTCATCAGAGCCATCT	0.413000										TSP Lung(27;0.18)			3	89					0	0	0.004672	0	0
MYH7B	57644	broad.mit.edu	37	20	33578868	33578868	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:33578868C>A	ENST00000262873.7	+	22	2345	c.2253C>A	c.(2251-2253)atC>atA	p.I751I		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	709	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGAGGGGATCCGGATCTGCC	0.632000													73	86					8.07507e-42	1.2155e-41	0.003610	1	0
CXADR	1525	broad.mit.edu	37	21	18937929	18937929	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:18937929G>T	ENST00000284878.7	+	7	1765	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	CXADR_ENST00000400169.1_Splice_Site_p.K339_splice|CXADR_ENST00000306618.10_Missense_Mutation_p.K298N|CXADR_ENST00000400166.1_Missense_Mutation_p.R252M|CXADR_ENST00000400165.1_Missense_Mutation_p.R200M	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	339					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CACCTGCTAAGGTAGCTGCCC	0.478000													20	152					8.34094e-07	9.03376e-07	0.008871	1	0
STAM	8027	broad.mit.edu	37	10	17726723	17726723	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:17726723C>A	ENST00000377524.3	+	3	390	c.175C>A	c.(175-177)Cct>Act	p.P59T	STAM_ENST00000540523.1_Intron	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	59	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CCACAAAGATCCTCACGTTGC	0.373000													10	97					0.000978159	0.00100829	0.010729	1	0
MAGEA10	4109	broad.mit.edu	37	X	151303180	151303180	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:151303180C>T	ENST00000370323.4	-	4	1229	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.E305K	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	305	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTAATTTCAGCATGAGCC	0.502000													15	222					0	0	0.003163	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881688	228881688	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:228881688C>G	ENST00000392056.3	-	7	3928	c.3882G>C	c.(3880-3882)cgG>cgC	p.R1294R	SPHKAP_ENST00000344657.5_Silent_p.R1294R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1294						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCCACCTCTCCGATACAAGC	0.498000													4	165					0	0	0.000602	0	0
MED12	9968	broad.mit.edu	37	X	70341631	70341631	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:70341631C>T	ENST00000333646.6	+	7	1265	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	MED12_ENST00000374102.1_Missense_Mutation_p.R356W|MED12_ENST00000374080.3_Missense_Mutation_p.R356W	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	356					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCCTCAGCACCGGCCCCTGGT	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						33	46					0	0	0.012213	0	0
BCCIP	56647	broad.mit.edu	37	10	127512263	127512263	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:127512263A>G	ENST00000299130.3	+	1	149	c.137A>G	c.(136-138)aAg>aGg	p.K46R	BCCIP_ENST00000429863.2_Missense_Mutation_p.K46R|BCCIP_ENST00000368759.5_Missense_Mutation_p.K46R|BCCIP_ENST00000278100.6_Missense_Mutation_p.K46R	NM_078469.2	NP_510869.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	46					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				gacaaggaaaaggatgaagag	0.512000													3	132					0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	215821958	215821958	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:215821958G>C	ENST00000366943.2	-	66	14880	c.14494C>G	c.(14494-14496)Ctg>Gtg	p.L4832V	USH2A_ENST00000307340.3_Missense_Mutation_p.L4832V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4832	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAGAGGACAGTCCTGAGGGT	0.567000										HNSCC(13;0.011)			38	78					0	0	0.004289	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228599	228228599	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:228228599G>A	ENST00000304568.3	-	4	568	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	177						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CTTCAGAATCGAAGTGGAAAC	0.438000													7	174					0	0	0.003080	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229520	140229520	+	Silent	SNP	G	G	A	rs146628059		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:140229520G>A	ENST00000378122.3	+	1	2164	c.1440G>A	c.(1438-1440)cgG>cgA	p.R480R	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.R480R|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTGCGCGGGACGCTGACG	0.652000													56	157					0	0	0.003610	0	0
ATG2B	55102	broad.mit.edu	37	14	96752139	96752139	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:96752139C>G	ENST00000359933.4	-	42	7083	c.6190G>C	c.(6190-6192)Gat>Cat	p.D2064H		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2064										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGCCGGACATCTGGCCTAATT	0.537000													20	74					0	0	0.008871	0	0
CASKIN1	57524	broad.mit.edu	37	16	2239047	2239047	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:2239047C>T	ENST00000343516.6	-	6	690	c.598G>A	c.(598-600)Ggc>Agc	p.G200S		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	200					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						TCGATGTGGCCGTTTTTAGCT	0.652000													29	114					0	0	0.008361	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554876	135554876	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:135554876G>C	ENST00000372146.4	+	2	2434	c.1870G>C	c.(1870-1872)Gaa>Caa	p.E624Q		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	624					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ACAGCAGGAAGAAGGCACTTC	0.537000													77	131					0	0	0.003610	0	0
TRRAP	8295	broad.mit.edu	37	7	98582624	98582624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:98582624G>T	ENST00000359863.4	+	61	9567	c.9358G>T	c.(9358-9360)Gaa>Taa	p.E3120*	TRRAP_ENST00000355540.3_Nonsense_Mutation_p.E3091*|TRRAP_ENST00000446306.3_Nonsense_Mutation_p.E3091*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3120	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GATGACAGCCGAATTTTATGC	0.299000													34	66					8.16277e-20	1.04935e-19	0.006999	1	0
RASA4CP	401331	broad.mit.edu	37	7	44073792	44073792	+	RNA	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:44073792T>C	ENST00000446874.1	-	0	320																											CTCTTTTTGGTGGCAGCAGCT	0.622000													59	40					0	0	0.003610	0	0
PCK1	5105	broad.mit.edu	37	20	56139383	56139383	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:56139383G>T	ENST00000319441.4	+	7	1284	c.1120G>T	c.(1120-1122)Gat>Tat	p.D374Y	PCK1_ENST00000535860.1_Missense_Mutation_p.D242Y|PCK1_ENST00000543666.1_Missense_Mutation_p.D57Y	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	374					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGAAGGCATTGATGAGCCGCT	0.557000													67	53					6.75472e-32	9.64686e-32	0.003610	1	0
CEACAM20	125931	broad.mit.edu	37	19	45028255	45028255	+	RNA	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:45028255G>T	ENST00000454753.1	-	0	514							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGCTCTATGGCAGTGCCTGG	0.517000													44	37					1.8453e-21	2.41549e-21	0.010771	1	0
CREBBP	1387	broad.mit.edu	37	16	3790432	3790432	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:3790432C>G	ENST00000262367.5	-	24	4910	c.4101G>C	c.(4099-4101)aaG>aaC	p.K1367N	CREBBP_ENST00000382070.3_Missense_Mutation_p.K1329N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1367	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCTCCACCGTCTTGTCTGAGC	0.592000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						15	92					0	0	0.006122	0	0
PER1	5187	broad.mit.edu	37	17	8044469	8044469	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:8044469G>C	ENST00000317276.4	-	23	4027	c.3790C>G	c.(3790-3792)Cag>Gag	p.Q1264E	PER1_ENST00000581082.1_Missense_Mutation_p.Q1241E	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1264	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCCAAGTCCTGAGAGCTTGAA	0.622000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					72	265					0	0	0.003610	0	0
MBD5	55777	broad.mit.edu	37	2	149243347	149243347	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:149243347A>G	ENST00000407073.1	+	11	3879	c.2882A>G	c.(2881-2883)cAt>cGt	p.H961R	MBD5_ENST00000404807.1_Missense_Mutation_p.H1194R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	961						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTGAGTAACCATCAACTGACT	0.383000													6	51					0	0	0.001168	0	0
DGKG	1608	broad.mit.edu	37	3	186038239	186038239	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:186038239C>T	ENST00000265022.3	-	2	549	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	DGKG_ENST00000344484.4_Missense_Mutation_p.E4K|DGKG_ENST00000382164.4_Missense_Mutation_p.E4K|DGKG_ENST00000544847.1_Missense_Mutation_p.E4K	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	4					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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACCCACCGTTCTTCACCCATT	0.483000													14	100					0	0	0.004007	0	0
CSAG1	158511	broad.mit.edu	37	X	151908883	151908883	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:151908883G>A	ENST00000370291.2	+	4	402	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	CSAG1_ENST00000370287.3_Missense_Mutation_p.R41Q|CSAG1_ENST00000452779.2_Missense_Mutation_p.R41Q			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	41										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAACCACGAGCCTCCAGC	0.562000													41	347					0	0	0.007835	0	0
YEATS4	8089	broad.mit.edu	37	12	69759413	69759413	+	Splice_Site	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:69759413G>C	ENST00000247843.2	+	3	442	c.171_splice	c.e3-1	p.D58_splice	YEATS4_ENST00000548020.1_Intron	NM_006530.2	NP_006521.1	O95619	YETS4_HUMAN	YEATS domain containing 4	58	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			TATATTTTAGGATATGTCAGC	0.269000													54	37					0	0	0.003610	0	0
KRT3	3850	broad.mit.edu	37	12	53186142	53186142	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:53186142G>C	ENST00000417996.2	-	5	1143	c.1069C>G	c.(1069-1071)Ctg>Gtg	p.L357V	KRT3_ENST00000309505.3_Missense_Mutation_p.L357V	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	357	Linker 12.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCCATGGACAGCACCACAGAT	0.512000													29	29					0	0	0.005524	0	0
KIF17	57576	broad.mit.edu	37	1	21039953	21039953	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:21039953C>T	ENST00000247986.2	-	3	784	c.474G>A	c.(472-474)aaG>aaA	p.K158K	KIF17_ENST00000400463.3_Silent_p.K158K|KIF17_ENST00000375044.1_Silent_p.K58K			Q9P2E2	KIF17_HUMAN	kinesin family member 17	158	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCACCTCCAGCTTCTGCTTGG	0.582000													25	14					0	0	0.006320	0	0
LAMB3	3914	broad.mit.edu	37	1	209797302	209797302	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:209797302C>T	ENST00000391911.1	-	14	2409	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K	LAMB3_ENST00000356082.4_Missense_Mutation_p.E674K|LAMB3_ENST00000367030.3_Missense_Mutation_p.E674K	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	674	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GACAACGTCTCCTCCTCCAGG	0.507000													37	93					0	0	0.006230	0	0
SNAI1	6615	broad.mit.edu	37	20	48600685	48600685	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:48600685C>T	ENST00000244050.2	+	2	468	c.407C>T	c.(406-408)cCc>cTc	p.P136L		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	136	Required for FBXL14-triggered degradation.				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GGCCAAGTGCCCAAGCAGCTG	0.602000													34	134					0	0	0.002836	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723888	140723888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:140723888C>A	ENST00000253812.6	+	1	288	c.288C>A	c.(286-288)tgC>tgA	p.C96*	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTCTGCGCTCAGATCC	0.448000													36	74					4.65686e-17	5.82253e-17	0.003755	1	0
FUK	197258	broad.mit.edu	37	16	70497154	70497154	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:70497154A>T	ENST00000288078.6	+	2	293	c.61A>T	c.(61-63)Agt>Tgt	p.S21C	FUK_ENST00000428974.2_Missense_Mutation_p.S21C|FUK_ENST00000378912.2_Missense_Mutation_p.S21C|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	21						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GTACAAGGACAGTGTCCAGGT	0.572000													46	33					0	0	0.003610	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797877	31797877	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:31797877G>A	ENST00000390690.2	-	1	409	c.354C>T	c.(352-354)tcC>tcT	p.S118S		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	118						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGCCCAGTGAGGAGCAGCTCC	0.488000													36	19					0	0	0.004878	0	0
HSF5	124535	broad.mit.edu	37	17	56557394	56557394	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:56557394G>A	ENST00000323777.3	-	2	894	c.785C>T	c.(784-786)cCa>cTa	p.P262L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	262						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P262L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACCTCAGTTGGAAACCTCTG	0.463000													12	281					0	0	0.003163	0	0
CPZ	8532	broad.mit.edu	37	4	8603114	8603114	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:8603114G>C	ENST00000360986.4	+	3	560	c.386G>C	c.(385-387)tGc>tCc	p.C129S	CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.C118S	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	129	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGGGAGGTCTGCCAGCCCGCC	0.687000													6	14					0	0	0.001168	0	0
NFATC2	4773	broad.mit.edu	37	20	50007939	50007939	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:50007939C>A	ENST00000396009.3	-	10	2991	c.2772G>T	c.(2770-2772)caG>caT	p.Q924H	NFATC2_ENST00000414705.1_3'UTR|NFATC2_ENST00000371564.3_3'UTR	NM_001258292.1|NM_001258295.1|NM_001258297.1|NM_173091.3	NP_001245221.1|NP_001245224.1|NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	924					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TCTTTTACGTCTGATTTCTGG	0.493000													32	200					2.20262e-25	3.00875e-25	0.002836	1	0
IL2RA	3559	broad.mit.edu	37	10	6063568	6063568	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:6063568G>T	ENST00000379959.3	-	4	629	c.456C>A	c.(454-456)tgC>tgA	p.C152*	IL2RA_ENST00000379954.1_Intron|IL2RA_ENST00000256876.6_Nonsense_Mutation_p.C152*	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	152	Sushi 2.				cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ATCCCTGGACGCACTGATAAT	0.527000													60	160					5.73332e-34	8.30628e-34	0.003610	1	0
RYR1	6261	broad.mit.edu	37	19	39052027	39052027	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:39052027C>G	ENST00000355481.4	+	89	12673	c.12542C>G	c.(12541-12543)tCa>tGa	p.S4181*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.S4181*|RYR1_ENST00000359596.3_Nonsense_Mutation_p.S4186*	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4186					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ATGGGCGCGTCACGCCGCATC	0.652000													18	198					0	0	0.006122	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905556	144905556	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:144905556T>G	ENST00000370490.1	+	1	5868	c.1613T>G	c.(1612-1614)aTg>aGg	p.M538R	SLITRK2_ENST00000447897.2_Missense_Mutation_p.M538R|SLITRK2_ENST00000428560.2_Missense_Mutation_p.M538R|SLITRK2_ENST00000413937.2_Missense_Mutation_p.M538R|SLITRK2_ENST00000434188.2_Missense_Mutation_p.M538R			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	538	LRRCT 2.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGACATCATGGGGCTGAAA	0.493000													20	109					0	0	0.010504	0	0
SERPINB5	5268	broad.mit.edu	37	18	61154262	61154262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:61154262C>A	ENST00000382771.4	+	3	544	c.252C>A	c.(250-252)taC>taA	p.Y84*	SERPINB5_ENST00000489441.1_Nonsense_Mutation_p.Y84*	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	84					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GTTCCTTTTACTCACTGAAAC	0.338000													47	29					1.00776e-21	1.3226e-21	0.003610	1	0
GLYR1	84656	broad.mit.edu	37	16	4862237	4862237	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:4862237T>A	ENST00000321919.9	-	13	1208	c.1132A>T	c.(1132-1134)Agg>Tgg	p.R378W	GLYR1_ENST00000436648.5_Missense_Mutation_p.R297W|GLYR1_ENST00000591451.1_Missense_Mutation_p.R372W|GLYR1_ENST00000381983.3_Missense_Mutation_p.R361W	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	378					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CGCCCCCCCCTGGACACAATC	0.582000													11	35					0	0	0.001368	0	0
MYBPC1	4604	broad.mit.edu	37	12	102074275	102074275	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:102074275C>A	ENST00000549145.1	+	29	3519	c.3419C>A	c.(3418-3420)aCa>aAa	p.T1140K	MYBPC1_ENST00000361466.2_Missense_Mutation_p.T1134K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.T1127K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.T1090K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.T1127K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.T1096K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.T1109K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.T1097K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.T1127K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.T1083K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.T1109K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.T1010K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.T1127K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.T1095K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.T1134K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	1127	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GACCTTGGGACAGTGGAGATT	0.433000													49	40					1.48341e-19	1.89725e-19	0.003610	1	0
ITIH2	3698	broad.mit.edu	37	10	7759635	7759635	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:7759635C>A	ENST00000358415.4	+	6	680	c.514C>A	c.(514-516)Ctc>Atc	p.L172I	ITIH2_ENST00000379587.4_Missense_Mutation_p.L161I|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	172	VIT.				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						AGTAAATGTCCTCCCAGGAGC	0.493000													72	267					1.79293e-35	2.62024e-35	0.003610	1	0
NKX2-5	1482	broad.mit.edu	37	5	172660066	172660066	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:172660066G>T	ENST00000329198.4	-	2	754	c.481C>A	c.(481-483)Cgg>Agg	p.R161R	NKX2-5_ENST00000424406.2_3'UTR|NKX2-5_ENST00000521848.1_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	161			R -> P (in CHNG5; exhibits a significant functional impairment with reduction of transactivation properties and dominant- negative effect which was associated with reduced DNA binding).		adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GACAGGTACCGCTGCTGCTTG	0.672000													11	13					7.03913e-09	7.82645e-09	0.001368	1	0
XPNPEP2	7512	broad.mit.edu	37	X	128884515	128884515	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:128884515G>C	ENST00000371106.3	+	8	901	c.709G>C	c.(709-711)Gtc>Ctc	p.V237L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	237					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CCCGACTGCCGTCCTTCTGTC	0.597000													4	12					0	0	0.009096	0	0
FKBP14	55033	broad.mit.edu	37	7	30058635	30058635	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:30058635C>T	ENST00000222803.5	-	3	629	c.454G>A	c.(454-456)Gac>Aac	p.D152N	AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	152	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						AGTTTCCAGTCATCATTAAGA	0.363000													16	133					0	0	0.003163	0	0
EGLN1	54583	broad.mit.edu	37	1	231557539	231557539	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:231557539G>A	ENST00000366641.3	-	1	3251	c.96C>T	c.(94-96)cgC>cgT	p.R32R		NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	32					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	AGCGGCTGCAGCGCAGCAGGT	0.692000													5	17					0	0	0.001168	0	0
CCDC93	54520	broad.mit.edu	37	2	118706927	118706927	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:118706927G>A	ENST00000376300.2	-	14	1250	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	CCDC93_ENST00000319432.5_Silent_p.L370L	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	371										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTATCTTCTCGAGGGCTGCTT	0.433000													7	145					0	0	0.003080	0	0
KIF13A	63971	broad.mit.edu	37	6	17764912	17764912	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:17764912G>C	ENST00000378814.5	-	37	4702	c.4703C>G	c.(4702-4704)tCt>tGt	p.S1568C	KIF13A_ENST00000378843.2_Missense_Mutation_p.S1568C|KIF13A_ENST00000259711.6_Missense_Mutation_p.S1616C|KIF13A_ENST00000378826.2_Missense_Mutation_p.S1581C|KIF13A_ENST00000378816.5_Missense_Mutation_p.S1581C	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1616					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTGTCACTAGAAGGGACCAC	0.547000													7	50					0	0	0.001984	0	0
EFCAB5	374786	broad.mit.edu	37	17	28405430	28405430	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:28405430C>A	ENST00000394835.3	+	15	3127	c.2935C>A	c.(2935-2937)Cgg>Agg	p.R979R	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.R855R	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	979							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTGCCAGGCGGAAATGGCT	0.493000													56	114					1.11015e-26	1.53103e-26	0.003610	1	0
ZNF670	93474	broad.mit.edu	37	1	247201040	247201040	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:247201040C>A	ENST00000366503.2	-	4	1039	c.881G>T	c.(880-882)aGa>aTa	p.R294I		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			TCTGAGGACTCTGGAACATCT	0.403000													62	136					2.75338e-15	3.3671e-15	0.003610	1	0
RUNDC3A	10900	broad.mit.edu	37	17	42390611	42390611	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:42390611C>A	ENST00000426726.3	+	3	637	c.363C>A	c.(361-363)gcC>gcA	p.A121A	RUNDC3A_ENST00000590941.1_Silent_p.A116A|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Silent_p.A121A	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	121	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCAGCACAGCCCGGGCCAAGG	0.602000													23	58					7.92952e-12	9.22508e-12	0.003954	1	0
CMTM1	113540	broad.mit.edu	37	16	66612833	66612833	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:66612833G>A	ENST00000379500.2	+	4	857	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	CKLF-CMTM1_ENST00000527729.1_Missense_Mutation_p.E93K|CMTM1_ENST00000336328.6_Missense_Mutation_p.E94K|CMTM1_ENST00000332695.7_Missense_Mutation_p.E100K|CMTM1_ENST00000328020.6_3'UTR|CMTM1_ENST00000533953.1_Missense_Mutation_p.E216K|CMTM1_ENST00000533666.1_3'UTR|CMTM1_ENST00000531885.1_3'UTR|CMTM1_ENST00000528324.1_3'UTR|CMTM1_ENST00000457188.2_Missense_Mutation_p.E147K	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	147					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		AGTCGAAGTTGAAAGGAAGCT	0.607000													35	168					0	0	0.004289	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													5	81					0	0	0.000602	0	0
ZNF716	441234	broad.mit.edu	37	7	57522870	57522870	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:57522870C>A	ENST00000420713.1	+	3	370	c.258C>A	c.(256-258)caC>caA	p.H86Q		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TAGCCAAACACCCAGGTAGGT	0.443000													105	171					1.97301e-41	2.95658e-41	0.003610	1	0
DUSP16	80824	broad.mit.edu	37	12	12629939	12629939	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:12629939G>A	ENST00000228862.2	-	7	2457	c.1826C>T	c.(1825-1827)tCg>tTg	p.S609L	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	609					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GCTCCGCCGCGAGTCAGCTCT	0.542000													12	216					0	0	0.010729	0	0
RNF122	79845	broad.mit.edu	37	8	33416262	33416262	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:33416262C>A	ENST00000256257.1	-	2	454	c.53G>T	c.(52-54)aGc>aTc	p.S18I		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	18						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CTTGTTGGTGCTAACCAGTCC	0.493000													13	36					9.31168e-06	9.84098e-06	0.001855	1	0
UNC45B	146862	broad.mit.edu	37	17	33475423	33475423	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:33475423G>T	ENST00000268876.5	+	2	238	c.141G>T	c.(139-141)cgG>cgT	p.R47R	UNC45B_ENST00000433649.1_Silent_p.R47R|UNC45B_ENST00000378449.1_Silent_p.R47R|UNC45B_ENST00000394570.2_Silent_p.R47R|UNC45B_ENST00000591048.1_Silent_p.R47R	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	47					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CGCTTTATCGGAACCGGGCAG	0.637000													23	56					5.45024e-15	6.61674e-15	0.003330	1	0
SIM2	6493	broad.mit.edu	37	21	38115717	38115717	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:38115717C>A	ENST00000290399.6	+	9	1641	c.1028C>A	c.(1027-1029)tCc>tAc	p.S343Y	SIM2_ENST00000430056.3_Missense_Mutation_p.S343Y	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	343	Single-minded C-terminal.				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						CTTCAGCTGTCCCTGGAGCAG	0.567000													35	207					3.76114e-14	4.50081e-14	0.004289	1	0
MIPEP	4285	broad.mit.edu	37	13	24415543	24415543	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:24415543C>A	ENST00000382172.3	-	11	1289	c.1191G>T	c.(1189-1191)ctG>ctT	p.L397L		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	397					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AAATCCCCAACAGTCTGTTAA	0.473000													19	28					1.64113e-05	1.72173e-05	0.010504	1	0
NRP2	8828	broad.mit.edu	37	2	206610568	206610568	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:206610568G>A	ENST00000360409.3	+	10	2531	c.1740G>A	c.(1738-1740)ccG>ccA	p.P580P	NRP2_ENST00000412873.2_Silent_p.P580P|NRP2_ENST00000357118.4_Silent_p.P580P|NRP2_ENST00000540841.1_Silent_p.P580P|NRP2_ENST00000272849.3_Silent_p.P580P|NRP2_ENST00000357785.5_Silent_p.P580P|NRP2_ENST00000540178.1_Silent_p.P580P	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	580	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGTGGTCGCCGGCGGGGATTG	0.577000													54	50					0	0	0.003610	0	0
BCL9L	283149	broad.mit.edu	37	11	118773142	118773142	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:118773142C>A	ENST00000334801.3	-	6	2274	c.1310G>T	c.(1309-1311)gGa>gTa	p.G437V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	437	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTCACCCGCTCCTCCTGGGGG	0.682000													22	35					1.87028e-06	2.00402e-06	0.012319	1	0
ELOVL4	6785	broad.mit.edu	37	6	80634699	80634699	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:80634699C>T	ENST00000369816.4	-	3	639	c.339G>A	c.(337-339)gtG>gtA	p.V113V		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	113					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TAGAATAATCCACACTCTGGC	0.308000													34	30					0	0	0.006999	0	0
LIPI	149998	broad.mit.edu	37	21	15554145	15554145	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:15554145G>A	ENST00000344577.2	-	4	665	c.640C>T	c.(640-642)Cca>Tca	p.P214S	LIPI_ENST00000536861.1_Missense_Mutation_p.P193S	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	193					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CTATATGGTGGTTTTCTGGAG	0.403000													6	82					0	0	0.004482	0	0
SERPINB9	5272	broad.mit.edu	37	6	2892192	2892192	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:2892192G>C	ENST00000380698.4	-	6	687	c.598C>G	c.(598-600)Cag>Gag	p.Q200E		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	200					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GTGGCCTCCTGATACATCATC	0.567000													32	163					0	0	0.003755	0	0
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													3	157					0	0	0.009096	0	0
TMEM8C	389827	broad.mit.edu	37	9	136384097	136384097	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:136384097C>A	ENST00000339996.3	-	3	399	c.298G>T	c.(298-300)Ggc>Tgc	p.G100C	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	100						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GTCAGGACGCCGAACATCACA	0.607000													123	48					1.51339e-41	2.27121e-41	0.003610	1	0
BACH2	60468	broad.mit.edu	37	6	90642233	90642233	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:90642233C>G	ENST00000257749.4	-	9	3127	c.2420G>C	c.(2419-2421)aGa>aCa	p.R807T	BACH2_ENST00000537989.1_Missense_Mutation_p.R807T|BACH2_ENST00000343122.3_Missense_Mutation_p.R807T	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	807						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGGAGGTCCTCTCTCTGAGAA	0.567000													12	308					0	0	0.001368	0	0
ITGAM	3684	broad.mit.edu	37	16	31336590	31336590	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:31336590C>A	ENST00000544665.3	+	20	2444	c.2373C>A	c.(2371-2373)gaC>gaA	p.D791E	ITGAM_ENST00000287497.8_Missense_Mutation_p.D790E	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	790					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ACAGCCTGGACTGCCTCGTGG	0.597000													10	48					1.58986e-06	1.71269e-06	0.008291	1	0
MDN1	23195	broad.mit.edu	37	6	90394655	90394655	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:90394655G>C	ENST00000369393.3	-	71	11884	c.11769C>G	c.(11767-11769)ttC>ttG	p.F3923L	MDN1_ENST00000428876.1_Missense_Mutation_p.F3923L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3923					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCGGTCAAAGAATTGCTTGT	0.403000													5	39					0	0	0.000602	0	0
VWA7	80737	broad.mit.edu	37	6	31743834	31743834	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:31743834C>T	ENST00000375686.3	-	3	657	c.420G>A	c.(418-420)ctG>ctA	p.L140L	VWA7_ENST00000447450.1_Silent_p.L140L|VWA7_ENST00000375688.4_Silent_p.L140L|VWA7_ENST00000467576.1_Intron	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	140						extracellular region											GAGCCCCTACCAGGCGCGCGC	0.657000													26	189					0	0	0.003954	0	0
SP110	3431	broad.mit.edu	37	2	231067329	231067329	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:231067329C>T	ENST00000258381.6	-	9	1091	c.1014G>A	c.(1012-1014)gcG>gcA	p.A338A	SP110_ENST00000258382.5_Silent_p.A338A|SP110_ENST00000392048.3_Silent_p.A336A|SP110_ENST00000358662.4_Silent_p.A338A|SP110_ENST00000540870.1_Silent_p.A344A|SP110_ENST00000338556.3_Intron	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	338					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATTCAGTTCTCGCCTTTTGGG	0.493000													34	112					0	0	0.012213	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618415	37618415	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr21:37618415G>A	ENST00000399151.3	+	19	4222	c.4137G>A	c.(4135-4137)caG>caA	p.Q1379Q		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1379					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTTGCTGCAGAGGTGCAAAG	0.572000													6	138					0	0	0.001984	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119801	38119801	+	Missense_Mutation	SNP	A	A	G	rs71317064		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:38119801A>G	ENST00000406386.3	+	7	1493	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	413					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.K413R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAATCCCAAAGCCTCCAGA	0.582000													4	140					0	0	0.009096	0	0
TRIML2	205860	broad.mit.edu	37	4	189012758	189012758	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:189012758G>C	ENST00000512729.1	-	7	1307	c.933C>G	c.(931-933)ctC>ctG	p.L311L	TRIML2_ENST00000326754.3_Silent_p.L336L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	311	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTTCCAGGAAGAGCCTTTTCA	0.532000													39	184					0	0	0.006230	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683154	140683154	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:140683154C>G	ENST00000239451.4	-	1	458	c.279G>C	c.(277-279)agG>agC	p.R93S		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	93					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CAGCCACTTTCCTGACAAACT	0.597000													3	132					0	0	0.004672	0	0
KAT6B	23522	broad.mit.edu	37	10	76788408	76788408	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:76788408C>T	ENST00000287239.4	+	18	4315	c.3826C>T	c.(3826-3828)Ccg>Tcg	p.P1276S	KAT6B_ENST00000372725.1_Missense_Mutation_p.P984S|KAT6B_ENST00000372714.1_Missense_Mutation_p.P984S|KAT6B_ENST00000372724.1_Missense_Mutation_p.P984S|KAT6B_ENST00000372711.1_Missense_Mutation_p.P1093S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1276					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TTTGTACACCCCGCCAGAAAC	0.483000													25	111					0	0	0.003330	0	0
DLG4	1742	broad.mit.edu	37	17	7107548	7107548	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:7107548G>A	ENST00000399510.2	-	5	1101	c.249C>T	c.(247-249)gtC>gtT	p.V83V	DLG4_ENST00000485100.1_Silent_p.V40V|DLG4_ENST00000302955.6_Silent_p.V40V|DLG4_ENST00000399506.2_Silent_p.V40V	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	40	PDZ 1.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TATCTGTGTTGACAATCACTG	0.527000													15	25					0	0	0.004007	0	0
PCDH9	5101	broad.mit.edu	37	13	66879088	66879088	+	Missense_Mutation	SNP	T	T	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:66879088T>G	ENST00000544246.1	-	5	4104	c.3413A>C	c.(3412-3414)cAc>cCc	p.H1138P	PCDH9_ENST00000328454.5_Missense_Mutation_p.H1104P|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.H1104P|PCDH9_ENST00000377865.2_Missense_Mutation_p.H1138P	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1138					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATTATCAGAGTGACCCAAAAC	0.493000													45	118					0	0	0.010771	0	0
BTN2A2	10385	broad.mit.edu	37	6	26388325	26388325	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:26388325C>T	ENST00000356709.4	+	4	638	c.527C>T	c.(526-528)cCa>cTa	p.P176L	BTN2A2_ENST00000432533.2_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.P176L|BTN2A2_ENST00000352867.2_Missense_Mutation_p.P60L|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.P176L	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	176	Ig-like C2-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GGGTGGTACCCAGAGCCCCTC	0.587000													51	74					0	0	0.003610	0	0
NLRP5	126206	broad.mit.edu	37	19	56572830	56572830	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:56572830G>A	ENST00000390649.3	+	15	3539	c.3539G>A	c.(3538-3540)cGa>cAa	p.R1180Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1180						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCAAGCCCCGAGTCGTAATT	0.512000													44	102					0	0	0.013114	0	0
UBE2E2	7325	broad.mit.edu	37	3	23250330	23250330	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:23250330G>T	ENST00000396703.1	+	2	320	c.140G>T	c.(139-141)aGc>aTc	p.S47I	UBE2E2_ENST00000425792.1_Missense_Mutation_p.S47I	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	47					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						AAAATATCCAGCAAAACCGCT	0.363000													10	31					5.50884e-06	5.84659e-06	0.001368	1	0
GABRG2	2566	broad.mit.edu	37	5	161569232	161569232	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:161569232C>A	ENST00000356592.3	+	7	1292	c.832C>A	c.(832-834)Cag>Aag	p.Q278K	GABRG2_ENST00000414552.2_Missense_Mutation_p.Q318K|GABRG2_ENST00000361925.4_Missense_Mutation_p.Q278K|GABRG2_ENST00000393933.4_Missense_Mutation_p.Q183K	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	278					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTTTACCATCCAGACCTATAT	0.443000													36	134					4.46736e-08	4.91802e-08	0.005524	1	0
PADI2	11240	broad.mit.edu	37	1	17402181	17402181	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:17402181C>T	ENST00000375486.4	-	12	1511	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.G367D	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	483					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TACCTTTGTGCCGGGGATGGG	0.587000											OREG0013145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	199					0	0	0.001984	0	0
PCDH15	65217	broad.mit.edu	37	10	55617011	55617011	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:55617011T>C	ENST00000373965.2	-	29	4145	c.3751A>G	c.(3751-3753)Aat>Gat	p.N1251D	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.N1244D|PCDH15_ENST00000395433.1_Missense_Mutation_p.N1222D|PCDH15_ENST00000361849.3_Missense_Mutation_p.N1244D|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.N1173D|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_Missense_Mutation_p.N1244D|PCDH15_ENST00000395430.1_Missense_Mutation_p.N1244D|PCDH15_ENST00000409834.1_Missense_Mutation_p.N855D|PCDH15_ENST00000395445.1_Missense_Mutation_p.N1251D|PCDH15_ENST00000395432.2_Missense_Mutation_p.N1207D|PCDH15_ENST00000414778.1_Missense_Mutation_p.N1249D	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1244	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCAGCTGATTGACCACGGAG	0.353000										HNSCC(58;0.16)			16	68					0	0	0.003163	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40820147	40820147	+	Nonstop_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:40820147A>T	ENST00000293349.6	-	13	2801	c.2371T>A	c.(2371-2373)Tga>Aga	p.*791R	PLEKHH3_ENST00000591022.1_Nonstop_Mutation_p.*794R|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Nonstop_Mutation_p.*617R			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	0					signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TGGCAGGCTCAGTCCTGCAGC	0.652000													8	20					0	0	0.003080	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138199845	138199845	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:138199845G>A	ENST00000237289.4	+	7	1329	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L		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	421	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)		TCCCAAAGCTGAACTCCAAGC	0.587000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								8	96					0	0	0.004482	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572234	140572234	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:140572234G>A	ENST00000239446.4	+	1	293	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		37	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGGTGACTGAGGAAACAGA	0.507000													65	120					0	0	0.003610	0	0
AKAP8L	26993	broad.mit.edu	37	19	15508056	15508056	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:15508056C>A	ENST00000397410.4	-	12	1505	c.1441G>T	c.(1441-1443)Gca>Tca	p.A481S	AKAP8L_ENST00000595465.1_Missense_Mutation_p.A420S	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	481						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CAATGGGCTGCCTCCACCTTC	0.547000													68	32					3.45129e-13	4.08138e-13	0.003610	1	0
TTI2	80185	broad.mit.edu	37	8	33369537	33369537	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:33369537C>T	ENST00000431156.2	-	2	1213	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TTI2_ENST00000520636.1_Missense_Mutation_p.E199K|TTI2_ENST00000360742.5_Missense_Mutation_p.E199K	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	199							binding										CTCCCTTTCTCATCTTCATTT	0.483000													49	116					0	0	0.003610	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163875	161163875	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:161163875G>T	ENST00000367996.4	-	5	1826	c.1398C>A	c.(1396-1398)ccC>ccA	p.P466P		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	466	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGGCAGCACAGGGCGGCGGCA	0.652000													52	95					2.27459e-33	3.28589e-33	0.003610	1	0
PIPSL	266971	broad.mit.edu	37	10	95720628	95720628	+	RNA	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:95720628G>A	ENST00000480546.1	-	0	669					NR_002319.2																						ACACAGTACAGTCCATAGAAT	0.433000													16	156					0	0	0.008871	0	0
OR2A25	392138	broad.mit.edu	37	7	143771609	143771609	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:143771609G>C	ENST00000408898.2	+	1	335	c.297G>C	c.(295-297)caG>caC	p.Q99H		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GCATGACCCAGATGTTTCTGT	0.542000													30	77					0	0	0.008361	0	0
KRT75	9119	broad.mit.edu	37	12	52827609	52827609	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:52827609G>A	ENST00000252245.5	-	1	700	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	160	Coil 1A.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGAAGGAGGCGAACTTATTGT	0.562000													28	190					0	0	0.010818	0	0
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)		ATGGCGCGGACGCGGGTGCCG	0.617000		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)			57	32					4.88482e-21	6.36104e-21	0.003610	1	0
CALHM1	255022	broad.mit.edu	37	10	105215366	105215366	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:105215366C>A	ENST00000329905.5	-	2	830	c.694G>T	c.(694-696)Gac>Tac	p.D232Y	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	232						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CACGTCTCGTCGAAGAGCTTG	0.602000													53	34					5.76465e-13	6.77718e-13	0.003610	1	0
ABCA4	24	broad.mit.edu	37	1	94467521	94467521	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:94467521C>A	ENST00000370225.3	-	45	6261	c.6175G>T	c.(6175-6177)Ggc>Tgc	p.G2059C	ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.G329C|ABCA4_ENST00000535881.1_Missense_Mutation_p.G178C	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2059	ABC transporter 2.		G -> A.		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)		ACAGTCAGGCCCAGGCTCTTA	0.552000													26	61					1.74197e-06	1.87253e-06	0.006320	1	0
ADAM10	102	broad.mit.edu	37	15	58974496	58974496	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:58974496A>T	ENST00000260408.3	-	3	667	c.224T>A	c.(223-225)aTg>aAg	p.M75K	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	75					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		GTCCCTCTTCATTCGTAGGTT	0.294000													26	50					0	0	0.012213	0	0
TYR	7299	broad.mit.edu	37	11	88961012	88961012	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:88961012G>T	ENST00000263321.5	+	3	1560	c.1058G>T	c.(1057-1059)gGg>gTg	p.G353V		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	353					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCACTTACTGGGATAGCGGAT	0.373000													27	54					2.41591e-17	3.03197e-17	0.004656	1	0
GBP5	115362	broad.mit.edu	37	1	89728468	89728468	+	Splice_Site	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:89728468C>A	ENST00000343435.5	-	10	1899	c.1362_splice	c.e10-1	p.A455_splice	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Splice_Site_p.A455_splice|GBP5_ENST00000481145.1_5'UTR	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	455						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ACTTCTTCAGCCTAGCAACCC	0.408000													10	60					0.000673444	0.000695615	0.008291	1	0
PEG3	5178	broad.mit.edu	37	19	57328907	57328907	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:57328907C>A	ENST00000326441.9	-	10	1266	c.903G>T	c.(901-903)cgG>cgT	p.R301R	PEG3_ENST00000423103.2_Silent_p.R301R|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.R175R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.R177R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	301					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)		AAATCCCCCGCCGGTGGGTTG	0.453000													96	147					2.19198e-39	3.24115e-39	0.003610	1	0
MMP2	4313	broad.mit.edu	37	16	55519238	55519238	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:55519238G>T	ENST00000219070.4	+	4	1066	c.557G>T	c.(556-558)gGt>gTt	p.G186V	MMP2_ENST00000543485.1_Missense_Mutation_p.G110V|MMP2_ENST00000570308.1_Missense_Mutation_p.G110V|MMP2_ENST00000437642.2_Missense_Mutation_p.G136V	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	186	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.G186fs*16(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CCCTTTGACGGTAAGGACGGA	0.562000													79	93					2.84431e-33	4.103e-33	0.003610	1	0
COBL	23242	broad.mit.edu	37	7	51258687	51258687	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:51258687G>A	ENST00000395542.2	-	4	729	c.545C>T	c.(544-546)cCa>cTa	p.P182L	COBL_ENST00000395540.2_Missense_Mutation_p.P182L|COBL_ENST00000265136.7_Missense_Mutation_p.P182L|COBL_ENST00000441453.1_Missense_Mutation_p.P182L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	182										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACAAATGACTGGGAGAATATT	0.527000													12	132					0	0	0.010729	0	0
NLRP10	338322	broad.mit.edu	37	11	7982771	7982771	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:7982771G>T	ENST00000328600.2	-	2	549	c.388C>A	c.(388-390)Ccc>Acc	p.P130T		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	130							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTGAGCTGGGCTTGGCCACC	0.562000													47	91					1.23103e-26	1.69541e-26	0.013114	1	0
B4GALNT4	338707	broad.mit.edu	37	11	379894	379894	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:379894G>A	ENST00000329962.6	+	16	2517	c.2517G>A	c.(2515-2517)caG>caA	p.Q839Q		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	839						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGTGGCACAGTTCCTGGCGG	0.657000													14	41					0	0	0.004007	0	0
MR1	3140	broad.mit.edu	37	1	181018349	181018349	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:181018349G>T	ENST00000367580.5	+	2	234	c.229G>T	c.(229-231)Gcg>Tcg	p.A77S	MR1_ENST00000367579.3_Missense_Mutation_p.A77S|MR1_ENST00000282990.6_Missense_Mutation_p.A77S|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Missense_Mutation_p.A77S	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	77	Alpha-1.|Ligand-binding.		A -> V (in dbSNP:rs3897434).		antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						AGAGAACCTCGCGCCTGATCA	0.562000													32	44					8.88839e-20	1.14117e-19	0.010818	1	0
AFTPH	54812	broad.mit.edu	37	2	64778637	64778637	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:64778637C>G	ENST00000422803.1	+	2	343	c.29C>G	c.(28-30)tCt>tGt	p.S10C	AFTPH_ENST00000409933.1_Missense_Mutation_p.S10C|AFTPH_ENST00000238856.4_Missense_Mutation_p.S10C|AFTPH_ENST00000238855.7_Missense_Mutation_p.S10C			Q6ULP2	AFTIN_HUMAN	aftiphilin	10					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CGAATGTACTCTTCATCCCCA	0.393000													16	182					0	0	0.004007	0	0
MOGAT2	80168	broad.mit.edu	37	11	75438495	75438495	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:75438495G>C	ENST00000526712.1	+	2	813	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	MOGAT2_ENST00000198801.5_Missense_Mutation_p.E96Q			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	96					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CAAGACTGCTGAGCTGGACCC	0.622000													6	69					0	0	0.004482	0	0
GLI2	2736	broad.mit.edu	37	2	121747580	121747580	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:121747580G>A	ENST00000452319.1	+	14	4150	c.4090G>A	c.(4090-4092)Gca>Aca	p.A1364T	GLI2_ENST00000361492.4_Missense_Mutation_p.A1364T|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1364					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGTGGCTACAGCAGGCTTTGG	0.697000													7	31					0	0	0.003080	0	0
IQCE	23288	broad.mit.edu	37	7	2608628	2608628	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:2608628C>T	ENST00000402050.2	+	3	309	c.125C>T	c.(124-126)tCg>tTg	p.S42L	IQCE_ENST00000404984.1_Intron|IQCE_ENST00000438376.2_Missense_Mutation_p.S26L|IQCE_ENST00000325979.7_Intron	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	42										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCACCCACATCGCCAAGTAAG	0.488000													47	44					0	0	0.003610	0	0
CHN1	1123	broad.mit.edu	37	2	175779854	175779854	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:175779854A>C	ENST00000409900.3	-	5	505	c.192T>G	c.(190-192)atT>atG	p.I64M	CHN1_ENST00000409156.3_Missense_Mutation_p.I64M|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	64	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CCTCAGCCACAATCAAGAGCT	0.478000			T	TAF15	extraskeletal myxoid chondrosarcoma								13	36					0	0	0.001368	0	0
LRIT2	340745	broad.mit.edu	37	10	85984343	85984343	+	Missense_Mutation	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:85984343T>C	ENST00000372113.4	-	2	643	c.638A>G	c.(637-639)cAg>cGg	p.Q213R	LRIT2_ENST00000538192.1_Missense_Mutation_p.Q213R	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	213	LRRCT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CTTGACAAACTGGACAAGCCC	0.562000													8	110					0	0	0.002450	0	0
KCNN3	3782	broad.mit.edu	37	1	154744815	154744815	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:154744815G>A	ENST00000271915.3	-	3	1399	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	KCNN3_ENST00000358505.2_Missense_Mutation_p.R49C|KCNN3_ENST00000361147.4_Missense_Mutation_p.R57C	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	367						integral to membrane	calmodulin binding	p.R362C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TACAGGATGCGCTCGTAGGTC	0.587000													5	53					0	0	0.000602	0	0
NR1H2	7376	broad.mit.edu	37	19	50881788	50881788	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:50881788C>G	ENST00000253727.5	+	6	717	c.482C>G	c.(481-483)tCt>tGt	p.S161C	NR1H2_ENST00000593926.1_Missense_Mutation_p.S161C|NR1H2_ENST00000599105.1_Missense_Mutation_p.S161C|NR1H2_ENST00000598168.1_Missense_Mutation_p.S161C|NR1H2_ENST00000411902.2_Missense_Mutation_p.S64C|NR1H2_ENST00000542413.1_5'UTR	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	161					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGCGTCCTTTCTGAAGAACAG	0.652000													28	82					0	0	0.009535	0	0
OR5I1	10798	broad.mit.edu	37	11	55703105	55703105	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55703105G>T	ENST00000301532.3	-	1	771	c.772C>A	c.(772-774)Ctc>Atc	p.L258I		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAAATAAAGAGGAGAGTCCCT	0.443000													10	36					0.00010058	0.000104971	0.001368	1	0
ANKRD1	27063	broad.mit.edu	37	10	92679928	92679928	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:92679928C>T	ENST00000371697.3	-	2	453	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	69					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				GCTCTCACCTCTGCCTCTCGT	0.502000													56	192					0	0	0.003610	0	0
LRRC10	376132	broad.mit.edu	37	12	70003877	70003877	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:70003877C>T	ENST00000361484.3	-	1	1065	c.742G>A	c.(742-744)Gac>Aac	p.D248N		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	248						nucleus		p.D248N(1)		large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTTCTAGGGTCGGGCTCTGGC	0.587000													24	57					0	0	0.003330	0	0
OR4M2	390538	broad.mit.edu	37	15	22368735	22368735	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:22368735C>T	ENST00000332663.2	+	1	258	c.160C>T	c.(160-162)Cat>Tat	p.H54Y	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTAGACCCTCATCTGACCTC	0.403000													17	741					0	0	0.008871	0	0
GMEB2	26205	broad.mit.edu	37	20	62221554	62221554	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:62221554G>A	ENST00000266068.1	-	9	1959	c.1481C>T	c.(1480-1482)tCg>tTg	p.S494L	GMEB2_ENST00000370077.1_Missense_Mutation_p.S494L|GMEB2_ENST00000370069.1_Missense_Mutation_p.S443L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	494					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GGAGCCAGGCGAGGCCTGGGC	0.682000													16	68					0	0	0.003163	0	0
PAX4	5078	broad.mit.edu	37	7	127251249	127251249	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:127251249G>T	ENST00000341640.2	-	9	1106	c.901C>A	c.(901-903)Cca>Aca	p.P301T	PAX4_ENST00000378740.2_Intron|PAX4_ENST00000463946.1_Missense_Mutation_p.P299T|PAX4_ENST00000338516.3_3'UTR	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	312	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTCGGCTGTGGGGGCAAGTGG	0.577000													13	12					3.35478e-16	4.14292e-16	0.003163	1	0
FMR1	2332	broad.mit.edu	37	X	147014083	147014083	+	Translation_Start_Site	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:147014083A>T	ENST00000440235.2	+	0	183				FMR1_ENST00000439526.2_Missense_Mutation_p.E257V|FMR1_ENST00000218200.8_Missense_Mutation_p.E257V|FMR1_ENST00000370477.1_Missense_Mutation_p.E257V|FMR1_ENST00000370471.3_Missense_Mutation_p.E257V|FMR1_ENST00000334557.6_Missense_Mutation_p.E257V|FMR1_ENST00000370470.1_Missense_Mutation_p.E257V|FMR1_ENST00000370475.4_Missense_Mutation_p.E257V			Q06787	FMR1_HUMAN	fragile X mental retardation 1						mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GATCTAGATGAAGATACCTGC	0.363000									Fragile X syndrome				37	166					0	0	0.004878	0	0
PNLIP	5406	broad.mit.edu	37	10	118319931	118319931	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:118319931G>C	ENST00000369221.2	+	11	1092	c.1064G>C	c.(1063-1065)tGg>tCg	p.W355S		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	355	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	CTTGCAGGTTGGAGGTATAAG	0.353000													27	27					0	0	0.006320	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96583663	96583663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:96583663C>A	ENST00000456556.1	-	36	2371	c.2287G>T	c.(2287-2289)Gag>Tag	p.E763*	ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAATCTTCCTCGTCAGTTGTA	0.318000													5	21					1.23904e-05	1.30398e-05	0.000602	1	0
UBN2	254048	broad.mit.edu	37	7	138958816	138958816	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:138958816G>A	ENST00000288561.8	+	11	1969	c.1720G>A	c.(1720-1722)Gca>Aca	p.A574T	UBN2_ENST00000473989.2_Missense_Mutation_p.A657T	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	657										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CTGGATGCAGGCAAGGTAAGA	0.348000													31	24					0	0	0.010818	0	0
CANX	821	broad.mit.edu	37	5	179143205	179143205	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:179143205G>A	ENST00000247461.4	+	8	1021	c.821G>A	c.(820-822)cGt>cAt	p.R274H	CANX_ENST00000452673.2_Missense_Mutation_p.R274H|CANX_ENST00000415618.2_Missense_Mutation_p.R309H|CANX_ENST00000512607.2_Missense_Mutation_p.R166H|CANX_ENST00000504734.1_Missense_Mutation_p.R274H|CANX_ENST00000503126.1_3'UTR	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	274					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCCTTCACGTGAAATTGAG	0.448000													7	102					0	0	0.001984	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96657421	96657421	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:96657421G>A	ENST00000456556.1	-	1	120	c.36C>T	c.(34-36)ctC>ctT	p.L12L						ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AGCGGTCCCTGAGGGTGGGCC	0.552000													8	107					0	0	0.004482	0	0
LMNB1	4001	broad.mit.edu	37	5	126158531	126158531	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:126158531A>T	ENST00000261366.5	+	8	1806	c.1445A>T	c.(1444-1446)tAt>tTt	p.Y482F	LMNB1_ENST00000460265.1_3'UTR	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	482	Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		TCAGTCAGTTATAAATATACC	0.388000													17	16					0	0	0.007413	0	0
TACC2	10579	broad.mit.edu	37	10	123844559	123844559	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:123844559G>T	ENST00000369005.1	+	4	2884	c.2544G>T	c.(2542-2544)caG>caT	p.Q848H	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.Q848H|TACC2_ENST00000334433.3_Missense_Mutation_p.Q848H|TACC2_ENST00000453444.2_Missense_Mutation_p.Q848H|TACC2_ENST00000515603.1_Missense_Mutation_p.Q848H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	848						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCAAGGAGCAGGCCCAGCCAC	0.532000													79	104					7.63117e-38	1.12342e-37	0.003610	1	0
PEG3	5178	broad.mit.edu	37	19	57326225	57326225	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:57326225C>T	ENST00000326441.9	-	10	3948	c.3585G>A	c.(3583-3585)ggG>ggA	p.G1195G	PEG3_ENST00000423103.2_Silent_p.G1195G|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.G1069G|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.G1071G|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1195					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)		CATCATCACACCCCTTCATGG	0.468000													73	135					0	0	0.003610	0	0
SLC44A4	80736	broad.mit.edu	37	6	31836986	31836986	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:31836986G>A	ENST00000544672.1	-	13	1247	c.951C>T	c.(949-951)aaC>aaT	p.N317N	SLC44A4_ENST00000229729.6_Silent_p.N393N|SLC44A4_ENST00000375562.4_Silent_p.N351N	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	393						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGGAGCTGATGTTGGATGCCC	0.567000													43	54					0	0	0.011902	0	0
UMPS	7372	broad.mit.edu	37	3	124456947	124456947	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:124456947G>C	ENST00000232607.2	+	3	949	c.843G>C	c.(841-843)aaG>aaC	p.K281N	UMPS_ENST00000413078.2_Missense_Mutation_p.K103N|UMPS_ENST00000538242.1_Missense_Mutation_p.K103N|UMPS_ENST00000536109.1_Missense_Mutation_p.K189N|UMPS_ENST00000498715.1_3'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	281	OMPdecase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		GCATGCTGAAGACTCATGTAG	0.413000													28	83					0	0	0.005443	0	0
RP1	6101	broad.mit.edu	37	8	55539407	55539407	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:55539407G>A	ENST00000220676.1	+	4	3113	c.2965G>A	c.(2965-2967)Gag>Aag	p.E989K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	989					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)			TCTATGTAAAGAGGGAGATAA	0.368000													52	120					0	0	0.003610	0	0
LILRA2	11027	broad.mit.edu	37	19	55086396	55086396	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:55086396C>A	ENST00000251377.3	+	5	684	c.551C>A	c.(550-552)cCc>cAc	p.P184H	LILRA2_ENST00000391738.3_Missense_Mutation_p.P184H|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P184H|LILRA2_ENST00000391737.1_Missense_Mutation_p.P172H					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCCGTGGGCCCCGTGAGCCCG	0.577000													122	241					1.30845e-55	2.02417e-55	0.003610	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090676	238090676	+	RNA	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:238090676G>T	ENST00000450451.1	+	0	2182					NR_027247.2																						TCTGGACCTGGCTGGCAGGGA	0.617000													17	18					2.23348e-06	2.38809e-06	0.004007	1	0
OR4K17	390436	broad.mit.edu	37	14	20585657	20585657	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:20585657C>A	ENST00000315543.4	+	1	92	c.92C>A	c.(91-93)gCc>gAc	p.A31D		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGGATGGAGGCCATGAAACTA	0.418000													51	137					5.85753e-14	6.98451e-14	0.003610	1	0
HAPLN1	1404	broad.mit.edu	37	5	82940454	82940454	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:82940454C>T	ENST00000274341.4	-	4	1353	c.503G>A	c.(502-504)gGg>gAg	p.G168E		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	168	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ATTGTAGCGCCCCAGTCGTGG	0.552000													17	28					0	0	0.006122	0	0
OSTN	344901	broad.mit.edu	37	3	190936629	190936629	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:190936629G>A	ENST00000445281.1	+	3	263	c.196G>A	c.(196-198)Gat>Aat	p.D66N	OSTN_ENST00000339051.1_Missense_Mutation_p.D66N|OSTN-AS1_ENST00000430375.1_RNA			P61366	OSTN_HUMAN	osteocrin	66					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		CTTGCTTCTTGATGAATTGGT	0.453000													42	53					0	0	0.006230	0	0
SCP2	6342	broad.mit.edu	37	1	53427299	53427299	+	Missense_Mutation	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:53427299A>G	ENST00000371514.3	+	6	689	c.521A>G	c.(520-522)tAt>tGt	p.Y174C	SCP2_ENST00000528311.1_Missense_Mutation_p.Y93C|SCP2_ENST00000371509.4_Missense_Mutation_p.Y130C|SCP2_ENST00000407246.2_Missense_Mutation_p.Y150C|SCP2_ENST00000371513.5_Missense_Mutation_p.Y130C	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	174					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						ATGGAAAAATATGGTATGTTA	0.373000													15	53					0	0	0.002450	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458880	45458880	+	RNA	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:45458880C>A	ENST00000548424.1	+	0	448																											CTCAGCTCTCCGTTTGGATGT	0.458000													24	16					2.89027e-11	3.32397e-11	0.002299	1	0
CTNNB1	1499	broad.mit.edu	37	3	41266166	41266166	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:41266166G>A	ENST00000349496.5	+	3	443	c.163G>A	c.(163-165)Gag>Aag	p.E55K	CTNNB1_ENST00000405570.1_Missense_Mutation_p.E55K|CTNNB1_ENST00000396185.3_Missense_Mutation_p.E55K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.E48K|CTNNB1_ENST00000396183.3_Missense_Mutation_p.E55K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	55					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.E55K(3)|p.W25_I140del(3)|p.T3_A126del(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.Q28_Q61del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(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)	TCCTGAGGAAGAGGATGTGGA	0.463000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				20	55					0	0	0.010504	0	0
PRDM16	63976	broad.mit.edu	37	1	3319455	3319455	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:3319455G>T	ENST00000378398.3	+	7	862	c.780G>T	c.(778-780)gcG>gcT	p.A260A	PRDM16_ENST00000442529.2_Silent_p.A259A|PRDM16_ENST00000441472.2_Silent_p.A259A|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.A260A|PRDM16_ENST00000511072.1_Silent_p.A260A|PRDM16_ENST00000270722.5_Silent_p.A259A|PRDM16_ENST00000378391.2_Silent_p.A259A			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	259					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TGGGGGCTGCGCTCTACGAGG	0.642000			T	EVI1	"""MDS, AML"""								85	33					2.33499e-56	3.61779e-56	0.003610	1	0
DSG4	147409	broad.mit.edu	37	18	28991204	28991204	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:28991204C>G	ENST00000359747.4	+	14	2234	c.2205C>G	c.(2203-2205)acC>acG	p.T735T	DSG4_ENST00000308128.4_Silent_p.T716T|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	716					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)			AAATCTACACCAACACCTATG	0.617000													64	67					0	0	0.003610	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144381793	144381793	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:144381793G>T	ENST00000295095.6	+	12	1262	c.1095G>T	c.(1093-1095)ccG>ccT	p.P365P		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	365	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGCCTGAGCCGCTCTTCCCTT	0.488000													54	31					9.57592e-29	1.34465e-28	0.003610	1	0
ZNF233	353355	broad.mit.edu	37	19	44778564	44778564	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:44778564G>A	ENST00000391958.2	+	5	1878	c.1751G>A	c.(1750-1752)aGa>aAa	p.R584K	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.R566K	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCCCATCAGAGAGTCCACACA	0.458000													20	79					0	0	0.007413	0	0
LTBP1	4052	broad.mit.edu	37	2	33246069	33246069	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:33246069C>A	ENST00000404816.2	+	3	1012	c.659C>A	c.(658-660)aCa>aAa	p.T220K	LTBP1_ENST00000354476.3_Missense_Mutation_p.T220K			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	220					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCCTGTGAAACAATAGCTGCC	0.567000													222	167					1.77857e-91	2.84345e-91	0.003610	1	0
PRPH	5630	broad.mit.edu	37	12	49691154	49691154	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:49691154C>T	ENST00000257860.4	+	6	2510	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	337	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						AGGCGCTGCTCAGGCAGTTGA	0.662000											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	52					0	0	0.001984	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495195	6495195	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:6495195C>A	ENST00000264071.2	-	4	1686	c.1315G>T	c.(1315-1317)Gcg>Tcg	p.A439S	TUBB4A_ENST00000540257.1_Missense_Mutation_p.A439S			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	439					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										TCCTCCTCCGCCTCCTCCTCG	0.617000													64	32					5.10508e-28	7.12866e-28	0.003610	1	0
HIST1H4F	8361	broad.mit.edu	37	6	26240785	26240785	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:26240785G>C	ENST00000377745.2	+	1	225	c.132G>C	c.(130-132)gtG>gtC	p.V44V		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	44					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCGGCGGCGTGAAACGCATTT	0.597000													6	88					0	0	0.001168	0	0
PREX1	57580	broad.mit.edu	37	20	47351100	47351100	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:47351100C>A	ENST00000396220.1	-	4	524	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L	PREX1_ENST00000371941.3_Missense_Mutation_p.V168L			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	168	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AAGGCGCGCACGGTAGGGATC	0.557000													127	161					2.27795e-59	3.54034e-59	0.003610	1	0
CYB5R4	51167	broad.mit.edu	37	6	84618742	84618742	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:84618742C>G	ENST00000369681.4	+	4	485	c.345C>G	c.(343-345)gtC>gtG	p.V115V	CYB5R4_ENST00000369679.4_Silent_p.V81V	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	115	Cytochrome b5 heme-binding.				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)		ATCGTTGGGTCAATTATGAAT	0.418000													10	36					0	0	0.010729	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526309	176526309	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:176526309G>T	ENST00000367662.3	+	2	2015	c.851G>T	c.(850-852)cGg>cTg	p.R284L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R284L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	284					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGATTCCCCGGGAGGCGTTC	0.572000													21	24					1.01871e-10	1.1689e-10	0.008871	1	0
PCM1	5108	broad.mit.edu	37	8	17796488	17796488	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:17796488G>C	ENST00000325083.8	+	5	1021	c.582G>C	c.(580-582)ggG>ggC	p.G194G	PCM1_ENST00000518537.1_Silent_p.G194G|PCM1_ENST00000524226.1_Silent_p.G194G|PCM1_ENST00000519253.1_Silent_p.G194G	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	194					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAGAAGATGGGAGGGGAGAAC	0.408000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								23	23					0	0	0.003330	0	0
ATP8A2	51761	broad.mit.edu	37	13	26116178	26116178	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:26116178G>A	ENST00000381655.2	+	9	915	c.773G>A	c.(772-774)gGg>gAg	p.G258E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G218E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	218					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AACTTAGATGGGAAAAGGTAT	0.363000													15	32					0	0	0.004990	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90122113	90122113	+	RNA	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:90122113C>G	ENST00000483379.1	+	0	512																											TTATTACTGTCTACAGCATAA	0.517000													6	311					0	0	0.006214	0	0
DCHS1	8642	broad.mit.edu	37	11	6653736	6653736	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:6653736G>T	ENST00000299441.3	-	6	3418	c.3007C>A	c.(3007-3009)Cct>Act	p.P1003T	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1003	Cadherin 10.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGTAGGTAGGGCTGTTGAAT	0.642000													6	10					0.00116845	0.00120074	0.001168	1	0
SPEG	10290	broad.mit.edu	37	2	220355508	220355508	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:220355508G>T	ENST00000312358.7	+	38	9347	c.9215G>T	c.(9214-9216)gGc>gTc	p.G3072V	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3072	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGCTACAAGGCCTGGACTAC	0.597000													82	95					6.71967e-41	1.00545e-40	0.003610	1	0
ADCY2	108	broad.mit.edu	37	5	7743826	7743826	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:7743826G>T	ENST00000338316.4	+	15	2006	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	ADCY2_ENST00000537121.1_Silent_p.L459L|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	639					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTCTCTTGCTGGCCTTCATCC	0.483000													136	365					3.67666e-70	5.83154e-70	0.003610	1	0
NEURL1	9148	broad.mit.edu	37	10	105330828	105330828	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:105330828C>G	ENST00000369780.4	+	2	694	c.285C>G	c.(283-285)ttC>ttG	p.F95L	NEURL_ENST00000369777.2_Missense_Mutation_p.F78L	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		95	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCATCACCTTCAGCAACCGCC	0.652000													4	103					0	0	0.009096	0	0
RGS6	9628	broad.mit.edu	37	14	72921245	72921245	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:72921245T>A	ENST00000553530.1	+	4	401	c.194T>A	c.(193-195)aTt>aAt	p.I65N	RGS6_ENST00000343854.6_Missense_Mutation_p.I65N|RGS6_ENST00000402788.2_Missense_Mutation_p.I65N|RGS6_ENST00000404301.2_Missense_Mutation_p.I65N|RGS6_ENST00000556437.1_Missense_Mutation_p.I65N|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000553525.1_Missense_Mutation_p.I65N|RGS6_ENST00000555571.1_Missense_Mutation_p.I65N|RGS6_ENST00000407322.4_Missense_Mutation_p.I65N|RGS6_ENST00000406236.4_Missense_Mutation_p.I65N|RGS6_ENST00000434263.2_5'UTR|RGS6_ENST00000355512.6_Missense_Mutation_p.I65N	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	65	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GGTACTGACATTGTGCAGTGG	0.448000													7	160					0	0	0.003080	0	0
DMRTB1	63948	broad.mit.edu	37	1	53930348	53930348	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:53930348C>A	ENST00000371445.3	+	3	844	c.789C>A	c.(787-789)taC>taA	p.Y263*	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	263	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CAAGCTACTACCTgccgccgc	0.662000													20	60					1.55795e-14	1.87103e-14	0.012319	1	0
ACSM2A	123876	broad.mit.edu	37	16	20492161	20492161	+	Missense_Mutation	SNP	C	C	G	rs75603553	byFrequency	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:20492161C>G	ENST00000573854.1	+	12	1541	c.1427C>G	c.(1426-1428)tCg>tGg	p.S476W	ACSM2A_ENST00000219054.6_Missense_Mutation_p.S476W|ACSM2A_ENST00000417235.2_Missense_Mutation_p.S397W|ACSM2A_ENST00000536134.1_Missense_Mutation_p.S248W|ACSM2A_ENST00000575690.1_Missense_Mutation_p.S476W|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.S476W	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	476					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATTGGACCCTCGGAGGTAGAG	0.567000													20	116					0	0	0.012319	0	0
OR14K1	343170	broad.mit.edu	37	1	247902086	247902086	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:247902086T>A	ENST00000283225.2	+	1	170	c.170T>A	c.(169-171)aTg>aAg	p.M57K	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CACATGGCAATGTACTTTTTC	0.478000													45	118					0	0	0.003610	0	0
ASXL3	80816	broad.mit.edu	37	18	31324568	31324568	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:31324568C>G	ENST00000269197.5	+	12	4756	c.4756C>G	c.(4756-4758)Cca>Gca	p.P1586A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGCACGTGGCCCAGCTCCTTT	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	5					0	0	0.004656	0	0
ZXDA	7789	broad.mit.edu	37	X	57935510	57935510	+	Missense_Mutation	SNP	G	G	T	rs138670514		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:57935510G>T	ENST00000358697.4	-	1	1557	c.1345C>A	c.(1345-1347)Cct>Act	p.P449T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	449	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CAAAGGAAAGGTCTCTCGCCG	0.507000													6	109					0.000157383	0.000163914	0.003080	1	0
FLNA	2316	broad.mit.edu	37	X	153590628	153590628	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:153590628G>T	ENST00000422373.1	-	18	2886	c.2638C>A	c.(2638-2640)Cct>Act	p.P880T	FLNA_ENST00000369850.3_Missense_Mutation_p.P880T|FLNA_ENST00000360319.4_Missense_Mutation_p.P880T|FLNA_ENST00000344736.4_Missense_Mutation_p.P880T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	880					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGAGGCCAGGGCCCTCGGCC	0.652000													17	106					3.51602e-12	4.11431e-12	0.008871	1	0
PGBD5	79605	broad.mit.edu	37	1	230492796	230492796	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:230492796G>A	ENST00000321327.2	-	4	692	c.693C>T	c.(691-693)ctC>ctT	p.L231L	PGBD5_ENST00000391860.1_Silent_p.L86L|PGBD5_ENST00000525115.1_Silent_p.L132L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	132						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GGCTCATGACGAGGGCGAGGC	0.622000													16	73					0	0	0.003163	0	0
ITGA1	3672	broad.mit.edu	37	5	52206177	52206177	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:52206177G>T	ENST00000282588.6	+	14	2243	c.1785G>T	c.(1783-1785)ctG>ctT	p.L595L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	595					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGCTCCGCTGGAAGATGATC	0.438000													20	39					1.96292e-10	2.24206e-10	0.010504	1	0
CCDC142	84865	broad.mit.edu	37	2	74709037	74709037	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:74709037A>C	ENST00000393965.3	-	1	1324	c.928T>G	c.(928-930)Tgg>Ggg	p.W310G	CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.W310G	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	310										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CAGGCTGCCCACAGCAGGGTC	0.662000													16	129					0	0	0.004990	0	0
MAP1A	4130	broad.mit.edu	37	15	43817250	43817250	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:43817250C>A	ENST00000382031.1	+	5	4324	c.4293C>A	c.(4291-4293)gaC>gaA	p.D1431E	MAP1A_ENST00000399453.1_Missense_Mutation_p.D1193E|MAP1A_ENST00000300231.5_Missense_Mutation_p.D1193E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1193						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTCCAGAAGACACCCAGTCAC	0.552000													43	81					1.62957e-23	2.18437e-23	0.008740	1	0
CADM2	253559	broad.mit.edu	37	3	86028411	86028411	+	Silent	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:86028411T>A	ENST00000407528.2	+	8	1103	c.1041T>A	c.(1039-1041)tcT>tcA	p.S347S	CADM2_ENST00000405615.2_Silent_p.S349S|CADM2_ENST00000383699.3_Intron	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	347	Thr-rich.				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)		CAACCACATCTGCAACAACCA	0.443000													91	192					0	0	0.003610	0	0
ZNF805	390980	broad.mit.edu	37	19	57765287	57765287	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:57765287G>T	ENST00000535550.1	+	4	1197	c.701G>T	c.(700-702)gGg>gTg	p.G234V	ZNF805_ENST00000414468.2_Missense_Mutation_p.G367V|ZNF805_ENST00000354309.4_Missense_Mutation_p.G234V	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACTCATACCGGGGAGAAGCCC	0.517000													6	60					0.00116845	0.00120074	0.001168	1	0
PDYN	5173	broad.mit.edu	37	20	1961233	1961233	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:1961233G>T	ENST00000217305.2	-	4	726	c.501C>A	c.(499-501)gaC>gaA	p.D167E	PDYN_ENST00000540134.1_Missense_Mutation_p.D167E|PDYN_ENST00000539905.1_Missense_Mutation_p.D167E|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	167					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTCCTTGGGGTCCTCCTCAG	0.597000													40	105					4.57556e-38	6.75568e-38	0.013114	1	0
KCTD5	54442	broad.mit.edu	37	16	2749879	2749879	+	Missense_Mutation	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:2749879A>T	ENST00000301738.4	+	4	585	c.511A>T	c.(511-513)Atg>Ttg	p.M171L	KCTD5_ENST00000564195.1_Missense_Mutation_p.D140V	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	171					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GCTCACGCAGATGGTGTCCAC	0.622000													35	104					0	0	0.004289	0	0
OR51G1	79324	broad.mit.edu	37	11	4944910	4944910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:4944910G>T	ENST00000321961.2	-	1	727	c.660C>A	c.(658-660)taC>taA	p.Y220*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y220*(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGAGGGCGTATGAGAGAA	0.547000													53	71					4.86159e-25	6.596e-25	0.003610	1	0
BANP	54971	broad.mit.edu	37	16	88039714	88039714	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:88039714G>T	ENST00000393207.1	+	6	695	c.474G>T	c.(472-474)cgG>cgT	p.R158R	BANP_ENST00000479780.2_Silent_p.R127R|BANP_ENST00000538234.1_Silent_p.R166R|BANP_ENST00000286122.7_Silent_p.R158R|BANP_ENST00000393208.2_Silent_p.R127R|BANP_ENST00000355022.4_Silent_p.R127R|BANP_ENST00000355163.5_Silent_p.R133R	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	158	Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CTGGGCGTCGGCAGAACACCA	0.612000													80	63					5.02048e-33	7.22144e-33	0.003610	1	0
OR1E2	8388	broad.mit.edu	37	17	3336698	3336698	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:3336698G>T	ENST00000248384.1	-	1	437	c.438C>A	c.(436-438)agC>agA	p.S146R		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	146					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						AGAGCATGGGGCTCATGATGG	0.567000													50	26					3.39706e-21	4.43517e-21	0.003610	1	0
LRIT2	340745	broad.mit.edu	37	10	85984344	85984344	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:85984344G>T	ENST00000372113.4	-	2	642	c.637C>A	c.(637-639)Cag>Aag	p.Q213K	LRIT2_ENST00000538192.1_Missense_Mutation_p.Q213K	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	213	LRRCT.					integral to membrane		p.Q213K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTGACAAACTGGACAAGCCCC	0.557000													6	110					1.61879e-10	1.85533e-10	0.001368	1	0
ME2	4200	broad.mit.edu	37	18	48422209	48422209	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr18:48422209G>A	ENST00000321341.5	+	2	291	c.19G>A	c.(19-21)Gta>Ata	p.V7I	ME2_ENST00000382927.3_Missense_Mutation_p.V7I	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	7					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CCGGTTAAGAGTAGTTTCCAC	0.388000													28	17					0	0	0.006320	0	0
IL36B	27177	broad.mit.edu	37	2	113788630	113788630	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:113788630T>A	ENST00000259213.4	-	3	223	c.116A>T	c.(115-117)aAg>aTg	p.K39M	IL36B_ENST00000327407.2_Missense_Mutation_p.K39M	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	39					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						CTCACCAGGCTTAATGCTGCG	0.507000													41	37					0	0	0.013114	0	0
SORCS1	114815	broad.mit.edu	37	10	108367034	108367034	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:108367034G>C	ENST00000263054.6	-	23	3062	c.3055C>G	c.(3055-3057)Cac>Gac	p.H1019D	SORCS1_ENST00000369698.1_Missense_Mutation_p.H554D|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.H1019D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1019						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACCAGGATGTGCTGGCCTGGA	0.547000													21	61					0	0	0.010504	0	0
FSIP1	161835	broad.mit.edu	37	15	40068673	40068673	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:40068673G>C	ENST00000350221.3	-	2	262	c.53C>G	c.(52-54)tCa>tGa	p.S18*	RP11-37C7.1_ENST00000558616.1_RNA	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	18								p.S18L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GCGTATTCTTGAATTTGAAGC	0.358000													7	98					0	0	0.003080	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885206	88885206	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:88885206C>A	ENST00000319675.3	-	1	1090	c.994G>T	c.(994-996)Gtg>Ttg	p.V332L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	332								p.V332M(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TCCTGGCCCACGGCCGCCACG	0.567000													37	58					1.07637e-12	1.26394e-12	0.004878	1	0
OR8B4	283162	broad.mit.edu	37	11	124294248	124294248	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:124294248C>A	ENST00000356130.3	-	1	541	c.520G>T	c.(520-522)Gac>Tac	p.D174Y		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGATAATGGTCAATGACGTTG	0.502000													14	26					9.31168e-06	9.84098e-06	0.001855	1	0
CPSF3	51692	broad.mit.edu	37	2	9572814	9572814	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:9572814G>A	ENST00000460593.1	+	5	1543	c.405G>A	c.(403-405)gtG>gtA	p.V135V	CPSF3_ENST00000238112.3_Silent_p.V172V			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	172					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TCGCAGGCGTGAAGGTACCCT	0.458000													4	77					0	0	0.009096	0	0
DNAH9	1770	broad.mit.edu	37	17	11593679	11593679	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:11593679G>C	ENST00000262442.3	+	20	4608	c.4540G>C	c.(4540-4542)Gaa>Caa	p.E1514Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1514Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1514	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATCTGGTTTGAAGTGCAGCG	0.493000													3	107					0	0	0.004672	0	0
CCDC41	51134	broad.mit.edu	37	12	94763742	94763742	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:94763742C>G	ENST00000397809.5	-	9	1553	c.1004G>C	c.(1003-1005)aGt>aCt	p.S335T	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000339839.5_Missense_Mutation_p.S335T|CCDC41_ENST00000397807.2_Missense_Mutation_p.S302T|CCDC41_ENST00000547575.1_Missense_Mutation_p.S335T	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	327										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTCTAGCTCACTCTTAGCTCT	0.348000													23	225					0	0	0.003954	0	0
RASGRF1	5923	broad.mit.edu	37	15	79291123	79291123	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:79291123G>A	ENST00000419573.3	-	19	3113	c.2839C>T	c.(2839-2841)Cgc>Tgc	p.R947C	RASGRF1_ENST00000394745.3_Missense_Mutation_p.R163C|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R931C|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	949					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.R947C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTGCTCTGCGGATCACAAAC	0.612000													21	92					0	0	0.002299	0	0
DFNB59	494513	broad.mit.edu	37	2	179325880	179325880	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:179325880G>A	ENST00000409117.3	+	7	1294	c.938G>A	c.(937-939)gGa>gAa	p.G313E	DFNB59_ENST00000375129.4_Missense_Mutation_p.G313E	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	313					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATACTCTGTGGAATGGGGAAC	0.413000													67	187					0	0	0.003610	0	0
LINC00639	283547	broad.mit.edu	37	14	39304955	39304955	+	RNA	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:39304955G>T	ENST00000553932.1	-	0	3607																											AGTGAGGGAAGGCCTTTCGGC	0.547000													8	4					5.18039e-06	5.52135e-06	0.003080	1	0
ANK2	287	broad.mit.edu	37	4	114275772	114275772	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:114275772G>C	ENST00000357077.4	+	38	6051	c.5998G>C	c.(5998-6000)Ggt>Cgt	p.G2000R	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G1967R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1967					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTTCCAGTCAGGTCAGGACCC	0.433000													42	119					0	0	0.007835	0	0
BOD1L1	259282	broad.mit.edu	37	4	13606479	13606479	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:13606479C>G	ENST00000040738.5	-	10	2180	c.2045G>C	c.(2044-2046)cGc>cCc	p.R682P		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	682	Lys-rich.						DNA binding										AATTTCTGAGCGTTCTACTTG	0.398000													218	399					0	0	0.003610	0	0
OVCH1	341350	broad.mit.edu	37	12	29649551	29649551	+	Missense_Mutation	SNP	A	A	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:29649551A>C	ENST00000318184.5	-	2	120	c.121T>G	c.(121-123)Tct>Gct	p.S41A		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	41	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AAGAATCTAGATCCCACGGCA	0.428000													78	104					0	0	0.003610	0	0
ROBO4	54538	broad.mit.edu	37	11	124763875	124763875	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:124763875C>T	ENST00000306534.3	-	9	1870	c.1385G>A	c.(1384-1386)aGg>aAg	p.R462K	ROBO4_ENST00000533054.1_Missense_Mutation_p.R317K	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	462					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CAAGGTAGCCCTCAGCTGCTC	0.642000													6	16					0	0	0.001168	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480947	20480947	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:20480947G>C	ENST00000573854.1	+	4	616	c.502G>C	c.(502-504)Gac>Cac	p.D168H	ACSM2A_ENST00000219054.6_Missense_Mutation_p.D168H|ACSM2A_ENST00000417235.2_Missense_Mutation_p.D89H|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.D168H|ACSM2A_ENST00000424070.1_Missense_Mutation_p.D168H|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D168H	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	168					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCAAGAAGTGGACACAGTGGC	0.453000													42	198					0	0	0.003610	0	0
SARDH	1757	broad.mit.edu	37	9	136555519	136555519	+	Silent	SNP	A	A	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:136555519A>G	ENST00000371872.4	-	16	2309	c.2052T>C	c.(2050-2052)agT>agC	p.S684S	SARDH_ENST00000439388.1_Silent_p.S684S|SARDH_ENST00000422262.2_Silent_p.S516S|SARDH_ENST00000371868.1_Silent_p.S112S	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	684					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGCCCTGGATACTGATCATAC	0.647000													15	79					0	0	0.003163	0	0
GABRG1	2565	broad.mit.edu	37	4	46125841	46125841	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:46125841C>G	ENST00000295452.4	-	1	257	c.90G>C	c.(88-90)ctG>ctC	p.L30L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	30					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTCCCAAATGCAGGGTCAGTA	0.418000													38	62					0	0	0.006230	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995410	140995410	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:140995410C>T	ENST00000285879.4	+	4	2506	c.2220C>T	c.(2218-2220)ctC>ctT	p.L740L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	740							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCTTCTCTCCAGAGTCCTG	0.557000										HNSCC(15;0.026)			142	183					0	0	0.003610	0	0
POLE	5426	broad.mit.edu	37	12	133208909	133208909	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:133208909C>A	ENST00000320574.5	-	45	6365	c.6322G>T	c.(6322-6324)Gtg>Ttg	p.V2108L	POLE_ENST00000535270.1_Missense_Mutation_p.V2081L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2108					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACCTTGCACACGTATTTGATG	0.532000								DNA polymerases (catalytic subunits)					42	23					1.07121e-22	1.42261e-22	0.006999	1	0
OR51G1	79324	broad.mit.edu	37	11	4944978	4944978	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:4944978G>T	ENST00000321961.2	-	1	659	c.592C>A	c.(592-594)Cac>Aac	p.H198N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATAGATGTGATTGACAATG	0.532000													43	82					1.8453e-21	2.41549e-21	0.010771	1	0
CEP170B	283638	broad.mit.edu	37	14	105350319	105350319	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:105350319G>A	ENST00000453495.1	+	9	1434	c.1206G>A	c.(1204-1206)caG>caA	p.Q402Q	CEP170B_ENST00000418279.1_Silent_p.Q331Q|CEP170B_ENST00000556508.1_Silent_p.Q331Q|CEP170B_ENST00000414716.3_Silent_p.Q401Q					centrosomal protein 170B																		TACATAACCAGCAGGCCTTTG	0.662000													12	12					0	0	0.001368	0	0
FBXO17	115290	broad.mit.edu	37	19	39433327	39433327	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:39433327C>G	ENST00000292852.4	-	6	1099	c.758G>C	c.(757-759)aGa>aCa	p.R253T	SARS2_ENST00000448145.2_Missense_Mutation_p.R88T|FBXO17_ENST00000595329.1_Missense_Mutation_p.R253T|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.E157D	NM_024907.5	NP_079183.4			F-box protein 17											breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACTCACGTCTCTCCCGTACTG	0.602000													26	214					0	0	0.005443	0	0
TNN	63923	broad.mit.edu	37	1	175086186	175086186	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:175086186C>T	ENST00000239462.4	+	10	2344	c.2231C>T	c.(2230-2232)tCt>tTt	p.S744F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	744	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCTACACCTCTGCCAAGGAC	0.632000													9	196					0	0	0.004482	0	0
OPN5	221391	broad.mit.edu	37	6	47763229	47763229	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:47763229C>A	ENST00000489301.2	+	4	771	c.686C>A	c.(685-687)tCt>tAt	p.S229Y	OPN5_ENST00000371211.2_Missense_Mutation_p.S229Y|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.S229Y			Q6U736	OPN5_HUMAN	opsin 5	229					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GTTAAGTCCTCTTCCAAAGAA	0.448000													48	95					3.05275e-18	3.85045e-18	0.013114	1	0
TEX37	200523	broad.mit.edu	37	2	88828748	88828748	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:88828748G>T	ENST00000303254.3	+	4	441	c.299G>T	c.(298-300)cGc>cTc	p.R100L		NM_152670.2	NP_689883.1			testis expressed 37																		GAGGACGAGCGCAAGTTCACC	0.587000													25	195					5.45024e-15	6.61674e-15	0.003330	1	0
PRUNE2	158471	broad.mit.edu	37	9	79325435	79325435	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:79325435C>G	ENST00000428286.1	-	8	1878	c.678G>C	c.(676-678)ttG>ttC	p.L226F	PRUNE2_ENST00000376718.3_Missense_Mutation_p.L585F			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	585					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGTCAGGCTCAAATTTCTTT	0.438000													66	28					0	0	0.003610	0	0
BCORL1	63035	broad.mit.edu	37	X	129148236	129148236	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:129148236C>T	ENST00000540052.1	+	3	1532	c.1488C>T	c.(1486-1488)tcC>tcT	p.S496S	BCORL1_ENST00000303743.5_Silent_p.S496S|BCORL1_ENST00000218147.7_Silent_p.S496S|BCORL1_ENST00000359304.2_Silent_p.S496S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	496	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGCTAGCCTCCCCCGAGCTCC	0.597000													47	233					0	0	0.003610	0	0
PLEC	5339	broad.mit.edu	37	8	144992484	144992484	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:144992484G>A	ENST00000322810.4	-	32	12085	c.11916C>T	c.(11914-11916)gaC>gaT	p.D3972D	PLEC_ENST00000527096.1_Silent_p.D3858D|PLEC_ENST00000354958.2_Silent_p.D3813D|PLEC_ENST00000436759.2_Silent_p.D3862D|PLEC_ENST00000345136.3_Silent_p.D3835D|PLEC_ENST00000356346.3_Silent_p.D3821D|PLEC_ENST00000398774.2_Silent_p.D3803D|PLEC_ENST00000357649.2_Silent_p.D3839D|PLEC_ENST00000354589.3_Silent_p.D3835D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3972	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGACAGCTGGTCGTGCGTGT	0.687000													4	39					0	0	0.000602	0	0
CACNA1B	774	broad.mit.edu	37	9	140866024	140866024	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:140866024G>C	ENST00000371372.1	+	11	1668	c.1523G>C	c.(1522-1524)cGg>cCg	p.R508P	CACNA1B_ENST00000371355.4_Missense_Mutation_p.R509P|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R509P|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R508P|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R508P	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	508					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AACCAGCCGCGGCGGCTTACC	0.612000													27	9					0	0	0.007291	0	0
IQCA1	79781	broad.mit.edu	37	2	237374189	237374189	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:237374189C>A	ENST00000409907.3	-	6	1159	c.885G>T	c.(883-885)gaG>gaT	p.E295D	IQCA1_ENST00000309507.5_Missense_Mutation_p.E291D|IQCA1_ENST00000431676.2_Missense_Mutation_p.E295D			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	295							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CTTGAAGGTTCTCCTTGATAT	0.458000													48	58					1.83081e-24	2.47393e-24	0.003610	1	0
BCMO1	53630	broad.mit.edu	37	16	81320966	81320966	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:81320966G>A	ENST00000258168.2	+	10	1830	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	BCMO1_ENST00000425577.2_Missense_Mutation_p.E388K	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	457					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CTGGCCAGCGGAACCCCTGTT	0.493000													4	106					0	0	0.001984	0	0
CHM	1121	broad.mit.edu	37	X	85149241	85149241	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:85149241G>A	ENST00000357749.2	-	12	1491	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	CHM_ENST00000537751.1_Missense_Mutation_p.R340W|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	488					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.R488W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCAATGACCCGAACAGCAAAA	0.378000													67	54					0	0	0.003610	0	0
EFCAB14	9813	broad.mit.edu	37	1	47144309	47144309	+	Splice_Site	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:47144309C>T	ENST00000371933.3	-	11	2289		c.e11-1		EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000418985.1_RNA	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		TCCTGAAGATCTGTCAAAAAT	0.388000													18	62					0	0	0.007413	0	0
UNC45B	146862	broad.mit.edu	37	17	33501353	33501353	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:33501353C>A	ENST00000268876.5	+	14	2026	c.1929C>A	c.(1927-1929)gcC>gcA	p.A643A	UNC45B_ENST00000433649.1_Silent_p.A641A|UNC45B_ENST00000378449.1_Silent_p.A562A|UNC45B_ENST00000394570.2_Silent_p.A641A|UNC45B_ENST00000591048.1_Silent_p.A562A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	643					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGATAGTGCCATCCTCACTG	0.602000													48	99					1.02687e-29	1.44597e-29	0.013114	1	0
UBR4	23352	broad.mit.edu	37	1	19446747	19446747	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:19446747G>A	ENST00000375267.2	-	69	10240	c.10237C>T	c.(10237-10239)Cgt>Tgt	p.R3413C	UBR4_ENST00000375254.3_Missense_Mutation_p.R3413C|UBR4_ENST00000375217.2_Missense_Mutation_p.R3406C|UBR4_ENST00000375226.2_Missense_Mutation_p.R3389C			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3413					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGAAACAACGCAGGAACTGG	0.547000													72	119					0	0	0.003610	0	0
TLR7	51284	broad.mit.edu	37	X	12904260	12904260	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:12904260G>A	ENST00000380659.3	+	3	772	c.633G>A	c.(631-633)ctG>ctA	p.L211L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	211					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TGCTCTCCCTGAAAGATAACA	0.358000													4	55					0	0	0.009096	0	0
SMTN	6525	broad.mit.edu	37	22	31493257	31493257	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr22:31493257G>T	ENST00000333137.7	+	16	2310	c.2092G>T	c.(2092-2094)Ggc>Tgc	p.G698C	SMTN_ENST00000404574.1_Missense_Mutation_p.G221C|SMTN_ENST00000347557.2_Missense_Mutation_p.G698C|SMTN_ENST00000358743.1_Missense_Mutation_p.G698C	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	698					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TTTTGCAGATGGCAGTGGCAG	0.582000													75	68					6.30617e-38	9.2972e-38	0.003610	1	0
OR7E24	26648	broad.mit.edu	37	19	9362033	9362033	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:9362033C>A	ENST00000456448.1	+	1	428	c.314C>A	c.(313-315)aCt>aAt	p.T105N		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	105					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						GACATGCAAACTCACAGCAGA	0.498000													58	27					3.31993e-32	4.75493e-32	0.003610	1	0
ACCS	84680	broad.mit.edu	37	11	44104832	44104832	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:44104832G>T	ENST00000263776.8	+	13	1659	c.1225G>T	c.(1225-1227)Ggc>Tgc	p.G409C		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	409							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCGTGGGGCTGGCTTCTTCAT	0.582000													32	89					1.06801e-11	1.23963e-11	0.009535	1	0
OR2T3	343173	broad.mit.edu	37	1	248637229	248637229	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:248637229C>T	ENST00000359594.2	+	1	603	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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;0.0265)			CTGAAGCTCTCCTGCTCTGAC	0.517000													131	227					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70908800	70908800	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:70908800T>A	ENST00000393567.2	-	63	10730	c.10580A>T	c.(10579-10581)gAg>gTg	p.E3527V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3527										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)				GACTCCTAGCTCATCCTGCAG	0.522000													21	11					0	0	0.006320	0	0
EPSTI1	94240	broad.mit.edu	37	13	43469156	43469156	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:43469156C>T	ENST00000313640.7	-	11	1001	c.937G>A	c.(937-939)Ggt>Agt	p.G313S	EPSTI1_ENST00000398762.3_Missense_Mutation_p.G313S|EPSTI1_ENST00000313624.7_Missense_Mutation_p.G302S	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	313										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		CAGCTGTTACCGCTATTCATA	0.378000													19	75					0	0	0.010504	0	0
DNAH17	8632	broad.mit.edu	37	17	76486888	76486888	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:76486888G>T	ENST00000389840.5	-	44	6793	c.6669C>A	c.(6667-6669)cgC>cgA	p.R2223R	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.R2232R					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCTCATGGTGCGGTTCAGGG	0.637000													7	12					5.18039e-06	5.52135e-06	0.003080	1	0
MPZL3	196264	broad.mit.edu	37	11	118122970	118122970	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:118122970G>A	ENST00000278949.4	-	1	95	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	MPZL3_ENST00000527472.1_Missense_Mutation_p.L14F|MPZL3_ENST00000525386.1_Missense_Mutation_p.L14F			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	14					cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGAGGGAAGAGAGCGCAGCCA	0.612000													11	137					0	0	0.001368	0	0
ITGA8	8516	broad.mit.edu	37	10	15617523	15617523	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:15617523C>A	ENST00000378076.3	-	24	2796	c.2443G>T	c.(2443-2445)Gag>Tag	p.E815*		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	815					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCAACCTCCTCCTCTTTGTGG	0.423000													22	115					6.21321e-17	7.75879e-17	0.002780	1	0
GRIN2D	2906	broad.mit.edu	37	19	48925050	48925050	+	Missense_Mutation	SNP	G	G	T	rs150071822		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:48925050G>T	ENST00000263269.3	+	10	2188	c.2100G>T	c.(2098-2100)agG>agT	p.R700S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	700						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AGTTCCAGAGGCCCCAGGAGC	0.582000													48	31					6.4308e-24	8.64327e-24	0.003610	1	0
RAB30	27314	broad.mit.edu	37	11	82705138	82705138	+	Silent	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:82705138G>A	ENST00000533486.1	-	4	404	c.120C>T	c.(118-120)gcC>gcT	p.A40A	RAB30_ENST00000534141.1_Silent_p.A40A|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000532548.1_Silent_p.A40A|RAB30_ENST00000527633.1_Silent_p.A40A|RAB30_ENST00000525117.1_Intron|RAB30_ENST00000260056.2_Silent_p.A40A	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	40					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CTCCAATTGTGGCTCCTTGAC	0.378000													49	86					0	0	0.003610	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889244	18889244	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:18889244C>A	ENST00000447925.2	-	3	309	c.40G>T	c.(40-42)Ggt>Tgt	p.G14C	PLCZ1_ENST00000539875.1_Missense_Mutation_p.G16C|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000266505.7_Missense_Mutation_p.G16C|PLCZ1_ENST00000435379.1_Missense_Mutation_p.G14C	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	16					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G16S(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ATTTTTCCACCTCTGAAGTCA	0.303000													14	46					0.000219431	0.0002283	0.002450	1	0
CYP4F8	11283	broad.mit.edu	37	19	15734818	15734818	+	RNA	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:15734818C>A	ENST00000441682.2	+	0	1090							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TCTTGTACAACCTCGCGAGGC	0.602000													48	30					2.64894e-19	3.37077e-19	0.003610	1	0
RYR2	6262	broad.mit.edu	37	1	237777971	237777971	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:237777971C>A	ENST00000366574.2	+	37	5860	c.5543C>A	c.(5542-5544)cCc>cAc	p.P1848H	RYR2_ENST00000542537.1_Missense_Mutation_p.P1832H|RYR2_ENST00000360064.6_Missense_Mutation_p.P1846H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1848	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGATTGAGCCCAGTGTGTTT	0.493000													42	119					1.47197e-15	1.81332e-15	0.007835	1	0
CCDC37	348807	broad.mit.edu	37	3	126132992	126132992	+	Silent	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:126132992C>G	ENST00000393425.1	+	4	294	c.195C>G	c.(193-195)ctC>ctG	p.L65L	CCDC37_ENST00000505024.1_Silent_p.L65L|CCDC37_ENST00000510833.1_Silent_p.L65L|CCDC37_ENST00000352312.1_Silent_p.L65L			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	65										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TCTTCTTGCTCAGAGATCAGG	0.567000													16	398					0	0	0.006122	0	0
GJB5	2709	broad.mit.edu	37	1	35223715	35223715	+	Missense_Mutation	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:35223715G>C	ENST00000338513.1	+	2	957	c.784G>C	c.(784-786)Gac>Cac	p.D262H		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	262					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)				TCTCTTACCAGACCGCCCCCG	0.567000													27	49					0	0	0.006320	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68725387	68725387	+	Silent	SNP	A	A	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:68725387A>T	ENST00000283916.6	-	2	116	c.18T>A	c.(16-18)cgT>cgA	p.R6R	TMPRSS11D_ENST00000545541.1_Intron|TMPRSS11D_ENST00000509584.1_Intron|RP11-453E17.1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	6					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCGAAGTTACACGTGCTGGCC	0.408000													19	39					0	0	0.008871	0	0
ARL11	115761	broad.mit.edu	37	13	50204848	50204848	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:50204848G>A	ENST00000282026.1	+	2	600	c.265G>A	c.(265-267)Gac>Aac	p.D89N	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	89					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GTACGTGCTGGACAGCACAGA	0.612000													8	241					0	0	0.006214	0	0
CSMD1	64478	broad.mit.edu	37	8	2976080	2976080	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr8:2976080G>T	ENST00000602557.1	-	43	6829	c.6274C>A	c.(6274-6276)Ccc>Acc	p.P2092T	CSMD1_ENST00000537824.1_Missense_Mutation_p.P2091T|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2092T|CSMD1_ENST00000520002.1_Missense_Mutation_p.P2092T|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2091T|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2092T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2092	Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAAATGGGGGTGGATCTGGA	0.408000													35	48					1.57019e-19	2.00569e-19	0.007835	1	0
LINGO4	339398	broad.mit.edu	37	1	151774557	151774557	+	Silent	SNP	G	G	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:151774557G>C	ENST00000368820.3	-	2	1561	c.624C>G	c.(622-624)gcC>gcG	p.A208A		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	208						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TAAGCCTTAGGGCCACTAGTG	0.642000													6	135					0	0	0.001168	0	0
NUFIP1	26747	broad.mit.edu	37	13	45517783	45517783	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:45517783C>T	ENST00000379161.4	-	9	1211	c.1165G>A	c.(1165-1167)Gtt>Att	p.V389I		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	389					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCTGCCAAAACGTCTGCTTCA	0.368000													9	154					0	0	0.008291	0	0
DTWD2	285605	broad.mit.edu	37	5	118183839	118183839	+	Silent	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:118183839C>A	ENST00000304058.4	-	5	544	c.474G>T	c.(472-474)ctG>ctT	p.L158L	DTWD2_ENST00000510708.1_Silent_p.L224L|DTWD2_ENST00000515439.3_Silent_p.L128L			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	224										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CTGCACACTCCAGTGTAGAAA	0.353000													26	56					1.26454e-06	1.3681e-06	0.005443	1	0
ZPLD1	131368	broad.mit.edu	37	3	102196379	102196379	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:102196379C>T	ENST00000306176.1	+	11	1313	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	ZPLD1_ENST00000491959.1_Missense_Mutation_p.L389F|ZPLD1_ENST00000466937.1_Missense_Mutation_p.L389F	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	389						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTTTTCTCTTCTTCTGTGCTC	0.483000													141	184					0	0	0.003610	0	0
ACACA	31	broad.mit.edu	37	17	35609868	35609868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:35609868G>A	ENST00000353139.5	-	15	2402	c.1921C>T	c.(1921-1923)Cag>Tag	p.Q641*	ACACA_ENST00000360679.3_Nonsense_Mutation_p.Q546*|ACACA_ENST00000394406.2_Nonsense_Mutation_p.Q604*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.Q526*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	604					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGTTCATCTGAAAGCTTTCA	0.423000													10	201					0	0	0.006214	0	0
OR4D11	219986	broad.mit.edu	37	11	59271114	59271114	+	Missense_Mutation	SNP	C	C	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:59271114C>G	ENST00000313253.1	+	1	66	c.66C>G	c.(64-66)gaC>gaG	p.D22E		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AATCCCAAGACCAGAGTTTGG	0.413000													43	113					0	0	0.006999	0	0
TEX37	200523	broad.mit.edu	37	2	88828927	88828927	+	Missense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:88828927C>T	ENST00000303254.3	+	4	620	c.478C>T	c.(478-480)Cat>Tat	p.H160Y		NM_152670.2	NP_689883.1			testis expressed 37																		TCCCTGTCTTCATTGCCATAT	0.532000													32	102					0	0	0.003271	0	0
UBAP2	55833	broad.mit.edu	37	9	33988994	33988994	+	Missense_Mutation	SNP	C	C	T	rs112150520	by1000genomes	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:33988994C>T	ENST00000379238.1	-	5	536	c.419G>A	c.(418-420)aGa>aAa	p.R140K	UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000360802.1_Missense_Mutation_p.R140K|UBAP2_ENST00000449054.1_Missense_Mutation_p.R140K|UBAP2_ENST00000418786.2_Missense_Mutation_p.R140K			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	140										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATTGCCGCCTCTTCCTTTCCG	0.428000													61	217					0	0	0.003610	0	0
MCF2L	23263	broad.mit.edu	37	13	113681197	113681197	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:113681197G>T	ENST00000397024.1	+	4	305	c.287G>T	c.(286-288)aGc>aTc	p.S96I	MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000375604.2_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	0	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGGCAGGAGAGCAGCATCAGG	0.602000													14	17					7.93312e-07	8.60135e-07	0.002450	1	0
TAS1R3	83756	broad.mit.edu	37	1	1268372	1268372	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:1268372C>A	ENST00000339381.5	+	4	1379	c.1347C>A	c.(1345-1347)aaC>aaA	p.N449K		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	449					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GCAGCGGAAACGTGGACATGG	0.672000													55	37					4.96213e-28	6.93869e-28	0.003610	1	0
CLCNKB	1188	broad.mit.edu	37	1	16375011	16375011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:16375011C>T	ENST00000375679.4	+	7	700	c.589C>T	c.(589-591)Caa>Taa	p.Q197*		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGAGCAAGCAAAACGAAAT	0.642000													27	81					0	0	0.003755	0	0
VPS13C	54832	broad.mit.edu	37	15	62169227	62169227	+	Missense_Mutation	SNP	T	T	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:62169227T>A	ENST00000261517.5	-	75	10242	c.10169A>T	c.(10168-10170)cAg>cTg	p.Q3390L	VPS13C_ENST00000249837.3_Missense_Mutation_p.Q3347L|VPS13C_ENST00000395898.3_Missense_Mutation_p.Q3347L|VPS13C_ENST00000395896.4_Missense_Mutation_p.Q3390L|VPS13C_ENST00000558919.1_5'UTR	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3390					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTTGTAGAACTGATATCGAAT	0.289000													47	120					0	0	0.003610	0	0
TRPC7	57113	broad.mit.edu	37	5	135692704	135692704	+	Silent	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:135692704G>T	ENST00000513104.1	-	2	654	c.372C>A	c.(370-372)gcC>gcA	p.A124A	TRPC7_ENST00000355180.3_Silent_p.A124A|TRPC7_ENST00000426057.2_Silent_p.A124A	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	124					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTTGAGGATGGCCTCCACGA	0.657000													43	68					1.32136e-16	1.63985e-16	0.008740	1	0
OR5D14	219436	broad.mit.edu	37	11	55563103	55563103	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55563103G>T	ENST00000335605.1	+	1	72	c.72G>T	c.(70-72)aaG>aaT	p.K24N		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATTACCCAAAGCTTCAGATTC	0.393000													56	102					5.22555e-25	7.08024e-25	0.003610	1	0
BTRC	8945	broad.mit.edu	37	10	103294514	103294514	+	Silent	SNP	C	C	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr10:103294514C>T	ENST00000370187.3	+	10	1312	c.1194C>T	c.(1192-1194)acC>acT	p.T398T	BTRC_ENST00000393441.4_Silent_p.T357T|BTRC_ENST00000408038.2_Silent_p.T362T	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	398					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGATGGTGACCTGCTCCAAAG	0.493000													13	293					0	0	0.002450	0	0
CACHD1	57685	broad.mit.edu	37	1	65143951	65143951	+	Missense_Mutation	SNP	G	G	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:65143951G>T	ENST00000371073.2	+	23	3202	c.3202G>T	c.(3202-3204)Gtg>Ttg	p.V1068L	CACHD1_ENST00000290039.5_Missense_Mutation_p.V1017L|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1068					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CGGGGGGATTGTGGGAGCCAA	0.473000													18	70					4.75885e-15	5.7984e-15	0.004990	1	0
PCDH7	5099	broad.mit.edu	37	4	30724649	30724649	+	Missense_Mutation	SNP	C	C	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:30724649C>A	ENST00000361762.2	+	1	2613	c.1605C>A	c.(1603-1605)ttC>ttA	p.F535L	PCDH7_ENST00000543491.1_Missense_Mutation_p.F535L	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	535	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CGCCCATGTTCGGCCAGTCGG	0.622000													7	63					0.000442599	0.00045906	0.006214	1	0
OR8H2	390151	broad.mit.edu	37	11	55873187	55873187	+	Silent	SNP	T	T	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:55873187T>C	ENST00000313503.1	+	1	669	c.669T>C	c.(667-669)ttT>ttC	p.F223F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	223					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)					TCATTCTCTTTACCATCCTGA	0.393000										HNSCC(53;0.14)			8	175					0	0	0.003080	0	0
CARKD	55739	broad.mit.edu	37	13	111290599	111290599	+	Missense_Mutation	SNP	G	G	A			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr13:111290599G>A	ENST00000309957.2	+	10	918	c.904G>A	c.(904-906)Gac>Aac	p.D302N	CARKD_ENST00000424185.2_Intron|CARKD_ENST00000470164.2_Intron|CARKD_ENST00000458711.2_Intron	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	0	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						GGGCATATCAGACTTGAAATT	0.532000													14	449					0	0	0.001855	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575176	74575177	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:74575176_74575177insT	ENST00000354431.4	-	5	959_960	c.768_769insA	c.(766-771)aaggatfs	p.D257fs	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.D257fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.D149fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	257										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						ATGTAAATCCATTTTGCTTCAT	0.322													41	79	---	---	---	---					
FAM189B	10712	broad.mit.edu	37	1	155220573	155220573	+	Frame_Shift_Del	DEL	C	C	-	rs76634237		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:155220573delC	ENST00000361361.2	-	9	1513	c.1004delG	c.(1003-1005)gtfs	p.G335fs	FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000350210.2_Frame_Shift_Del_p.G239fs|FAM189B_ENST00000368368.3_Frame_Shift_Del_p.G317fs	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	335						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGGGAGGTCACCAATGGCTGA	0.672											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	29	---	---	---	---					
AVPR1B	553	broad.mit.edu	37	1	206224768	206224771	+	Frame_Shift_Del	DEL	GTCA	GTCA	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr1:206224768_206224771delGTCA	ENST00000367126.4	+	1	793_796	c.328_331delGTCA	c.(328-333)agfs	p.VK110fs		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	110					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GTGCAGGGCCGTCAAGTACCTGCA	0.647													19	82	---	---	---	---					
SOS1	6654	broad.mit.edu	37	2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)gtfs	p.S1242fs	SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome				7	254	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141660521	141660522	+	Frame_Shift_Ins	INS	-	-	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:141660521_141660522insG	ENST00000389484.3	-	23	4704_4705	c.3733_3734insC	c.(3733-3735)ggafs	p.G1245fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1245					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCTACATCCAGCTTCCAACCT	0.371										TSP Lung(27;0.18)			10	114	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099354	168099354	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr2:168099354delC	ENST00000409195.1	+	9	1541	c.1452delC	c.(1450-1452)gtfs	p.V484fs	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.V262fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Del_p.V484fs|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	309					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						GACTACCAGTCCCCAAAGATG	0.388													77	49	---	---	---	---					
ATR	545	broad.mit.edu	37	3	142279124	142279124	+	Frame_Shift_Del	DEL	A	A	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:142279124delA	ENST00000350721.4	-	6	1643	c.1522delT	c.(1522-1524)ctfs	p.S508fs	ATR_ENST00000383101.3_Intron	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	508					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTTGATGAGAACAATGAACA	0.368								Other conserved DNA damage response genes					38	73	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													7	3	---	---	---	---					
FAM86EP	348926	broad.mit.edu	37	4	3948482	3948482	+	RNA	DEL	C	C	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:3948482delC	ENST00000313946.8	-	0	1232																											CCCGGGTGGGCGTGGGGACTC	0.637													56	104	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)del	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													13	48	---	---	---	---					
CDH9	1007	broad.mit.edu	37	5	26915767	26915768	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:26915767_26915768delGT	ENST00000231021.4	-	3	665_666	c.493_494delAC	c.(493-495)tfs	p.T165fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	165	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AACACTGGCAGTGTATAAGTCT	0.351													46	161	---	---	---	---					
ISL1	3670	broad.mit.edu	37	5	50685513	50685513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:50685513delG	ENST00000230658.7	+	4	1097	c.512delG	c.(511-513)cgfs	p.R171fs	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Frame_Shift_Del_p.R171fs	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	171					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CCAGCCCTGCGGCCCCACGTC	0.726													19	40	---	---	---	---					
ADAMTS19	171019	broad.mit.edu	37	5	129072886	129072886	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:129072886delC	ENST00000274487.4	+	23	3744	c.3599delC	c.(3598-3600)gcfs	p.A1200fs	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1200					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GACTTCTATGCCCAAAAGCTG	0.473													10	30	---	---	---	---					
FNIP1	96459	broad.mit.edu	37	5	131007363	131007364	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:131007363_131007364insT	ENST00000307968.7	-	13	2688_2689	c.2689_2690insA	c.(2689-2691)tgcfs	p.C897fs	FNIP1_ENST00000307954.8_Frame_Shift_Ins_p.C880fs|FNIP1_ENST00000510461.1_Frame_Shift_Ins_p.C925fs|FNIP1_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCCTACAGCAATTTTTTTATCT	0.421													29	114	---	---	---	---					
DOCK2	1794	broad.mit.edu	37	5	169267840	169267840	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr5:169267840delG	ENST00000256935.8	+	27	2863	c.2783delG	c.(2782-2784)cgfs	p.R928fs	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Del_p.R420fs|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	928					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCATGGGCCGGGATCACATT	0.453													14	58	---	---	---	---					
OR2J3	442186	broad.mit.edu	37	6	29080009	29080010	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:29080009_29080010delGT	ENST00000377169.1	+	1	342_343	c.342_343delGT	c.(340-345)gagtfs	p.EC114fs		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GAACCACAGAGTGTGTCCTACT	0.510													178	584	---	---	---	---					
TTBK1	84630	broad.mit.edu	37	6	43251532	43251532	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr6:43251532delG	ENST00000259750.4	+	14	3137	c.3054delG	c.(3052-3054)ccfs	p.P1018fs		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1018						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAATGGCCCGGCCCTTGCAG	0.667													14	118	---	---	---	---					
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													9	440	---	---	---	---					
PRDM12	59335	broad.mit.edu	37	9	133543701	133543702	+	Splice_Site	DEL	GT	GT	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr9:133543701_133543702delGT	ENST00000253008.2	+	3	630		c.e3+1			NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCCATTGAGGTGTGTGTGTGT	0.594													8	113	---	---	---	---					
NELL1	4745	broad.mit.edu	37	11	20949981	20949981	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr11:20949981delC	ENST00000298925.5	+	10	1190	c.1037delC	c.(1036-1038)tcfs	p.S346fs	NELL1_ENST00000357134.5_Frame_Shift_Del_p.S318fs|NELL1_ENST00000325319.5_Frame_Shift_Del_p.S261fs|NELL1_ENST00000532434.1_Frame_Shift_Del_p.S318fs			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	318	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCCCCAGACTCCCTCCCAGTG	0.502													31	71	---	---	---	---					
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Translation_Start_Site	DEL	TG	TG	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr12:124103201_124103202delTG	ENST00000421670.3	+	0	639_640				DDX55_ENST00000238146.4_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Intron			Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55								ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.520											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	59	---	---	---	---					
IGHV3-23	28442	broad.mit.edu	37	14	106725714	106725715	+	RNA	INS	-	-	G			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:106725714_106725715insG	ENST00000390609.2	-	0	18_19																											ATCCCAGGGCTGGGCTCCTCTC	0.500													8	80	---	---	---	---					
IGHV4-31	28396	broad.mit.edu	37	14	106805656	106805656	+	RNA	DEL	G	G	-	rs112628447		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr14:106805656delG	ENST00000438142.2	-	0	60																											TTCTTGCACAGGAGGTCCAGG	0.502													7	69	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25465467	25465469	+	RNA	DEL	GAA	GAA	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr15:25465467_25465469delGAA	ENST00000424208.1	+	0	3039				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TGGTGAGACCGAAGAAGACTTGC	0.581													12	10	---	---	---	---					
CD19	930	broad.mit.edu	37	16	28950038	28950039	+	Frame_Shift_Ins	INS	-	-	C			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:28950038_28950039insC	ENST00000538922.1	+	13	1593_1594	c.1531_1532insC	c.(1531-1533)cccfs	p.P511fs	CD19_ENST00000324662.3_Frame_Shift_Ins_p.P510fs|CD19_ENST00000567541.1_Frame_Shift_Ins_p.P511fs	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	510					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	p.Q512fs*>45(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCTGTATGCAGCCCCCCAGCTC	0.609													62	91	---	---	---	---					
ITGAX	3687	broad.mit.edu	37	16	31374335	31374335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:31374335delC	ENST00000268296.4	+	13	1560	c.1439delC	c.(1438-1440)gcfs	p.A480fs	ITGAX_ENST00000562522.1_Frame_Shift_Del_p.A480fs	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	480				A -> P (in Ref. 2; AAA51620).	blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCATCGGGGCCCCCCATTAC	0.677													85	132	---	---	---	---					
ADCY7	113	broad.mit.edu	37	16	50324508	50324508	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:50324508delG	ENST00000394697.2	+	3	652	c.312delG	c.(310-312)ttfs	p.L104fs	ADCY7_ENST00000566433.2_Frame_Shift_Del_p.L104fs|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000538642.1_Frame_Shift_Del_p.L104fs|ADCY7_ENST00000537579.1_Frame_Shift_Del_p.L104fs|ADCY7_ENST00000254235.3_Frame_Shift_Del_p.L104fs			P51828	ADCY7_HUMAN	adenylate cyclase 7	104					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GGGCCTGCTTGGTGGCGCTGG	0.647													41	24	---	---	---	---					
AFG3L1P	172	broad.mit.edu	37	16	90053811	90053811	+	RNA	DEL	A	A	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr16:90053811delA	ENST00000437774.1	+	0	731					NR_003226.1																						gaggaggtggaggaggtggag	0.637													2	4	---	---	---	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)del	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547													7	64	---	---	---	---					
LRRC37A16P	651250	broad.mit.edu	37	17	66136820	66136822	+	RNA	DEL	TGT	TGT	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr17:66136820_66136822delTGT	ENST00000590019.1	-	0	236_238																											GTGGGACTTGTGTTGTTCCCATG	0.325													25	87	---	---	---	---					
NPHS1	4868	broad.mit.edu	37	19	36342440	36342440	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr19:36342440delC	ENST00000378910.5	-	2	192	c.193delG	c.(193-195)ccfs	p.A65fs	NPHS1_ENST00000353632.6_Frame_Shift_Del_p.A65fs	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	65	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCATCTTTGGCCCATTGCACC	0.667													46	66	---	---	---	---					
TMC2	117532	broad.mit.edu	37	20	2539151	2539151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chr20:2539151delG	ENST00000358864.1	+	3	147	c.132delG	c.(130-132)gafs	p.E44fs		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	44	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCAAAGCCGAGGGGACCCCAG	0.682													4	5	---	---	---	---					
NXF4	55999	broad.mit.edu	37	X	101819105	101819106	+	RNA	DEL	CT	CT	-	rs72343127		TCGA-75-6214-01A-41D-1945-08	TCGA-75-6214-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	386c643d-476f-4d19-ab4b-2f33371f90ec	945fa648-2f7f-4447-83cb-18b2d40dbe3f	g.chrX:101819105_101819106delCT	ENST00000360035.2	+	0	1258					NR_002216.1															endometrium(2)|lung(8)	10						TCccctcctactctctctctct	0.559													2	4	---	---	---	---