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
LUZP1	7798	broad.mit.edu	37	1	23417973	23417973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:23417973G>A	ENST00000302291.4	-	4	3583	c.2782C>T	c.(2782-2784)Cga>Tga	p.R928*	LUZP1_ENST00000374623.3_Nonsense_Mutation_p.R928*|LUZP1_ENST00000418342.1_Nonsense_Mutation_p.R928*|LUZP1_ENST00000314174.5_Nonsense_Mutation_p.R928*			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	928						nucleus		p.R928*(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTCAAGTCTCGCCTACTCTTC	0.493000													37	172					0	0	0.006230	0	0
ZNF133	7692	broad.mit.edu	37	20	18296557	18296557	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr20:18296557C>T	ENST00000377671.3	+	7	1618	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	ZNF133_ENST00000396026.3_Silent_p.I357I|ZNF133_ENST00000538547.1_Silent_p.I259I|ZNF133_ENST00000316358.4_Silent_p.I354I|ZNF133_ENST00000402618.2_Silent_p.I291I|ZNF133_ENST00000535822.1_Silent_p.I259I|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000401790.1_Silent_p.I354I	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	354						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I353I(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AGAAGACCATCGTGTGCAGTG	0.582000													10	56					0	0	0.013537	0	0
KCTD7	154881	broad.mit.edu	37	7	66104162	66104162	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:66104162C>T	ENST00000275532.3	+	4	997	c.813C>T	c.(811-813)ctC>ctT	p.L271L	KCTD7_ENST00000443322.1_Silent_p.L271L	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	271						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L271L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ACAAGCACCTCGTGAACCACT	0.587000													13	86					0	0	0.001855	0	0
YES1	7525	broad.mit.edu	37	18	743353	743353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr18:743353G>A	ENST00000584307.1	-	7	957	c.787C>T	c.(787-789)Caa>Taa	p.Q263*	YES1_ENST00000577961.1_Nonsense_Mutation_p.Q268*|YES1_ENST00000314574.4_Nonsense_Mutation_p.Q263*			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	263					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	p.Q263*(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GCTAGACCTTGAGTCTGAGGT	0.403000													31	89					0	0	0.012213	0	0
SLC6A9	6536	broad.mit.edu	37	1	44463634	44463634	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:44463634C>G	ENST00000372310.3	-	13	1765	c.1600G>C	c.(1600-1602)Ggc>Cgc	p.G534R	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.G553R|SLC6A9_ENST00000360584.2_Missense_Mutation_p.G607R|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000475075.2_Missense_Mutation_p.G423R	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	607						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.G534R(1)|p.G607R(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACGGCCCAGCCTGGGTACTGG	0.607000													7	42					0	0	0.013537	0	0
NINL	22981	broad.mit.edu	37	20	25470571	25470571	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr20:25470571C>T	ENST00000278886.6	-	12	1609	c.1536G>A	c.(1534-1536)tcG>tcA	p.S512S	NINL_ENST00000422516.1_Silent_p.S512S	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	512					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.S512S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCTCCGAATCCGAAAGCTTTT	0.577000													25	150					0	0	0.013726	0	0
EIF4A2	1974	broad.mit.edu	37	3	186504304	186504304	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:186504304C>G	ENST00000323963.5	+	7	705	c.641C>G	c.(640-642)tCt>tGt	p.S214C	EIF4A2_ENST00000356531.5_Missense_Mutation_p.S119C|EIF4A2_ENST00000440191.2_Missense_Mutation_p.S215C			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	214	Helicase ATP-binding.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.S214C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GTGTTGCTTTCTGCCACAATG	0.378000			T	BCL6	NHL								4	107					0	0	0.000602	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711649	155711649	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:155711649C>T	ENST00000295101.2	+	3	1807	c.1330C>T	c.(1330-1332)Ccg>Tcg	p.P444S		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	444					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.P444S(1)		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)	AAGTTCAGTTCCGGGCAACTC	0.423000													17	83					0	0	0.007413	0	0
EXOC4	60412	broad.mit.edu	37	7	132973716	132973716	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:132973716G>T	ENST00000253861.4	+	3	346	c.317G>T	c.(316-318)tGc>tTc	p.C106F	EXOC4_ENST00000393161.2_Missense_Mutation_p.C106F|EXOC4_ENST00000539845.1_Missense_Mutation_p.C5F	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	106					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	p.C106F(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CTGCTGCACTGCAAACGGGAT	0.423000													9	70					3.09899e-07	3.4704e-07	0.004482	1	0
DDR2	4921	broad.mit.edu	37	1	162740216	162740216	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:162740216G>A	ENST00000367922.2	+	13	1856	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	DDR2_ENST00000367921.3_Missense_Mutation_p.R473H	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	473					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R473H(2)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACTTACGATCGCATCTTTCCC	0.512000													6	270					0	0	0.001168	0	0
SOBP	55084	broad.mit.edu	37	6	107854781	107854781	+	Silent	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr6:107854781G>C	ENST00000317357.5	+	4	1199	c.540G>C	c.(538-540)gcG>gcC	p.A180A		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	180							metal ion binding	p.A181S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AGTGCTTTGCGGCCTGCCGAC	0.552000													23	134					0	0	0.005443	0	0
WDR72	256764	broad.mit.edu	37	15	53889352	53889352	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr15:53889352C>T	ENST00000396328.1	-	18	3311	c.3072G>A	c.(3070-3072)atG>atA	p.M1024I	WDR72_ENST00000557913.1_Missense_Mutation_p.M1021I|WDR72_ENST00000360509.5_Missense_Mutation_p.M1024I|WDR72_ENST00000559418.1_Missense_Mutation_p.M1034I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1024								p.M1024I(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GCATCTGCTTCATCTCACAGT	0.418000													39	265					0	0	0.007835	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281707	103281707	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:103281707G>T	ENST00000233969.2	+	3	1044	c.902G>T	c.(901-903)cGa>cTa	p.R301L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	301						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R301L(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTACTACTCGATTCACCCAT	0.448000													26	106					0.00395357	0.00411888	0.003954	1	0
SDK2	54549	broad.mit.edu	37	17	71429966	71429966	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:71429966C>T	ENST00000392650.3	-	10	1217	c.1217G>A	c.(1216-1218)aGa>aAa	p.R406K	SDK2_ENST00000388726.3_Missense_Mutation_p.R406K	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	406	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.R406K(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CAGGGGGCCTCTGGTGATGTT	0.617000													4	21					0	0	0.009096	0	0
VCAM1	7412	broad.mit.edu	37	1	101188709	101188709	+	Silent	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:101188709C>G	ENST00000294728.2	+	3	575	c.474C>G	c.(472-474)ctC>ctG	p.L158L	VCAM1_ENST00000370119.4_Silent_p.L96L|VCAM1_ENST00000347652.2_Silent_p.L158L|VCAM1_ENST00000370115.1_Silent_p.L158L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	158	Ig-like C2-type 2.				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	p.L158L(1)		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)	GAGATCATCTCATGAAGAGTC	0.463000													6	39					0	0	0.001168	0	0
ZFR	51663	broad.mit.edu	37	5	32379244	32379244	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:32379244T>A	ENST00000265069.8	-	17	2914	c.2812A>T	c.(2812-2814)Act>Tct	p.T938S	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	938	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.T938S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCAGACCAAGTTGGAACTCGC	0.403000													13	32					0	0	0.007413	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595778	140595778	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:140595778G>T	ENST00000341948.4	+	1	2270	c.2083G>T	c.(2083-2085)Gcc>Tcc	p.A695S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		695					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A695S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCGTTGGCCTCGGTGTC	0.687000													49	170					2.9001e-28	4.07104e-28	0.014410	1	0
HEPHL1	341208	broad.mit.edu	37	11	93844222	93844222	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:93844222C>T	ENST00000315765.9	+	18	3207	c.3199C>T	c.(3199-3201)Cgt>Tgt	p.R1067C		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1067	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.R1071C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CACGGTCCTTCGTAACATAGG	0.507000													3	15					0	0	0.009096	0	0
LNPEP	4012	broad.mit.edu	37	5	96329658	96329658	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:96329658C>T	ENST00000231368.5	+	6	2082	c.1390C>T	c.(1390-1392)Cat>Tat	p.H464Y	LNPEP_ENST00000395770.3_Missense_Mutation_p.H450Y	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	464					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.H464Y(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AATCATTGCTCATGAGCTGGC	0.448000													21	105					0	0	0.003330	0	0
OR8K5	219453	broad.mit.edu	37	11	55927085	55927085	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:55927085C>T	ENST00000313447.1	-	1	708	c.709G>A	c.(709-711)Gct>Act	p.A237T		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237T(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTGGAGAAAGCCTTTTTCCTG	0.408000													7	56					0	0	0.001984	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307479	140307479	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:140307479C>T	ENST00000253807.2	+	1	1002	c.1002C>T	c.(1000-1002)aaC>aaT	p.N334N	PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.N334N|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018898.3	NP_061721.2												p.N334N(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACGTGAACGATCATGCCC	0.537000													33	217					0	0	0.003271	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6628266	6628266	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:6628266C>G	ENST00000396706.2	+	8	1203	c.760C>G	c.(760-762)Cca>Gca	p.P254A	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.P254A|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.P254A|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.P254A|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.P254A|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.P254A			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	254						integral to membrane	acyltransferase activity|zinc ion binding	p.P254A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CCTGACTTTTCCACGGATTGT	0.537000													46	288					0	0	0.014410	0	0
NPNT	255743	broad.mit.edu	37	4	106863478	106863478	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr4:106863478A>C	ENST00000379987.2	+	8	994	c.778A>C	c.(778-780)Atg>Ctg	p.M260L	NPNT_ENST00000427316.2_Missense_Mutation_p.M290L|NPNT_ENST00000514622.1_Missense_Mutation_p.M260L|NPNT_ENST00000453617.2_Missense_Mutation_p.M277L|NPNT_ENST00000305572.8_Missense_Mutation_p.M260L|NPNT_ENST00000506666.1_Missense_Mutation_p.M290L	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	260					cell differentiation	membrane	calcium ion binding	p.M260L(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CCCAAAAGTTATGATTGAACC	0.353000													27	46					0	0	0.008361	0	0
CUX2	23316	broad.mit.edu	37	12	111772465	111772465	+	Silent	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:111772465G>A	ENST00000261726.6	+	19	3301	c.3147G>A	c.(3145-3147)acG>acA	p.T1049T		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1049						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T1049T(1)		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						AGCTGGACACGTACTCCATCA	0.632000													17	59					0	0	0.006122	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603496	48603496	+	Silent	SNP	T	T	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:48603496T>C	ENST00000323776.5	+	14	2328	c.2166T>C	c.(2164-2166)agT>agC	p.S722S	MYCBPAP_ENST00000436259.2_Silent_p.S685S	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	685					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	p.S722S(1)|p.S685S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GGACCAAGAGTCCTCAGCGGA	0.627000													42	144					0	0	0.009718	0	0
SLC23A3	151295	broad.mit.edu	37	2	220028231	220028231	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:220028231G>C	ENST00000455516.2	-	10	1391	c.1344C>G	c.(1342-1344)ttC>ttG	p.F448L	SLC23A3_ENST00000409878.3_Missense_Mutation_p.F440L|SLC23A3_ENST00000396775.3_3'UTR|SLC23A3_ENST00000295738.7_Missense_Mutation_p.F323L	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	440					transmembrane transport	integral to membrane	protein binding|transporter activity	p.F323L(1)|p.F448L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAAGCTGGAGAATCCAGCAG	0.537000													32	224					0	0	0.004878	0	0
PCSK5	5125	broad.mit.edu	37	9	78506251	78506251	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr9:78506251C>T	ENST00000545128.1	+	1	692	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	PCSK5_ENST00000376752.4_Missense_Mutation_p.R52C|PCSK5_ENST00000376767.3_Missense_Mutation_p.R52C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	52					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.R52S(3)|p.R52C(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAGGCCAACCGTATCGCCAG	0.637000													16	124					0	0	0.010504	0	0
TWISTNB	221830	broad.mit.edu	37	7	19738143	19738143	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:19738143C>A	ENST00000222567.5	-	4	883	c.813G>T	c.(811-813)tgG>tgT	p.W271C		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	271	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.W271C(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GCTCCTCCTCCCAGATGCCAT	0.473000													180	574					1.41964e-80	2.06055e-80	0.014410	1	0
MYH9	4627	broad.mit.edu	37	22	36723529	36723529	+	Silent	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr22:36723529T>A	ENST00000216181.5	-	4	725	c.495A>T	c.(493-495)cgA>cgT	p.R165R	MYH9_ENST00000401701.1_Silent_p.R165R	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	165	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	p.R165R(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ATTGATCTTCTCGGTCTGAAA	0.498000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				9	43					0	0	0.013537	0	0
TGM4	7047	broad.mit.edu	37	3	44945470	44945470	+	Silent	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:44945470C>A	ENST00000296125.4	+	9	1134	c.1066C>A	c.(1066-1068)Cga>Aga	p.R356R		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	356					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R356R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GCCGCAGGAGCGAAGCCAGGG	0.632000													15	87					6.31663e-08	7.20867e-08	0.003163	1	0
ANXA11	311	broad.mit.edu	37	10	81930651	81930651	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:81930651C>A	ENST00000438331.1	-	5	558	c.76G>T	c.(76-78)Gct>Tct	p.A26S	ANXA11_ENST00000537102.1_5'UTR|ANXA11_ENST00000360615.4_Missense_Mutation_p.A26S|ANXA11_ENST00000535999.1_Missense_Mutation_p.A26S|ANXA11_ENST00000265447.4_Missense_Mutation_p.A26S|ANXA11_ENST00000372231.3_Missense_Mutation_p.A26S|ANXA11_ENST00000422982.3_Missense_Mutation_p.A26S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	26					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	p.A26S(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGGTAGGCAGCACCTCCCCAG	0.632000													16	48					1.67942e-08	1.9463e-08	0.006122	1	0
RTDR1	27156	broad.mit.edu	37	22	23401887	23401887	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr22:23401887G>A	ENST00000216036.4	-	7	996	c.800C>T	c.(799-801)gCg>gTg	p.A267V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	267							binding	p.A267V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CTCCAGGGCCGCATACTTCCC	0.632000													4	83					0	0	0.009096	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922725	17922725	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:17922725G>C	ENST00000318683.6	+	3	1060	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	B3GNT3_ENST00000595387.1_Missense_Mutation_p.E305Q	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	305					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	p.E305Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TATGTGTCTGGAGCTTGAGGG	0.622000													37	174					0	0	0.003755	0	0
ORC2	4999	broad.mit.edu	37	2	201785052	201785052	+	Silent	SNP	A	A	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:201785052A>C	ENST00000234296.2	-	15	1608	c.1359T>G	c.(1357-1359)ccT>ccG	p.P453P		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	453					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	p.P453P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CTTCAGTATAAGGACTGTATG	0.413000													7	80					0	0	0.004482	0	0
KCNH8	131096	broad.mit.edu	37	3	19436596	19436596	+	Splice_Site	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:19436596G>T	ENST00000328405.2	+	7	1236	c.969_splice	c.e7-1	p.V324_splice	KCNH8_ENST00000537696.1_5'UTR|KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	324						integral to membrane	two-component sensor activity	p.V324L(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTTACCACAGGTGTCTCTCGT	0.438000													44	82					2.13883e-14	2.76844e-14	0.014410	1	0
GRPR	2925	broad.mit.edu	37	X	16142311	16142311	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chrX:16142311A>G	ENST00000380289.2	+	1	633	c.235A>G	c.(235-237)Att>Gtt	p.I79V		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	79					cell proliferation	integral to plasma membrane	bombesin receptor activity	p.I79V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					AAACCTGTTCATTTCCAGTCT	0.478000											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	208					0	0	0.012213	0	0
ARL15	54622	broad.mit.edu	37	5	53409207	53409207	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:53409207T>A	ENST00000504924.1	-	4	380	c.287A>T	c.(286-288)tAc>tTc	p.Y96F	ARL15_ENST00000502271.1_5'UTR|ARL15_ENST00000507646.2_Missense_Mutation_p.Y96F|ARL15_ENST00000510591.2_5'UTR	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	96							GTP binding	p.Y96F(1)|p.Y84F(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				TCCTTGGTAGTAGCGGCTCCA	0.408000													14	44					0	0	0.004007	0	0
TCN1	6947	broad.mit.edu	37	11	59630101	59630101	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:59630101C>T	ENST00000257264.3	-	3	458	c.354G>A	c.(352-354)ctG>ctA	p.L118L	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	118					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTTGTCGATCAGGTGGTAAT	0.383000													14	147					0	0	0.002450	0	0
FAM8A1	51439	broad.mit.edu	37	6	17600920	17600920	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr6:17600920G>A	ENST00000259963.3	+	1	335	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	94						integral to membrane		p.E94K(1)|p.E94Q(1)		endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GGCGGGCTGCGAGGCGCCCGA	0.731000													7	5					0	0	0.008291	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110461710	110461710	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr8:110461710A>G	ENST00000378402.5	+	40	6273	c.6169A>G	c.(6169-6171)Aat>Gat	p.N2057D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2057	IPT/TIG 13.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.N2059D(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATTCCATCTAATAATGGTAA	0.299000										HNSCC(38;0.096)			2	11					0	0	0.004672	0	0
RADIL	55698	broad.mit.edu	37	7	4874839	4874839	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:4874839C>T	ENST00000399583.3	-	4	1002	c.815G>A	c.(814-816)cGg>cAg	p.R272Q	RADIL_ENST00000538469.1_Missense_Mutation_p.R32Q|RADIL_ENST00000536091.1_Missense_Mutation_p.R272Q	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	272					cell adhesion|multicellular organismal development|signal transduction		protein binding	p.R272Q(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACCGTGTGCCGGTCCCGGTT	0.652000													3	29					0	0	0.004672	0	0
DLX6	1750	broad.mit.edu	37	7	96637044	96637044	+	Silent	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:96637044G>A	ENST00000518156.2	+	2	961	c.531G>A	c.(529-531)ctG>ctA	p.L177L	DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Silent_p.L149L|DLX6-AS1_ENST00000430027.2_RNA|DLX6_ENST00000555308.1_Silent_p.L49L			P56179	DLX6_HUMAN	distal-less homeobox 6	59					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L149L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					ATTCCAGCCTGCAGCTCCAGG	0.468000													5	15					0	0	0.003080	0	0
SPTA1	6708	broad.mit.edu	37	1	158585067	158585067	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:158585067C>A	ENST00000368148.3	-	48	6907	c.6727G>T	c.(6727-6729)Gac>Tac	p.D2243Y	SPTA1_ENST00000368147.3_Missense_Mutation_p.D2240Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2243					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D2243Y(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TAGAGCTGGTCCCACTGCTGA	0.542000													112	208					3.04319e-57	4.39572e-57	0.014410	1	0
ALPP	250	broad.mit.edu	37	2	233245131	233245131	+	Splice_Site	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:233245131G>A	ENST00000392027.2	+	7	1063	c.792_splice	c.e7-1	p.G265_splice	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	265						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.G265D(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCCCCACAGGGTGCCCGGTAT	0.672000													22	138					0	0	0.014323	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47422497	47422497	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:47422497G>A	ENST00000404338.3	+	1	565	c.565G>A	c.(565-567)Gca>Aca	p.A189T		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	189					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.A189T(2)									CAATCAGCTTGCAAAAACAAA	0.418000													30	43					0	0	0.009535	0	0
ETAA1	54465	broad.mit.edu	37	2	67632126	67632126	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:67632126C>G	ENST00000272342.5	+	5	2442	c.2312C>G	c.(2311-2313)cCa>cGa	p.P771R	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	771			P -> S (in dbSNP:rs3770655).			cytoplasm|nucleus		p.P771R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTGGTTCTTCCAGGAAGTTCA	0.318000													7	38					0	0	0.001984	0	0
LRCH1	23143	broad.mit.edu	37	13	47279229	47279229	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr13:47279229G>T	ENST00000311191.6	+	12	1656	c.1427G>T	c.(1426-1428)aGt>aTt	p.S476I	LRCH1_ENST00000389797.3_Missense_Mutation_p.S476I|LRCH1_ENST00000389798.3_Missense_Mutation_p.S476I	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	476								p.S476I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ACAGAGAGAAGTGTTTTAAAC	0.284000													15	51					1.3612e-06	1.50184e-06	0.003163	1	0
SLC39A12	221074	broad.mit.edu	37	10	18276417	18276417	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:18276417A>G	ENST00000377369.2	+	7	1379	c.1106A>G	c.(1105-1107)tAc>tGc	p.Y369C	SLC39A12_ENST00000539911.1_Missense_Mutation_p.Y235C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.Y369C|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Y369C	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	369					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.Y369C(1)		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						GAATACGGCTACAGCACGGTG	0.527000													8	43					0	0	0.001855	0	0
MCTS1	28985	broad.mit.edu	37	X	119739399	119739399	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chrX:119739399T>C	ENST00000371315.3	+	2	685	c.152T>C	c.(151-153)gTc>gCc	p.V51A	MCTS1_ENST00000371317.5_Missense_Mutation_p.V50A|MCTS1_ENST00000487133.1_3'UTR	NM_001137554.1	NP_001131026.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	50					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	p.V51A(1)|p.V50A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						AAAGATCCTGTCAAAATAGTC	0.318000													21	89					0	0	0.014323	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54654399	54654399	+	Splice_Site	SNP	A	A	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:54654399A>T	ENST00000230640.5	+	15	1787		c.e15-1		SKIV2L2_ENST00000545714.1_Splice_Site	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)						maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.?(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATGTTCATTCAGATTTCTTCT	0.303000													12	53					0	0	0.013537	0	0
AKR1B1	231	broad.mit.edu	37	7	134132119	134132119	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:134132119G>T	ENST00000285930.4	-	8	835	c.756C>A	c.(754-756)ttC>ttA	p.F252L		NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	252					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	p.F252L(1)		kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	TCTGCATGGGGAACCGGATCA	0.542000													16	68					1.01871e-10	1.22821e-10	0.008871	1	0
NTM	50863	broad.mit.edu	37	11	131240725	131240725	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:131240725G>A	ENST00000374791.3	+	1	353	c.24G>A	c.(22-24)atG>atA	p.M8I	NTM_ENST00000539799.1_Missense_Mutation_p.M8I	NM_001048209.1	NP_001041674.1	Q9P121	NTRI_HUMAN	neurotrimin	0					cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.M8I(1)		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						AGCCAAAAATGCACAATTCTA	0.398000													27	92					0	0	0.012213	0	0
SOBP	55084	broad.mit.edu	37	6	107854782	107854782	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr6:107854782G>T	ENST00000317357.5	+	4	1200	c.541G>T	c.(541-543)Gcc>Tcc	p.A181S		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	181							metal ion binding	p.A181S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GTGCTTTGCGGCCTGCCGACG	0.552000													23	130					9.39395e-14	1.19523e-13	0.006320	1	0
C10orf12	26148	broad.mit.edu	37	10	98741603	98741603	+	Silent	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:98741603G>A	ENST00000286067.2	+	1	563	c.456G>A	c.(454-456)agG>agA	p.R152R		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	152								p.R152R(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAGGGCTGAGGATAAATGATT	0.388000													7	77					0	0	0.003080	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47247054	47247054	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:47247054C>T	ENST00000300404.2	+	11	1724	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L	B4GALNT2_ENST00000393354.2_Silent_p.L495L|B4GALNT2_ENST00000504681.1_Silent_p.L469L	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	555					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	p.L555L(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AGCTGGCCCTCCACTACTTCA	0.532000													14	37					0	0	0.004990	0	0
SCAI	286205	broad.mit.edu	37	9	127790688	127790688	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr9:127790688C>A	ENST00000336505.5	-	5	454	c.396G>T	c.(394-396)caG>caT	p.Q132H	SCAI_ENST00000373549.4_Missense_Mutation_p.Q155H	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	132	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.Q155H(9)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GATAGTATAGCTGCCCAATCT	0.338000													6	73					1.6384e-10	1.9674e-10	0.001984	1	0
FSCB	84075	broad.mit.edu	37	14	44976337	44976337	+	Translation_Start_Site	SNP	A	A	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr14:44976337A>T	ENST00000340446.4	-	0	145					NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein							cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AAACGTACCAAGTGTCAAAGA	0.348000													3	19					0	0	0.004672	0	0
ATRN	8455	broad.mit.edu	37	20	3529977	3529977	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr20:3529977G>T	ENST00000262919.5	+	6	1172	c.1104G>T	c.(1102-1104)atG>atT	p.M368I	ATRN_ENST00000446916.2_Missense_Mutation_p.M368I	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	368					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.M368I(1)		breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATTATAACATGGTTCTAGCGT	0.333000													34	110					1.71298e-08	1.97753e-08	0.003755	1	0
KERA	11081	broad.mit.edu	37	12	91449755	91449755	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:91449755G>C	ENST00000266719.3	-	2	551	c.304C>G	c.(304-306)Cta>Gta	p.L102V		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	102					response to stimulus|visual perception	proteinaceous extracellular matrix		p.L102V(1)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTCTTGTTTAGATTTATCCAT	0.368000													27	76					0	0	0.003954	0	0
CUL5	8065	broad.mit.edu	37	11	107904543	107904543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:107904543C>T	ENST00000393094.2	+	2	656	c.40C>T	c.(40-42)Cag>Tag	p.Q14*		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	14					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	p.Q14*(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AGGTTCTCTTCAGTTTGAAGA	0.323000													7	55					0	0	0.006214	0	0
LENG8	114823	broad.mit.edu	37	19	54963275	54963275	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:54963275C>T	ENST00000326764.5	+	3	523	c.44C>T	c.(43-45)tCt>tTt	p.S15F	LENG8_ENST00000376514.2_Missense_Mutation_p.S15F	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	15							protein binding	p.S15F(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGCAGGTCTTCTCAGTACAGC	0.602000													20	57					0	0	0.002780	0	0
CPED1	79974	broad.mit.edu	37	7	120629802	120629802	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:120629802G>T	ENST00000310396.5	+	2	594	c.127G>T	c.(127-129)Gcc>Tcc	p.A43S	CPED1_ENST00000340646.5_Missense_Mutation_p.A43S|CPED1_ENST00000450913.2_Missense_Mutation_p.A43S|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.A43S(1)									GAAGCTCACAGCCGCTGCCCC	0.572000													14	134					2.32078e-09	2.73195e-09	0.003163	1	0
CMKLR1	1240	broad.mit.edu	37	12	108686093	108686093	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:108686093C>A	ENST00000397688.2	-	3	1010	c.641G>T	c.(640-642)cGg>cTg	p.R214L	CMKLR1_ENST00000550402.1_Missense_Mutation_p.R216L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R216L|CMKLR1_ENST00000312143.7_Missense_Mutation_p.R216L|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R214L	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	216					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.R214L(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CACCATGTGCCGGCTATACCC	0.567000													37	33					1.47197e-15	1.92192e-15	0.007835	1	0
OR8H2	390151	broad.mit.edu	37	11	55872945	55872945	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:55872945G>C	ENST00000313503.1	+	1	427	c.427G>C	c.(427-429)Gct>Cct	p.A143P		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A143P(1)		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)					GCTCTGCCTCGCTCTCATCAC	0.453000										HNSCC(53;0.14)			28	279					0	0	0.007291	0	0
BOC	91653	broad.mit.edu	37	3	112991383	112991383	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:112991383C>A	ENST00000495514.1	+	7	1498	c.794C>A	c.(793-795)gCc>gAc	p.A265D	BOC_ENST00000273395.4_Missense_Mutation_p.A265D|BOC_ENST00000355385.3_Missense_Mutation_p.A265D			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	265	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.A265D(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GTCACCTGGGCCAAGGATGGG	0.607000													27	263					2.38352e-08	2.74105e-08	0.004289	1	0
TTN	7273	broad.mit.edu	37	2	179610711	179610711	+	Silent	SNP	A	A	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:179610711A>G	ENST00000360870.5	-	46	16638	c.16416T>C	c.(16414-16416)gaT>gaC	p.D5472D	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8979	Ig-like 35.						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)			ATATTTCAGAATCTCCCATGG	0.393000													4	186					0	0	0.009096	0	0
KEAP1	9817	broad.mit.edu	37	19	10600447	10600447	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:10600447G>A	ENST00000171111.5	-	4	1955	c.1408C>T	c.(1408-1410)Cgt>Tgt	p.R470C	KEAP1_ENST00000393623.2_Missense_Mutation_p.R470C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R470C(3)|p.R470S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TAAAGGAGACGATTGAGGACA	0.557000													24	36					0	0	0.003954	0	0
DTX3	196403	broad.mit.edu	37	12	58000292	58000292	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:58000292C>T	ENST00000551632.1	+	3	155	c.20C>T	c.(19-21)tCa>tTa	p.S7L	DTX3_ENST00000548198.1_5'UTR|DTX3_ENST00000548804.1_5'UTR|DTX3_ENST00000337737.3_5'UTR			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	0					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CTAAGCTCTTCAGGATCAAAG	0.488000													11	58					0	0	0.002450	0	0
ISCU	23479	broad.mit.edu	37	12	108958090	108958090	+	Silent	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:108958090G>T	ENST00000535729.1	+	2	172	c.150G>T	c.(148-150)ggG>ggT	p.G50G	ISCU_ENST00000539593.1_Silent_p.G50G|ISCU_ENST00000431221.2_Silent_p.G50G|ISCU_ENST00000392807.4_Silent_p.G25G|ISCU_ENST00000311893.9_Silent_p.G50G|ISCU_ENST00000547005.1_Silent_p.G50G|ISCU_ENST00000338291.4_Silent_p.G25G			Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	50					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	p.G25G(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						GAAACGTGGGGTCCCTTGACA	0.403000													43	59					1.86633e-21	2.52504e-21	0.014410	1	0
DST	667	broad.mit.edu	37	6	56462573	56462573	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr6:56462573G>A	ENST00000370754.5	-	47	12066	c.12067C>T	c.(12067-12069)Cag>Tag	p.Q4023*	DST_ENST00000421834.2_Nonsense_Mutation_p.Q1757*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q1757*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q1431*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q3843*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q3845*|DST_ENST00000312431.6_Nonsense_Mutation_p.Q3843*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q3519*			Q03001	DYST_HUMAN	dystonin	3843					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.Q1431*(1)|p.Q3845*(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGATTCTCCTGAGTGGTTCCA	0.383000													20	104					0	0	0.010504	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72176135	72176135	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr14:72176135C>T	ENST00000555818.1	+	15	4373	c.4025C>T	c.(4024-4026)tCg>tTg	p.S1342L	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S796L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1321L|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1321L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1342	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.S1342L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AGCACAGCCTCGCTGGGGGCT	0.577000													3	9					0	0	0.001984	0	0
RASGRF2	5924	broad.mit.edu	37	5	80388718	80388718	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:80388718T>A	ENST00000265080.4	+	10	1556	c.1489T>A	c.(1489-1491)Tta>Ata	p.L497I		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	497	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L497I(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACAATGCTTCTTATTTACAAA	0.393000													16	147					0	0	0.007413	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809312	18809312	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:18809312G>C	ENST00000400664.1	+	1	1889	c.1837G>C	c.(1837-1839)Gac>Cac	p.D613H		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	613						integral to membrane		p.D613H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGACCGCTGGGACTTTGCCCC	0.692000													7	17					0	0	0.004482	0	0
GNPAT	8443	broad.mit.edu	37	1	231403468	231403468	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:231403468C>T	ENST00000366647.4	+	9	1267	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	GNPAT_ENST00000366646.3_Silent_p.V305V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	366					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	p.V366V(2)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				ATGCCTTTGTCACTGAAGTTG	0.433000													38	126					0	0	0.006230	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A	rs144618782	by1000genomes	TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1																						CTGTGGGAGGGGGGAATGTTC	0.622000													3	17					0	0	0.009096	0	0
ABRA	137735	broad.mit.edu	37	8	107773333	107773333	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr8:107773333C>T	ENST00000311955.3	-	2	1132	c.1078G>A	c.(1078-1080)Gta>Ata	p.V360I		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	360	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	p.V360I(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TCAAAGTCTACCAGTCCATGT	0.443000													47	242					0	0	0.013114	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136618	40136618	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:40136618C>A	ENST00000278198.2	-	2	3188	c.1225G>T	c.(1225-1227)Ggt>Tgt	p.G409C	LRRC4C_ENST00000530763.1_Missense_Mutation_p.G409C|LRRC4C_ENST00000528697.1_Missense_Mutation_p.G409C|LRRC4C_ENST00000527150.1_Missense_Mutation_p.G409C			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	409	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding	p.G409C(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTTAACGTACCATCACTGAGC	0.458000													73	180					8.41775e-28	1.17065e-27	0.014410	1	0
CEACAM4	1089	broad.mit.edu	37	19	42126015	42126015	+	Missense_Mutation	SNP	G	G	T	rs1126455		TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:42126015G>T	ENST00000600925.1	-	6	801	c.691C>A	c.(691-693)Ccc>Acc	p.P231T	CEACAM4_ENST00000221954.2_Intron			O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	0						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GAGCCTGCGGGACCAGAACAT	0.602000													3	3					0.004672	0.00485044	0.004672	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209212732	209212732	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:209212732G>A	ENST00000264380.4	+	35	5517	c.5359G>A	c.(5359-5361)Ggc>Agc	p.G1787S		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1787	PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.G1787S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CGAGAATCAAGGCGTTGAGCC	0.428000													12	107					0	0	0.002450	0	0
PRAMEF19	645414	broad.mit.edu	37	1	13695841	13695841	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:13695841C>T	ENST00000540591.1	-	3	1170	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	PRAMEF19_ENST00000376101.2_Missense_Mutation_p.R306H	NM_001099790.1	NP_001093260.2			PRAME family member 19									p.R306H(1)		lung(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGGAGCAGCGGCTCAGGGC	0.557000													36	135					0	0	0.013114	0	0
SCN4A	6329	broad.mit.edu	37	17	62029071	62029071	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:62029071G>T	ENST00000578147.1	-	14	2642	c.2566C>A	c.(2566-2568)Ctc>Atc	p.L856I	SCN4A_ENST00000435607.1_Missense_Mutation_p.L856I			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	856					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L856I(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCGAGGCTGAGCATGATGTCC	0.652000													4	10					2.0095e-06	2.20897e-06	0.001984	1	0
KRT6B	3854	broad.mit.edu	37	12	52842654	52842654	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:52842654C>A	ENST00000252252.3	-	6	1222	c.1175G>T	c.(1174-1176)aGa>aTa	p.R392I		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	392	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.R392I(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GATCTCAGATCTCAGCCTCTG	0.512000													34	150					7.04047e-22	9.56864e-22	0.005524	1	0
CLIP2	7461	broad.mit.edu	37	7	73768246	73768246	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:73768246G>T	ENST00000223398.6	+	4	1042	c.715G>T	c.(715-717)Ggg>Tgg	p.G239W	CLIP2_ENST00000361545.5_Missense_Mutation_p.G239W|CLIP2_ENST00000395060.1_Missense_Mutation_p.G239W	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	239	CAP-Gly 2.					microtubule associated complex		p.G239W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCGGTACGTGGGGGAGACAGA	0.647000													19	174					1.2644e-06	1.40021e-06	0.010504	1	0
CLASP1	23332	broad.mit.edu	37	2	122363412	122363412	+	Silent	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:122363412T>A	ENST00000263710.4	-	2	449	c.60A>T	c.(58-60)cgA>cgT	p.R20R	CLASP1_ENST00000541377.1_Silent_p.R20R|CLASP1_ENST00000409078.3_Silent_p.R20R|CLASP1_ENST00000397587.3_Silent_p.R20R|CLASP1_ENST00000455322.2_Silent_p.R20R	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	20					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	p.R20R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CAACCTGCAATCGTTTCCCCA	0.493000													29	69					0	0	0.006320	0	0
KRT2	3849	broad.mit.edu	37	12	53045393	53045393	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:53045393C>G	ENST00000309680.3	-	1	555	c.534G>C	c.(532-534)gaG>gaC	p.E178D		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	178	Coil 1A.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.E178D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCTGCTCACGCTCTTGGGCCT	0.517000													47	246					0	0	0.014410	0	0
GP2	2813	broad.mit.edu	37	16	20331722	20331722	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr16:20331722C>T	ENST00000302555.5	-	5	869	c.720G>A	c.(718-720)ctG>ctA	p.L240L	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381362.4_Silent_p.L243L|GP2_ENST00000341642.5_Silent_p.L93L|GP2_ENST00000381360.5_Silent_p.L96L			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	243	ZP.					anchored to membrane|extracellular region|plasma membrane		p.L240L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CCAGGCCTCCCAGCAAACATT	0.547000													24	66					0	0	0.003330	0	0
SHANK2	22941	broad.mit.edu	37	11	70319293	70319293	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:70319293G>A	ENST00000338508.4	-	33	5233	c.5234C>T	c.(5233-5235)cCa>cTa	p.P1745L	SHANK2_ENST00000449833.2_Missense_Mutation_p.P1149L|SHANK2_ENST00000423696.2_Missense_Mutation_p.P1365L|SHANK2_ENST00000409161.1_Missense_Mutation_p.P1148L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1365					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.P1745L(1)|p.P1149L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGGCTGGCTTGGAAGGCTAAA	0.582000													14	133					0	0	0.003163	0	0
BLOC1S2	282991	broad.mit.edu	37	10	102035226	102035226	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:102035226T>A	ENST00000441611.1	-	4	510	c.293A>T	c.(292-294)aAg>aTg	p.K98M	BLOC1S2_ENST00000370372.2_Missense_Mutation_p.K141M			Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	141					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding	p.K141M(1)		large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		TTCTCATCGCTTCTCCAGCTT	0.368000													45	136					0	0	0.014410	0	0
SPATA16	83893	broad.mit.edu	37	3	172642104	172642104	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:172642104T>C	ENST00000351008.3	-	8	1415	c.1232A>G	c.(1231-1233)cAt>cGt	p.H411R		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	411					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.H411R(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AGGTGTTTTATGCTCTAAAAA	0.328000													34	81					0	0	0.003271	0	0
ZNF43	7594	broad.mit.edu	37	19	21990838	21990838	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:21990838T>A	ENST00000594012.1	-	7	2497	c.1983A>T	c.(1981-1983)aaA>aaT	p.K661N	ZNF43_ENST00000598381.1_Missense_Mutation_p.K661N|ZNF43_ENST00000354959.4_Missense_Mutation_p.K667N|ZNF43_ENST00000595461.1_Missense_Mutation_p.K661N	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K667N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTATCTTATGTTTAGTAAGGG	0.358000													19	45					0	0	0.008871	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332082	130332082	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:130332082C>T	ENST00000299164.2	+	3	1191	c.1191C>T	c.(1189-1191)atC>atT	p.I397I		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	397	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.I397I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TCATCCAGATCGACCGTGCCA	0.607000													16	83					0	0	0.004990	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508196	37508196	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:37508196C>G	ENST00000374660.1	+	40	3844	c.3745C>G	c.(3745-3747)Caa>Gaa	p.Q1249E	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q1130E|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q1130E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1186						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q1130E(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAGGAAAAACAAGACAAAGA	0.373000													6	90					0	0	0.003080	0	0
DLG5	9231	broad.mit.edu	37	10	79581303	79581303	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:79581303T>G	ENST00000372391.2	-	15	2944	c.2939A>C	c.(2938-2940)aAa>aCa	p.K980T	DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	980					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.K980T(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGGGGGCGTTTGAAAGTGTT	0.567000													39	110					0	0	0.006999	0	0
SCAND3	114821	broad.mit.edu	37	6	28541412	28541412	+	Missense_Mutation	SNP	C	C	A	rs137872757	by1000genomes	TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr6:28541412C>A	ENST00000452236.2	-	4	2871	c.2254G>T	c.(2254-2256)Ggt>Tgt	p.G752C		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	752					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.G752C(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agtacttcaccatcaattaca	0.333000													7	26					0.000157383	0.000165696	0.003080	1	0
PRKD2	25865	broad.mit.edu	37	19	47207494	47207494	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:47207494C>T	ENST00000433867.1	-	6	1298	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	PRKD2_ENST00000600194.1_Missense_Mutation_p.R117Q|PRKD2_ENST00000291281.4_Missense_Mutation_p.R274Q|PRKD2_ENST00000595515.1_Missense_Mutation_p.R274Q|PRKD2_ENST00000601806.1_Missense_Mutation_p.R117Q	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	274					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.R274Q(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AACGGTGGGCCGTGTATAGCT	0.592000											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	72					0	0	0.004482	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181822	81181822	+	RNA	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr16:81181822C>A	ENST00000525539.1	-	0	4893				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.W1631_D1632>CY(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACCCCCGGTCCCATTTTCCA	0.597000													7	41					3.09899e-07	3.4704e-07	0.004482	1	0
ASPM	259266	broad.mit.edu	37	1	197062239	197062239	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:197062239A>T	ENST00000367409.4	-	21	9493	c.9237T>A	c.(9235-9237)ttT>ttA	p.F3079L	ASPM_ENST00000367408.1_Missense_Mutation_p.F744L|ASPM_ENST00000294732.7_Missense_Mutation_p.F1494L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3079	IQ 37.				mitosis	cytoplasm|nucleus	calmodulin binding	p.F3079L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAGATTTTTTAAATTCAATAT	0.358000													6	80					0	0	0.001168	0	0
SHANK2	22941	broad.mit.edu	37	11	70319292	70319292	+	Silent	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:70319292T>A	ENST00000338508.4	-	33	5234	c.5235A>T	c.(5233-5235)ccA>ccT	p.P1745P	SHANK2_ENST00000449833.2_Silent_p.P1149P|SHANK2_ENST00000423696.2_Silent_p.P1365P|SHANK2_ENST00000409161.1_Silent_p.P1148P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1365					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.P1745L(1)|p.P1149L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGGGCTGGCTTGGAAGGCTAA	0.577000													14	135					0	0	0.003163	0	0
PRMT8	56341	broad.mit.edu	37	12	3649868	3649868	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:3649868C>T	ENST00000382622.3	+	2	562	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	PRMT8_ENST00000452611.2_Missense_Mutation_p.R49W|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	58					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.R58W(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTGCCCAGGACGGGGCAAGAT	0.592000													205	367					0	0	0.014410	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378873	31378873	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:31378873G>T	ENST00000297142.3	-	2	332	c.10C>A	c.(10-12)Cta>Ata	p.L4I		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	4					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TCAAACGGTAGTGTTAACATG	0.328000													32	251					8.73648e-17	1.15584e-16	0.004289	1	0
ANKS1B	56899	broad.mit.edu	37	12	99640276	99640276	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:99640276C>G	ENST00000547776.2	-	13	2122	c.2123G>C	c.(2122-2124)gGa>gCa	p.G708A	ANKS1B_ENST00000329257.7_Missense_Mutation_p.G708A|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G288A|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	708						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.G708A(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTCCACAAATCCCCCTGCGTT	0.453000													22	58					0	0	0.003330	0	0
OR5H15	403274	broad.mit.edu	37	3	97887972	97887972	+	Silent	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:97887972G>T	ENST00000356526.2	+	1	429	c.429G>T	c.(427-429)cgG>cgT	p.R143R		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R143R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGTGCATCCGGCTATTAATCT	0.373000													21	69					4.22769e-11	5.15951e-11	0.006320	1	0
SLC41A2	84102	broad.mit.edu	37	12	105199029	105199029	+	Silent	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:105199029G>A	ENST00000258538.3	-	10	1750	c.1623C>T	c.(1621-1623)taC>taT	p.Y541Y	SLC41A2_ENST00000549713.1_5'UTR	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	541						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	p.Y458Y(1)|p.Y541Y(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						ATGCTGTTAGGTAGGGGATGG	0.453000													172	200					0	0	0.014410	0	0
LINC00303	284573	broad.mit.edu	37	1	204006616	204006616	+	RNA	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:204006616G>T	ENST00000367207.3	-	0	404																											GTCAGGGGAGGCAACGTTGTC	0.607000													16	79					1.56452e-12	1.96552e-12	0.007413	1	0
VWA3B	200403	broad.mit.edu	37	2	98851134	98851134	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:98851134A>G	ENST00000477737.1	+	17	2536	c.2332A>G	c.(2332-2334)Aga>Gga	p.R778G		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	778								p.R778G(1)		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						CAGCCTGCTCAGAAGCCAGAT	0.473000													18	60					0	0	0.008871	0	0
CCT5	22948	broad.mit.edu	37	5	10258515	10258515	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:10258515G>C	ENST00000280326.4	+	6	1161	c.741G>C	c.(739-741)aaG>aaC	p.K247N	CCT5_ENST00000503026.1_Missense_Mutation_p.K226N|CCT5_ENST00000506600.1_Missense_Mutation_p.K154N|CCT5_ENST00000515676.1_Missense_Mutation_p.K209N|CCT5_ENST00000515390.1_Missense_Mutation_p.K192N	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	247					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	p.K247N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AAGATGCGAAGATTGCAATTC	0.408000													22	156					0	0	0.004656	0	0
FAM92A1P2	403315	broad.mit.edu	37	4	183959036	183959036	+	RNA	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr4:183959036G>C	ENST00000502308.1	+	0	219					NR_003612.1																						CCTATGTGCGGAAAACTGCCA	0.498000													4	10					0	0	0.000602	0	0
OR2T2	401992	broad.mit.edu	37	1	248616356	248616356	+	Silent	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:248616356C>G	ENST00000342927.3	+	1	280	c.258C>G	c.(256-258)ctC>ctG	p.L86L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L86L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			TCCAGGACCTCCTGTCCAAGG	0.532000													7	227					0	0	0.014323	0	0
SSX3	10214	broad.mit.edu	37	X	48213500	48213500	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chrX:48213500G>T	ENST00000298396.2	-	4	266	c.214C>A	c.(214-216)Cgt>Agt	p.R72S	SSX3_ENST00000376893.3_Missense_Mutation_p.R72S	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	72	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.R72S(2)		endometrium(3)|large_intestine(1)|lung(9)	13						CGTTTATTACGCATGAAAGAT	0.478000													12	177					6.81908e-15	8.8648e-15	0.002450	1	0
ZBBX	79740	broad.mit.edu	37	3	167035342	167035342	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:167035342G>T	ENST00000392766.2	-	13	1367	c.1027C>A	c.(1027-1029)Cca>Aca	p.P343T	ZBBX_ENST00000392767.2_Missense_Mutation_p.P343T|ZBBX_ENST00000455345.2_Missense_Mutation_p.P343T|ZBBX_ENST00000307529.5_Missense_Mutation_p.P343T|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.P314T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	343						intracellular	zinc ion binding	p.P343T(4)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTGGATGTGGGAACGTATCT	0.338000													14	107					0.00316338	0.00330717	0.003163	1	0
PKD1L2	114780	broad.mit.edu	37	16	81181823	81181823	+	RNA	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr16:81181823C>A	ENST00000525539.1	-	0	4892				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.W1631_D1632>CY(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCCCCGGTCCCATTTTCCAG	0.592000													7	41					3.09899e-07	3.4704e-07	0.004482	1	0
YTHDF2	51441	broad.mit.edu	37	1	29069062	29069062	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:29069062A>T	ENST00000373812.3	+	4	642	c.280A>T	c.(280-282)Aac>Tac	p.N94Y	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.N94Y|YTHDF2_ENST00000541996.1_Missense_Mutation_p.N44Y	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	94					humoral immune response			p.N94Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGCTGAGCAACGGAGAGCC	0.512000													29	173					0	0	0.013726	0	0
FCGR3B	2215	broad.mit.edu	37	1	161599655	161599655	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:161599655C>A	ENST00000294800.3	-	3	505	c.232G>T	c.(232-234)Gct>Tct	p.A78S	FCGR3B_ENST00000531221.1_Missense_Mutation_p.A114S|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.A78S|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000367960.5_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	78	Ig-like C2-type 1.		A -> D (in allele SH; dbSNP:rs5030738).		immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	p.A78S(1)|p.A78T(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTGTGGCAGCGTCAATGAAG	0.532000													25	136					1.56442e-22	2.14569e-22	0.012213	1	0
CCT5	22948	broad.mit.edu	37	5	10258364	10258364	+	Silent	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:10258364G>C	ENST00000280326.4	+	5	1092	c.672G>C	c.(670-672)ctG>ctC	p.L224L	CCT5_ENST00000503026.1_Silent_p.L203L|CCT5_ENST00000506600.1_Silent_p.L131L|CCT5_ENST00000515676.1_Silent_p.L186L|CCT5_ENST00000515390.1_Silent_p.L169L	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	224					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	p.L224L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ACACTAAACTGATTAAGGGCG	0.483000													4	67					0	0	0.009096	0	0
ITGA7	3679	broad.mit.edu	37	12	56096921	56096921	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:56096921T>A	ENST00000257880.7	-	2	467	c.248A>T	c.(247-249)cAg>cTg	p.Q83L	ITGA7_ENST00000553804.1_Missense_Mutation_p.Q83L|ITGA7_ENST00000394229.2_Missense_Mutation_p.Q83L|ITGA7_ENST00000452168.2_Intron|ITGA7_ENST00000394230.2_Missense_Mutation_p.Q83L|ITGA7_ENST00000347027.6_Missense_Mutation_p.Q83L|ITGA7_ENST00000555728.1_Missense_Mutation_p.Q83L|ITGA7_ENST00000257879.6_Missense_Mutation_p.Q83L			Q13683	ITA7_HUMAN	integrin, alpha 7	83					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.Q83L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATTCGCCTGCTGCCCAGGAAG	0.627000													69	62					0	0	0.014410	0	0
TBL3	10607	broad.mit.edu	37	16	2025660	2025660	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr16:2025660C>T	ENST00000568546.1	+	10	1064	c.936C>T	c.(934-936)gcC>gcT	p.A312A		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	312					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	p.A312A(1)		breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CCGCCACCGCCGACCACAACC	0.697000													5	35					0	0	0.001984	0	0
CCT5	22948	broad.mit.edu	37	5	10258621	10258621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:10258621G>T	ENST00000280326.4	+	6	1267	c.847G>T	c.(847-849)Gag>Tag	p.E283*	CCT5_ENST00000503026.1_Nonsense_Mutation_p.E262*|CCT5_ENST00000506600.1_Nonsense_Mutation_p.E190*|CCT5_ENST00000515676.1_Nonsense_Mutation_p.E245*|CCT5_ENST00000515390.1_Nonsense_Mutation_p.E228*	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	283					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	p.E283*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ATACGAAAAGGAGAAATTTGA	0.373000													23	101					1.10513e-12	1.39424e-12	0.014323	1	0
ABCB7	22	broad.mit.edu	37	X	74295224	74295224	+	Silent	SNP	A	A	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chrX:74295224A>G	ENST00000253577.3	-	6	855	c.831T>C	c.(829-831)ttT>ttC	p.F277F	ABCB7_ENST00000373394.3_Silent_p.F276F|ABCB7_ENST00000339447.4_Silent_p.F236F	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	276	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	p.F277F(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GCATCACTTCAAACATGATGG	0.363000													9	151					0	0	0.008291	0	0
OR10K2	391107	broad.mit.edu	37	1	158389737	158389737	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:158389737C>A	ENST00000314902.2	-	1	919	c.920G>T	c.(919-921)aGa>aTa	p.R307I		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R307I(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGAAATTGTTCTTCTCACAAT	0.373000													25	55					2.27525e-19	3.03706e-19	0.003954	1	0
GLRA2	2742	broad.mit.edu	37	X	14748448	14748448	+	Silent	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chrX:14748448G>A	ENST00000218075.4	+	9	1730	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	GLRA2_ENST00000355020.4_Silent_p.P400P|GLRA2_ENST00000443437.2_Silent_p.P311P	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	400					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.P400P(3)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TCCCACAACCGCCAAAAGATG	0.483000													5	130					0	0	0.001168	0	0
MYADM	91663	broad.mit.edu	37	19	54377186	54377186	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:54377186G>C	ENST00000391769.2	+	3	683	c.403G>C	c.(403-405)Gac>Cac	p.D135H	MYADM_ENST00000336967.3_Missense_Mutation_p.D135H|MYADM_ENST00000391768.2_Missense_Mutation_p.D135H|MYADM_ENST00000391771.1_Missense_Mutation_p.D135H|MYADM_ENST00000391770.4_Missense_Mutation_p.D135H	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	135	MARVEL 1.					integral to membrane		p.D135H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CCGTTCGCGGGACCACGCCAT	0.662000													21	63					0	0	0.004656	0	0
PCLO	27445	broad.mit.edu	37	7	82387923	82387923	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:82387923T>A	ENST00000333891.8	-	25	15734	c.15397A>T	c.(15397-15399)Aaa>Taa	p.K5133*		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5056					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.K5133*(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACCAAAAGTTTGTGCCAGTTG	0.393000													28	187					0	0	0.010818	0	0
SCN10A	6336	broad.mit.edu	37	3	38830506	38830506	+	Silent	SNP	C	C	G	rs139793167		TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:38830506C>G	ENST00000449082.2	-	3	410	c.411G>C	c.(409-411)acG>acC	p.T137T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	137					sensory perception	voltage-gated sodium channel complex		p.T137T(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAATAGTGACCGTAATAAATA	0.398000													14	54					0	0	0.003163	0	0
CASP8	841	broad.mit.edu	37	2	202149749	202149749	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:202149749C>G	ENST00000358485.4	+	8	1386	c.1190C>G	c.(1189-1191)tCt>tGt	p.S397C	CASP8_ENST00000432109.2_Missense_Mutation_p.S338C|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Missense_Mutation_p.S323C|CASP8_ENST00000264274.9_Missense_Mutation_p.S254C|CASP8_ENST00000264275.5_Missense_Mutation_p.S355C	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	338					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.S355C(2)|p.S397C(1)|p.S355F(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAGCTGACATCTCAGTTCACT	0.478000										HNSCC(4;0.00038)			33	181					0	0	0.005524	0	0
TRAK1	22906	broad.mit.edu	37	3	42264897	42264897	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:42264897G>T	ENST00000327628.5	+	16	2930	c.2530G>T	c.(2530-2532)Gtg>Ttg	p.V844L	TRAK1_ENST00000396175.1_Missense_Mutation_p.V786L|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	844					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		p.V786L(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTCAACCTCGTGGACAAAGT	0.612000													8	47					5.4927e-09	6.44046e-09	0.004482	1	0
MED12	9968	broad.mit.edu	37	X	70349021	70349021	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chrX:70349021A>G	ENST00000333646.6	+	25	3732	c.3533A>G	c.(3532-3534)cAc>cGc	p.H1178R	MED12_ENST00000374080.3_Missense_Mutation_p.H1178R|MED12_ENST00000374102.1_Missense_Mutation_p.H1178R	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1178					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	p.H1178R(2)		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)					ATCCTCCTTCACCTTTTCAAG	0.512000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	405					0	0	0.004990	0	0
GAB4	128954	broad.mit.edu	37	22	17472980	17472980	+	Silent	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr22:17472980G>T	ENST00000400588.1	-	2	368	c.261C>A	c.(259-261)tcC>tcA	p.S87S	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	87	PH.							p.S87S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGGGCTTCTTGGAGCCATCAT	0.502000													53	240					2.27459e-33	3.23859e-33	0.014410	1	0
SECISBP2	79048	broad.mit.edu	37	9	91943573	91943573	+	Splice_Site	SNP	A	A	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr9:91943573A>T	ENST00000375807.3	+	5	645		c.e5-1		SECISBP2_ENST00000534113.2_Splice_Site|SECISBP2_ENST00000339901.4_Splice_Site|SECISBP2_ENST00000470305.1_Splice_Site	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2						translation	nucleus	mRNA 3'-UTR binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TTGTAATTACAGATGGTTACC	0.343000													8	63					0	0	0.003080	0	0
MUC7	4589	broad.mit.edu	37	4	71346522	71346522	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr4:71346522G>T	ENST00000413702.1	+	4	349	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Nonsense_Mutation_p.E21*|MUC7_ENST00000304887.5_Nonsense_Mutation_p.E21*	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	21						extracellular region	protein binding	p.E21*(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			gcagTTCAGTGAAGGTCGAGA	0.403000													34	154					4.34311e-12	5.43343e-12	0.003271	1	0
ZNF263	10127	broad.mit.edu	37	16	3340426	3340426	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr16:3340426C>G	ENST00000219069.5	+	6	2796	c.1920C>G	c.(1918-1920)ttC>ttG	p.F640L	ZNF263_ENST00000538765.1_Missense_Mutation_p.F288L	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	640					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F640L(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GAGACAGCTTCTCTCACAGCT	0.478000													15	125					0	0	0.004007	0	0
DNAH17	8632	broad.mit.edu	37	17	76497900	76497900	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:76497900T>C	ENST00000389840.5	-	34	5337	c.5213A>G	c.(5212-5214)gAc>gGc	p.D1738G	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.D1746G					dynein, axonemal, heavy chain 17									p.D1746G(1)		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)			CTTCATCCTGTCGCCAGCGTT	0.597000													29	143					0	0	0.003271	0	0
SOGA1	140710	broad.mit.edu	37	20	35433300	35433300	+	Silent	SNP	A	A	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr20:35433300A>G	ENST00000237536.4	-	10	3266	c.2925T>C	c.(2923-2925)aaT>aaC	p.N975N	SOGA1_ENST00000357779.3_Silent_p.N737N|SOGA1_ENST00000456801.2_Silent_p.N578N|SOGA1_ENST00000279034.5_Silent_p.N737N	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	737								p.N975N(3)|p.N737N(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TGATGTACTCATTGGGCTGCA	0.577000													8	49					0	0	0.006214	0	0
BLZF1	8548	broad.mit.edu	37	1	169356319	169356319	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:169356319G>T	ENST00000367808.3	+	7	1525	c.1102G>T	c.(1102-1104)Gct>Tct	p.A368S	BLZF1_ENST00000329281.2_Missense_Mutation_p.A368S			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	368				A -> V (in Ref. 2; AAG37822).	cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	p.A368S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CACCTTACTTGCTACAAAGAA	0.358000													34	93					7.04047e-22	9.56864e-22	0.005524	1	0
RILP	83547	broad.mit.edu	37	17	1549747	1549747	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:1549747G>A	ENST00000301336.6	-	8	1467	c.1195C>T	c.(1195-1197)Cca>Tca	p.P399S		NM_031430.2	NP_113618.2	Q96NA2	RILP_HUMAN	Rab interacting lysosomal protein	399					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding	p.P399S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGGCCTCTGGGGCGGCTGAG	0.637000													38	76					0	0	0.014410	0	0
PLEC	5339	broad.mit.edu	37	8	144992968	144992968	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr8:144992968C>T	ENST00000322810.4	-	32	11601	c.11432G>A	c.(11431-11433)cGt>cAt	p.R3811H	PLEC_ENST00000354589.3_Missense_Mutation_p.R3674H|PLEC_ENST00000357649.2_Missense_Mutation_p.R3678H|PLEC_ENST00000345136.3_Missense_Mutation_p.R3674H|PLEC_ENST00000354958.2_Missense_Mutation_p.R3652H|PLEC_ENST00000398774.2_Missense_Mutation_p.R3642H|PLEC_ENST00000436759.2_Missense_Mutation_p.R3701H|PLEC_ENST00000356346.3_Missense_Mutation_p.R3660H|PLEC_ENST00000527096.1_Missense_Mutation_p.R3697H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3811	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.R3811H(1)|p.R3674H(1)|p.R3701H(1)		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						GAGAGCCTCACGGAGGCTCCT	0.652000													8	60					0	0	0.006214	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786748	19786748	+	Silent	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr9:19786748G>T	ENST00000341998.2	-	1	178	c.117C>A	c.(115-117)gtC>gtA	p.V39V	SLC24A2_ENST00000286344.3_Silent_p.V39V	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	39					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.V39V(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AAAGGCCTAAGACTCGAATTA	0.448000													26	98					7.41945e-09	8.66569e-09	0.005443	1	0
CDC5L	988	broad.mit.edu	37	6	44371578	44371578	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr6:44371578T>G	ENST00000371477.3	+	6	871	c.572T>G	c.(571-573)cTt>cGt	p.L191R		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	191					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	p.L191R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAAGAGAACTTCGAGCAGCT	0.383000													14	65					0	0	0.004990	0	0
OR5W2	390148	broad.mit.edu	37	11	55681268	55681268	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:55681268G>A	ENST00000344514.1	-	1	790	c.791C>T	c.(790-792)tCt>tTt	p.S264F		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S264F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAATAGGAAGAACTTGGCCG	0.448000													20	62					0	0	0.003954	0	0
TBCE	6905	broad.mit.edu	37	1	235600787	235600787	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:235600787G>T	ENST00000543662.1	+	13	1373	c.1267G>T	c.(1267-1269)Gag>Tag	p.E423*	TBCE_ENST00000406207.1_Nonsense_Mutation_p.E372*|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Nonsense_Mutation_p.E372*			Q15813	TBCE_HUMAN	tubulin folding cofactor E	372					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	p.E372*(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			GAACAAATGTGAGGTGAGCAC	0.493000													11	61					3.07112e-06	3.33914e-06	0.010729	1	0
PEX12	5193	broad.mit.edu	37	17	33904426	33904426	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:33904426G>C	ENST00000225873.4	-	2	918	c.311C>G	c.(310-312)gCt>gGt	p.A104G		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	104					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.A104G(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCAGCACTAGCCAATCTCTG	0.438000													19	369					0	0	0.010504	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99024633	99024633	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:99024633G>A	ENST00000453547.2	-	3	352	c.353C>T	c.(352-354)aCg>aTg	p.T118M	ARHGAP19_ENST00000358531.4_Missense_Mutation_p.T118M|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.T109M|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.T118M|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.T109M|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.T118M														p.T118M(1)									GCCTTCCTCCGTCAGTGGGGA	0.343000													7	98					0	0	0.003080	0	0
GAS7	8522	broad.mit.edu	37	17	9850262	9850262	+	Silent	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:9850262C>G	ENST00000396115.1	-	6	694	c.384G>C	c.(382-384)ccG>ccC	p.P128P	GAS7_ENST00000579158.1_Silent_p.P140P|GAS7_ENST00000542249.1_Silent_p.P133P|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000580865.1_Silent_p.P48P|GAS7_ENST00000585266.1_Silent_p.P124P|GAS7_ENST00000583882.1_Silent_p.P48P|GAS7_ENST00000323816.4_Silent_p.P124P|GAS7_ENST00000437099.2_Silent_p.P124P|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000432992.2_Silent_p.P188P	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	188					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	p.P188P(2)|p.P48P(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCTGCTGTTCCGGCATCGTGT	0.572000			T	MLL	AML*								21	34					0	0	0.004656	0	0
NOL4	8715	broad.mit.edu	37	18	31538324	31538324	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr18:31538324C>G	ENST00000261592.5	-	7	1412	c.1115G>C	c.(1114-1116)gGa>gCa	p.G372A	NOL4_ENST00000535475.1_Missense_Mutation_p.G217A|NOL4_ENST00000269185.4_Missense_Mutation_p.G258A|NOL4_ENST00000589544.1_Missense_Mutation_p.G372A|NOL4_ENST00000535384.1_Missense_Mutation_p.G87A|NOL4_ENST00000538587.1_Missense_Mutation_p.G298A	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	372						nucleolus	RNA binding	p.G372A(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GTCCTCAGCTCCTCGGTCTAC	0.463000													56	219					0	0	0.014410	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430832	37430832	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:37430832C>G	ENST00000374660.1	+	7	938	c.839C>G	c.(838-840)tCt>tGt	p.S280C	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S280C|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S280C			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	336						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S280C(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGGGAACATCTGACAAAATT	0.468000													18	70					0	0	0.008871	0	0
RP11-287D1.3	0	broad.mit.edu	37	2	74590188	74590188	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:74590188C>A	ENST00000451608.2	-	2	200	c.201G>T	c.(199-201)caG>caT	p.Q67H	DCTN1_ENST00000361874.3_Missense_Mutation_p.Q1154H|DCTN1_ENST00000409868.1_Missense_Mutation_p.Q1132H|DCTN1_ENST00000409567.3_Missense_Mutation_p.Q1129H|DCTN1_ENST00000409240.1_Missense_Mutation_p.Q1112H|DCTN1_ENST00000394003.3_Missense_Mutation_p.Q1147H|DCTN1_ENST00000407639.2_Missense_Mutation_p.Q1020H|DCTN1_ENST00000409438.1_Missense_Mutation_p.Q1015H														p.Q1154L(1)									TCTCCAGCAGCTGGCTGGTCT	0.537000													25	55					7.92952e-12	9.83787e-12	0.003954	1	0
CCDC136	64753	broad.mit.edu	37	7	128454821	128454821	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:128454821C>G	ENST00000297788.4	+	15	3260	c.2893C>G	c.(2893-2895)Cgc>Ggc	p.R965G	CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	965						integral to membrane	protein binding	p.R965G(2)|p.R1081G(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GGAGGAGCTCCGCCAGCTCAG	0.547000													10	25					0	0	0.001855	0	0
OC90	729330	broad.mit.edu	37	8	133036873	133036873	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr8:133036873T>C	ENST00000262283.5	-	18	2024	c.1925A>G	c.(1924-1926)cAc>cGc	p.H642R	OC90_ENST00000603859.1_Missense_Mutation_p.H430R|OC90_ENST00000443356.2_Missense_Mutation_p.H446R|OC90_ENST00000254627.3_Missense_Mutation_p.H430R			Q02509	OC90_HUMAN	otoconin 90	446					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.H642R(1)|p.H404R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGGCACAGGGTGCAGGCTGTC	0.647000													11	16					0	0	0.002450	0	0
TET2	54790	broad.mit.edu	37	4	106156700	106156700	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr4:106156700G>C	ENST00000540549.1	+	3	2461	c.1601G>C	c.(1600-1602)aGa>aCa	p.R534T	TET2_ENST00000305737.2_Missense_Mutation_p.R534T|TET2_ENST00000545826.1_Missense_Mutation_p.R534T|TET2_ENST00000394764.1_Missense_Mutation_p.R534T|TET2_ENST00000413648.2_Missense_Mutation_p.R534T|TET2_ENST00000380013.4_Missense_Mutation_p.R534T|TET2_ENST00000513237.1_Missense_Mutation_p.R555T			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	534					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R534T(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAGTTGATGAGAAACAAAGAG	0.458000			"""Mis N, F"""		MDS								19	59					0	0	0.007413	0	0
TRBC2	28638	broad.mit.edu	37	7	142498940	142498940	+	RNA	SNP	A	A	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:142498940A>G	ENST00000466254.1	+	0	216																											CAATGACTCCAGATACTGCCT	0.632000													6	119					0	0	0.001984	0	0
SEMA4F	10505	broad.mit.edu	37	2	74903002	74903002	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:74903002G>T	ENST00000357877.2	+	12	1758	c.1609G>T	c.(1609-1611)Gat>Tat	p.D537Y	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.D382Y	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	537	PSI.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	p.D537Y(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTTCCGGCTGGATGAGTGTGT	0.582000													28	73					1.08312e-15	1.42041e-15	0.009535	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803192	185803192	+	Silent	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:185803192C>A	ENST00000302277.6	+	4	3663	c.3069C>A	c.(3067-3069)atC>atA	p.I1023I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1023						intracellular	zinc ion binding	p.I1023I(1)		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						CTGAGCAAATCCTGGCTCCAT	0.413000													46	146					8.72198e-27	1.20735e-26	0.014410	1	0
STK11	6794	broad.mit.edu	37	19	1220434	1220434	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:1220434A>C	ENST00000326873.7	+	4	1700	c.527A>C	c.(526-528)gAc>gCc	p.D176A		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	176	Protein kinase.		D -> Y (in sporadic cancer; somatic mutation; Loss of kinase activity).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.D176A(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCACAAGGACATCAAGCCG	0.657000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			4	14					0	0	0.000602	0	0
FAM76A	199870	broad.mit.edu	37	1	28081716	28081716	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:28081716G>T	ENST00000373954.6	+	7	712	c.610G>T	c.(610-612)Gac>Tac	p.D204Y	FAM76A_ENST00000010299.6_Missense_Mutation_p.D238Y|FAM76A_ENST00000419687.2_Missense_Mutation_p.D124Y|FAM76A_ENST00000373949.1_Missense_Mutation_p.D175Y|FAM76A_ENST00000530324.1_Missense_Mutation_p.D204Y|FAM76A_ENST00000234549.7_Missense_Mutation_p.D209Y	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	204								p.D204Y(1)		endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTCCCCAGACCTGGCTCT	0.438000													26	158					4.87955e-14	6.26175e-14	0.005443	1	0
SPTA1	6708	broad.mit.edu	37	1	158654955	158654955	+	Silent	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:158654955G>T	ENST00000368148.3	-	2	387	c.207C>A	c.(205-207)atC>atA	p.I69I	SPTA1_ENST00000368147.3_Silent_p.I69I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	69					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.I69I(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTTCTCCATGATCCACTtcc	0.448000													13	91					5.50884e-06	5.96791e-06	0.013537	1	0
PCDHGA11	56105	broad.mit.edu	37	5	140802658	140802658	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:140802658G>A	ENST00000398587.2	+	1	1897	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.E622K|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.E622K(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTGGGGGAGCACACGGG	0.667000													7	66					0	0	0.006214	0	0
RPA4	29935	broad.mit.edu	37	X	96139803	96139803	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chrX:96139803A>T	ENST00000373040.3	+	1	897	c.494A>T	c.(493-495)cAc>cTc	p.H165L	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	165					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	p.H165L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GTCAATGCACACATGATGCTG	0.473000								Other identified genes with known or suspected DNA repair function					18	75					0	0	0.014323	0	0
OR10T2	128360	broad.mit.edu	37	1	158368421	158368421	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:158368421G>T	ENST00000334438.1	-	1	835	c.836C>A	c.(835-837)aCa>aAa	p.T279K		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T279K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGTAACCACTGTGTAGGTCAC	0.473000													5	35					0.000602214	0.000631797	0.000602	1	0
NAV2	89797	broad.mit.edu	37	11	20066788	20066788	+	Silent	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:20066788C>A	ENST00000396085.1	+	14	3835	c.3474C>A	c.(3472-3474)ctC>ctA	p.L1158L	NAV2_ENST00000396087.3_Silent_p.L1181L|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Silent_p.L1094L|NAV2_ENST00000540292.1_Silent_p.L1112L|NAV2_ENST00000533917.1_Silent_p.L244L|NAV2_ENST00000311043.8_Silent_p.L244L|NAV2_ENST00000349880.4_Silent_p.L1158L|NAV2_ENST00000527559.2_Silent_p.L1110L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1181						nucleus	ATP binding|helicase activity	p.L1181L(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CATCTGCACTCGTCAGTCGGT	0.582000													30	63					1.36615e-20	1.83174e-20	0.013726	1	0
ZNF318	24149	broad.mit.edu	37	6	43316154	43316154	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr6:43316154C>G	ENST00000361428.2	-	6	3057	c.2980G>C	c.(2980-2982)Gac>Cac	p.D994H	ZNF318_ENST00000318149.3_Missense_Mutation_p.D994H	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	994					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.D994H(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTCTACTGTCACTTAAAGAC	0.438000													6	392					0	0	0.001984	0	0
DNAH9	1770	broad.mit.edu	37	17	11757475	11757475	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:11757475C>T	ENST00000262442.3	+	50	9731	c.9663C>T	c.(9661-9663)ttC>ttT	p.F3221F	DNAH9_ENST00000454412.2_Silent_p.F3221F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3221	Stalk (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	p.F3221F(1)		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)		TGGATGGCTTCCTGGACTCGC	0.542000													25	70					0	0	0.005443	0	0
CDH12	1010	broad.mit.edu	37	5	21752001	21752001	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:21752001T>A	ENST00000382254.1	-	15	3316	c.2230A>T	c.(2230-2232)Agt>Tgt	p.S744C	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.S744C|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.S704C	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	744					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S744C(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACGGACCCACTCCCTTCGTAG	0.507000										HNSCC(59;0.17)			12	120					0	0	0.004007	0	0
SLC4A2	6522	broad.mit.edu	37	7	150773267	150773267	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:150773267G>A	ENST00000485713.1	+	22	4679	c.3639G>A	c.(3637-3639)atG>atA	p.M1213I	SLC4A2_ENST00000461735.1_Missense_Mutation_p.M1199I|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000392826.2_Missense_Mutation_p.M1204I|SLC4A2_ENST00000310317.5_Missense_Mutation_p.M1131I|SLC4A2_ENST00000413384.2_Missense_Mutation_p.M1213I	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1213	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	p.M1213I(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCGAGAGATGAAATGTGTAA	0.617000													27	174					0	0	0.013726	0	0
TRAPPC2L	51693	broad.mit.edu	37	16	88926026	88926026	+	Silent	SNP	C	C	T	rs3826063	by1000genomes	TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr16:88926026C>T	ENST00000561840.1	+	3	210	c.132C>T	c.(130-132)acC>acT	p.T44T	TRAPPC2L_ENST00000564365.1_5'UTR|TRAPPC2L_ENST00000301021.3_Intron|TRAPPC2L_ENST00000565504.1_Intron|TRAPPC2L_ENST00000567312.1_Intron|TRAPPC2L_ENST00000568583.1_Intron|TRAPPC2L_ENST00000567895.1_Intron			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	0					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GGCCCTCCACCGGCAGTCCCT	0.567000													11	63					0	0	0.008291	0	0
NKD1	85407	broad.mit.edu	37	16	50664759	50664759	+	Silent	SNP	A	A	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr16:50664759A>C	ENST00000268459.3	+	8	857	c.633A>C	c.(631-633)cgA>cgC	p.R211R		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	211					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	p.R211R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAAGGCCCCGAGCAGAGACCA	0.647000													4	21					0	0	0.003080	0	0
ATM	472	broad.mit.edu	37	11	108206578	108206578	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:108206578G>C	ENST00000278616.4	+	56	8543	c.8158G>C	c.(8158-8160)Gat>Cat	p.D2720H	ATM_ENST00000452508.2_Missense_Mutation_p.D2720H|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2720	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.D2720N(2)|p.D2720H(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAAGGGCCGTGATGACCTGAG	0.373000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			5	46					0	0	0.001984	0	0
NDE1	54820	broad.mit.edu	37	16	15771720	15771720	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr16:15771720C>T	ENST00000396355.1	+	5	1126	c.300C>T	c.(298-300)ctC>ctT	p.L100L	NDE1_ENST00000396353.2_Silent_p.L100L|NDE1_ENST00000396354.1_Silent_p.L100L|NDE1_ENST00000342673.5_Silent_p.L100L	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	100	Interaction with PAFAH1B1 (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding	p.L100L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AGGATGACCTCGCGCAGACCA	0.498000													24	72					0	0	0.014323	0	0
EFCAB1	79645	broad.mit.edu	37	8	49647699	49647699	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr8:49647699C>T	ENST00000433756.1	-	1	171	c.12G>A	c.(10-12)aaG>aaA	p.K4K	EFCAB1_ENST00000523092.1_Silent_p.K4K|EFCAB1_ENST00000262103.3_Silent_p.K4K|EFCAB1_ENST00000521002.1_5'UTR	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	4							calcium ion binding	p.K4K(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCTGCAGTTTCTTGCGGTTCA	0.622000													21	152					0	0	0.003330	0	0
SEMA3G	56920	broad.mit.edu	37	3	52470040	52470040	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:52470040C>A	ENST00000231721.2	-	16	1927	c.1928G>T	c.(1927-1929)cGc>cTc	p.R643L		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	643	Ig-like C2-type.				multicellular organismal development	extracellular region|membrane	receptor activity	p.R643L(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCTAAGCCTGCGGAACAGCAG	0.637000													8	39					3.09899e-07	3.4704e-07	0.004482	1	0
FUS	2521	broad.mit.edu	37	16	31202719	31202719	+	Splice_Site	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr16:31202719G>T	ENST00000254108.7	+	15	1646		c.e15-1		FUS_ENST00000380244.3_Splice_Site|FUS_ENST00000568685.1_Splice_Site	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma						cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	p.R514M(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		tttttttGCAGGGGTGAGCAC	0.468000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								21	80					4.47668e-21	6.0294e-21	0.003954	1	0
SALL4	57167	broad.mit.edu	37	20	50408823	50408823	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr20:50408823G>A	ENST00000217086.4	-	2	310	c.199C>T	c.(199-201)Cgt>Tgt	p.R67C	SALL4_ENST00000395997.3_Missense_Mutation_p.R67C|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'UTR	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	67					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R67C(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTCCCGACGAAGCCGCTTT	0.498000													17	62					0	0	0.010504	0	0
ZNF177	7730	broad.mit.edu	37	19	9491726	9491726	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:9491726T>A	ENST00000434737.2	+	5	775	c.719T>A	c.(718-720)aTa>aAa	p.I240K	ZNF177_ENST00000343499.4_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000589262.1_Missense_Mutation_p.I240K|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000446085.4_3'UTR			Q13360	ZN177_HUMAN	zinc finger protein 177	244					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I240K(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						TATGGCAAAATATCTCCCCTT	0.443000													10	24					0	0	0.006214	0	0
PCNP	57092	broad.mit.edu	37	3	101298713	101298713	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:101298713C>A	ENST00000265260.3	+	2	265	c.144C>A	c.(142-144)agC>agA	p.S48R	PCNP_ENST00000486406.1_Intron|PCNP_ENST00000296024.5_Missense_Mutation_p.S48R|PCNP_ENST00000469941.1_Intron	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	48					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding	p.S48R(1)		large_intestine(1)|lung(1)	2						CCAGTCGCAGCGCTGAGAAGC	0.463000													29	69					9.39395e-14	1.19523e-13	0.006320	1	0
NPC1L1	29881	broad.mit.edu	37	7	44553237	44553237	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:44553237T>A	ENST00000289547.4	-	20	3944	c.3889A>T	c.(3889-3891)Aac>Tac	p.N1297Y	NPC1L1_ENST00000381160.3_Missense_Mutation_p.N1270Y|NPC1L1_ENST00000546276.1_Missense_Mutation_p.N1224Y	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1297					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.N1297Y(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGAGCCGGGTTAACGTCAGGC	0.607000													28	86					0	0	0.013726	0	0
CPT1A	1374	broad.mit.edu	37	11	68566823	68566823	+	Splice_Site	SNP	A	A	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:68566823A>G	ENST00000265641.5	-	6	710	c.555_splice	c.e6-1	p.Y186_splice	CPT1A_ENST00000540367.1_Splice_Site_p.Y186_splice|CPT1A_ENST00000376618.2_Splice_Site_p.Y186_splice|CPT1A_ENST00000539743.1_Splice_Site_p.Y186_splice	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	186					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.Y186H(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GACTGTAGATACTGGGATTAT	0.408000													3	107					0	0	0.009096	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37422904	37422904	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:37422904G>T	ENST00000374660.1	+	5	609	c.510G>T	c.(508-510)caG>caT	p.Q170H	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q170H|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q170H			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	226						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q170H(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCTTCTTCAGCAAAATGTTG	0.383000													75	215					4.18771e-30	5.93425e-30	0.014410	1	0
CD93	22918	broad.mit.edu	37	20	23066668	23066668	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr20:23066668G>T	ENST00000246006.4	-	1	309	c.162C>A	c.(160-162)aaC>aaA	p.N54K		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	54	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.N54K(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCCCGTTCTGGTTGCAGTGGT	0.692000													4	17					1.23904e-05	1.33264e-05	0.000602	1	0
PLA2G3	50487	broad.mit.edu	37	22	31536292	31536292	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr22:31536292C>G	ENST00000215885.3	-	1	301	c.49G>C	c.(49-51)Gcc>Ccc	p.A17P		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	17					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	p.A17P(2)		large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCCCCCAGGGCCACCCCCAGG	0.662000													13	70					0	0	0.002450	0	0
CCDC82	79780	broad.mit.edu	37	11	96117783	96117783	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:96117783C>A	ENST00000278520.5	-	3	557	c.129G>T	c.(127-129)gaG>gaT	p.E43D	CCDC82_ENST00000423339.2_Missense_Mutation_p.E43D|CCDC82_ENST00000542662.1_Missense_Mutation_p.E43D			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	43							protein binding	p.E43D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CACTATCAAGCTCTTCATCAC	0.368000													9	45					4.68919e-08	5.37191e-08	0.008291	1	0
ANK3	288	broad.mit.edu	37	10	61833291	61833291	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:61833291C>T	ENST00000280772.1	-	37	7539	c.7348G>A	c.(7348-7350)Gac>Aac	p.D2450N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2450					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.D2450N(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AACTCATCGTCATGGTATTCT	0.408000													18	128					0	0	0.012319	0	0
BAZ2A	11176	broad.mit.edu	37	12	56992465	56992465	+	Silent	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:56992465G>A	ENST00000179765.5	-	30	5758	c.5559C>T	c.(5557-5559)atC>atT	p.I1853I	BAZ2A_ENST00000379441.3_Silent_p.I1855I|BAZ2A_ENST00000551812.1_Silent_p.I1885I|BAZ2A_ENST00000549884.1_Silent_p.I1883I			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1885	Bromo.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	p.I1885I(2)|p.I1921I(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGCGGCGCATGATGTGCCCAG	0.557000													7	45					0	0	0.003080	0	0
KIF24	347240	broad.mit.edu	37	9	34255858	34255858	+	Silent	SNP	T	T	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr9:34255858T>C	ENST00000379166.2	-	11	3866	c.3747A>G	c.(3745-3747)gaA>gaG	p.E1249E	KIF24_ENST00000379174.3_Silent_p.E1115E|KIF24_ENST00000345050.2_Silent_p.E1115E|KIF24_ENST00000402558.2_Silent_p.E1249E	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1249					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E731E(1)|p.E1249E(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATGTGACATTTTCACTGTTGC	0.547000											OREG0019148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	48					0	0	0.008871	0	0
ZNF681	148213	broad.mit.edu	37	19	23927473	23927473	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:23927473C>T	ENST00000402377.3	-	4	1020	c.879G>A	c.(877-879)caG>caA	p.Q293Q	ZNF681_ENST00000395385.3_Silent_p.Q224Q	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q224Q(1)|p.Q293Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GGGTTAAGGACTGATTAAAGG	0.383000													26	61					0	0	0.010818	0	0
QDPR	5860	broad.mit.edu	37	4	17506088	17506088	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr4:17506088T>A	ENST00000281243.5	-	3	388	c.209A>T	c.(208-210)gAg>gTg	p.E70V	QDPR_ENST00000428702.2_Missense_Mutation_p.E39V|QDPR_ENST00000513615.1_Missense_Mutation_p.E70V|QDPR_ENST00000508623.1_Missense_Mutation_p.E70V	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	70					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity	p.E70V(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	CTTTCCAACCTCAGCAGTCAC	0.453000													31	56					0	0	0.012213	0	0
KIAA2018	205717	broad.mit.edu	37	3	113389016	113389016	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:113389016C>T	ENST00000316407.4	-	5	521	c.111G>A	c.(109-111)ggG>ggA	p.G37G	KIAA2018_ENST00000491165.1_Silent_p.G37G|KIAA2018_ENST00000478658.1_Silent_p.G37G	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	37	Helix-loop-helix motif.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.G37G(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTCTGTTTATCCCAGCATTAA	0.398000													18	62					0	0	0.010504	0	0
RYR1	6261	broad.mit.edu	37	19	39076591	39076591	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:39076591C>A	ENST00000355481.4	+	102	14933	c.14802C>A	c.(14800-14802)gaC>gaA	p.D4934E	RYR1_ENST00000360985.3_Missense_Mutation_p.D4934E|RYR1_ENST00000359596.3_Missense_Mutation_p.D4939E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4939					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.D4939E(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)	TGATCATCGACGCTTTTGGTG	0.587000													21	102					6.21321e-17	8.25667e-17	0.002780	1	0
KLRD1	3824	broad.mit.edu	37	12	10462245	10462245	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:10462245G>A	ENST00000381908.3	+	3	381	c.121G>A	c.(121-123)Gag>Aag	p.E41K	KLRD1_ENST00000543777.1_Intron|KLRD1_ENST00000350274.5_Missense_Mutation_p.E10K|KLRD1_ENST00000538997.1_3'UTR|KLRD1_ENST00000543420.1_Missense_Mutation_p.E41K|KLRD1_ENST00000381907.4_Missense_Mutation_p.E41K|KLRD1_ENST00000336164.4_Missense_Mutation_p.E41K			Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	41					cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	p.E41K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						ACTGAGTATTGAGCCAGCATT	0.313000													21	41					0	0	0.002780	0	0
CDH23	64072	broad.mit.edu	37	10	73434908	73434908	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:73434908T>C	ENST00000224721.6	+	14	1509	c.1504T>C	c.(1504-1506)Tac>Cac	p.Y502H	CDH23_ENST00000299366.7_Missense_Mutation_p.Y542H	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	497	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.Y502H(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAAGTCAGCTACTTCTTCAG	0.577000													6	39					0	0	0.006214	0	0
C10orf107	219621	broad.mit.edu	37	10	63450314	63450314	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:63450314C>G	ENST00000330194.2	+	4	528	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	75								p.Q75*(1)|p.Q75E(1)		breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CAGCTTATTTCAACACTACAA	0.308000													5	78					0	0	0.001168	0	0
F5	2153	broad.mit.edu	37	1	169526011	169526011	+	Silent	SNP	G	G	T	rs144375278	by1000genomes	TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:169526011G>T	ENST00000367796.3	-	6	1026	c.825C>A	c.(823-825)gtC>gtA	p.V275V	F5_ENST00000546081.1_Silent_p.V138V|F5_ENST00000367797.3_Silent_p.V275V			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	275	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.V275V(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGCTCCAGGACCTGGCCGT	0.498000													14	51					2.31682e-05	2.4829e-05	0.003163	1	0
HSD17B14	51171	broad.mit.edu	37	19	49316528	49316528	+	Silent	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:49316528C>A	ENST00000263278.4	-	9	983	c.717G>T	c.(715-717)acG>acT	p.T239T	HSD17B14_ENST00000599157.1_Silent_p.T215T	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	239					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity	p.T239T(1)		large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GTTCAATGCCCGTGCAGAAGT	0.667000													4	7					2.56e-06	2.80381e-06	0.009096	1	0
TMED10	10972	broad.mit.edu	37	14	75643092	75643092	+	Missense_Mutation	SNP	G	G	A	rs4929		TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr14:75643092G>A	ENST00000303575.4	-	1	242	c.191C>T	c.(190-192)tCt>tTt	p.S64F		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	64	GOLD.		S -> Y (in dbSNP:rs4929).		protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	p.S64F(1)		endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		AGCGCCCCCAGACTGGTCGGA	0.652000													20	76					0	0	0.002780	0	0
AK5	26289	broad.mit.edu	37	1	77752671	77752671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:77752671G>T	ENST00000344720.5	+	2	1054	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Nonsense_Mutation_p.E36*	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	36				L -> M (in Ref. 5; AAH36666).	ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	p.E36*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGATCCAGTAGAATACTTGGA	0.363000													28	54					1.08312e-15	1.42041e-15	0.009535	1	0
NLRP10	338322	broad.mit.edu	37	11	7981504	7981504	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:7981504A>T	ENST00000328600.2	-	2	1816	c.1655T>A	c.(1654-1656)aTg>aAg	p.M552K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	552							ATP binding	p.M552K(1)		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)		CATAGATTCCATCTGTTCTTT	0.393000													20	59					0	0	0.010504	0	0
SDK2	54549	broad.mit.edu	37	17	71375670	71375670	+	Missense_Mutation	SNP	C	C	T	rs143525062		TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:71375670C>T	ENST00000392650.3	-	35	4781	c.4781G>A	c.(4780-4782)cGg>cAg	p.R1594Q	SDK2_ENST00000388726.3_Missense_Mutation_p.R1575Q	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1594	Fibronectin type-III 10.				cell adhesion	integral to membrane		p.R1594Q(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TATCTCGTACCGCCTGTGCTT	0.657000													15	35					0	0	0.004990	0	0
DDX27	55661	broad.mit.edu	37	20	47853035	47853035	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr20:47853035A>G	ENST00000371764.4	+	14	1777	c.1768A>G	c.(1768-1770)Ata>Gta	p.I590V	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	590	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.I590V(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGGCCAGGATACTTCCCCA	0.587000													10	73					0	0	0.008291	0	0
SNHG14	104472715	broad.mit.edu	37	15	25425541	25425541	+	RNA	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr15:25425541G>A	ENST00000441592.2	+	0	529																											CTGGTGAGCTGAAGCTCAGGC	0.627000													12	67					0	0	0.010729	0	0
DLG3	1741	broad.mit.edu	37	X	69720818	69720818	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chrX:69720818G>A	ENST00000194900.4	+	20	2763	c.2422G>A	c.(2422-2424)Gaa>Aaa	p.E808K	DLG3_ENST00000374360.3_Missense_Mutation_p.E776K|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000542398.1_Missense_Mutation_p.E325K|DLG3_ENST00000374355.3_Missense_Mutation_p.E471K			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	776					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.E776K(1)|p.E471K(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ACTGGAGCAGGAATTTGGAGA	0.448000													9	27					0	0	0.010729	0	0
ITGA8	8516	broad.mit.edu	37	10	15655663	15655663	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:15655663C>A	ENST00000378076.3	-	15	1902	c.1549G>T	c.(1549-1551)Gcc>Tcc	p.A517S		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	517					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.A517S(1)		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						ACTCACCAGGCAGCAGATGTC	0.438000													26	209					7.92952e-12	9.83787e-12	0.003954	1	0
RP11-287D1.3	0	broad.mit.edu	37	2	74590189	74590189	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:74590189T>A	ENST00000451608.2	-	2	199	c.200A>T	c.(199-201)cAg>cTg	p.Q67L	DCTN1_ENST00000361874.3_Missense_Mutation_p.Q1154L|DCTN1_ENST00000409868.1_Missense_Mutation_p.Q1132L|DCTN1_ENST00000409567.3_Missense_Mutation_p.Q1129L|DCTN1_ENST00000409240.1_Missense_Mutation_p.Q1112L|DCTN1_ENST00000394003.3_Missense_Mutation_p.Q1147L|DCTN1_ENST00000407639.2_Missense_Mutation_p.Q1020L|DCTN1_ENST00000409438.1_Missense_Mutation_p.Q1015L														p.Q1154L(1)									CTCCAGCAGCTGGCTGGTCTT	0.542000													26	55					0	0	0.004656	0	0
LTB4R	1241	broad.mit.edu	37	14	24785095	24785095	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr14:24785095C>G	ENST00000396789.4	+	2	1963	c.238C>G	c.(238-240)Caa>Gaa	p.Q80E	LTB4R_ENST00000345363.3_Missense_Mutation_p.Q80E|LTB4R_ENST00000396782.2_Missense_Mutation_p.Q80E	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	80					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	p.Q80E(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CTTCCTGGCCCAAGGCACCTG	0.587000													37	126					0	0	0.013114	0	0
TAGLN2	8407	broad.mit.edu	37	1	159890120	159890120	+	Splice_Site	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:159890120C>A	ENST00000368097.4	-	2	490	c.180_splice	c.e2+1	p.T60_splice	TAGLN2_ENST00000320307.4_Splice_Site_p.T60_splice|TAGLN2_ENST00000368096.1_Splice_Site_p.T81_splice|TAGLN2_ENST00000478033.1_5'UTR	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	60	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding	p.T60T(1)		endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGGCTCTCACCGTGCCATCCT	0.602000													9	65					3.07112e-06	3.33914e-06	0.010729	1	0
GDA	9615	broad.mit.edu	37	9	74764526	74764526	+	Silent	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr9:74764526C>T	ENST00000358399.3	+	1	144	c.51C>T	c.(49-51)ttC>ttT	p.F17F	GDA_ENST00000376986.1_5'UTR|GDA_ENST00000238018.4_Silent_p.F17F|GDA_ENST00000545168.1_Intron|GDA_ENST00000376989.3_5'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	17					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.F17F(4)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GAGGGACGTTCGTCCACTCCA	0.697000													13	25					0	0	0.007413	0	0
CCT5	22948	broad.mit.edu	37	5	10256185	10256185	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:10256185G>C	ENST00000280326.4	+	4	870	c.450G>C	c.(448-450)aaG>aaC	p.K150N	CCT5_ENST00000503026.1_Missense_Mutation_p.K129N|CCT5_ENST00000506600.1_Missense_Mutation_p.K57N|CCT5_ENST00000515676.1_Missense_Mutation_p.K112N|CCT5_ENST00000515390.1_Missense_Mutation_p.K95N	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	150					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	p.K150N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ACCTGGACAAGATCAGCGATA	0.488000													3	42					0	0	0.001168	0	0
NUBP2	10101	broad.mit.edu	37	16	1838029	1838029	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr16:1838029G>T	ENST00000262302.9	+	5	697	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C	NUBP2_ENST00000543305.1_Missense_Mutation_p.G52C|NUBP2_ENST00000565134.1_Missense_Mutation_p.G193C|NUBP2_ENST00000568706.1_Missense_Mutation_p.G52C|NUBP2_ENST00000565987.1_Missense_Mutation_p.G133C	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	193						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding	p.G193C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAATATGAGCGGCTTCACCTG	0.677000													23	80					1.22574e-08	1.42605e-08	0.014323	1	0
CDK5RAP3	80279	broad.mit.edu	37	17	46054189	46054189	+	Splice_Site	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:46054189G>A	ENST00000536708.2	+	9	1093		c.e9+1		CDK5RAP3_ENST00000338399.4_Splice_Site	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	p.?(1)		NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AGATTCAAAGGTGAGGAGGCC	0.502000													4	63					0	0	0.009096	0	0
COMMD4	54939	broad.mit.edu	37	15	75631620	75631620	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr15:75631620T>C	ENST00000267935.8	+	6	516	c.317T>C	c.(316-318)cTg>cCg	p.L106P	COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P|COMMD4_ENST00000562789.1_Missense_Mutation_p.L112P|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P|COMMD4_ENST00000567195.1_Intron	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	106						cytoplasm	protein binding	p.L106P(3)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GCGGCCAGCCTGTGCCGCTGT	0.622000													4	42					0	0	0.004482	0	0
KIF19	124602	broad.mit.edu	37	17	72350682	72350682	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:72350682A>T	ENST00000389916.4	+	18	2828	c.2690A>T	c.(2689-2691)gAg>gTg	p.E897V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	897					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E897V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CGATCCTTCGAGGTCACCGGG	0.642000													3	11					0	0	0.009096	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394778	233394778	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:233394778C>T	ENST00000258229.8	-	5	1064	c.830G>A	c.(829-831)gGg>gAg	p.G277E	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	277						integral to membrane		p.G277E(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATTCTCACTCCCCCACGGCTG	0.527000													3	69					0	0	0.004672	0	0
LIPG	9388	broad.mit.edu	37	18	47091826	47091826	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr18:47091826C>G	ENST00000261292.4	+	2	515	c.237C>G	c.(235-237)ttC>ttG	p.F79L	LIPG_ENST00000580036.1_Missense_Mutation_p.F79L|LIPG_ENST00000427224.2_Missense_Mutation_p.F79L|LIPG_ENST00000577628.1_Missense_Mutation_p.F115L	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	79					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.F79L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACTGCAGTTTCAACATGACAG	0.507000													7	91					0	0	0.008291	0	0
CENPE	1062	broad.mit.edu	37	4	104061004	104061004	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr4:104061004T>C	ENST00000265148.3	-	38	6235	c.6146A>G	c.(6145-6147)gAa>gGa	p.E2049G	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2049					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.E2049G(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTGAGAGATTCTTTTATCCT	0.353000													22	57					0	0	0.003954	0	0
SYT10	341359	broad.mit.edu	37	12	33592339	33592339	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:33592339C>T	ENST00000228567.3	-	1	415	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	40						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R40Q(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCCCCTGTCCCGAGGGAAGAT	0.682000													10	181					0	0	0.006214	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768714	140768714	+	Silent	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:140768714G>A	ENST00000519479.1	+	1	1263	c.1263G>A	c.(1261-1263)acG>acA	p.T421T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.T421T(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACCGTTACGGCAACAGATC	0.448000													20	135					0	0	0.014323	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70432107	70432107	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr16:70432107C>G	ENST00000393640.4	-	1	2434	c.327G>C	c.(325-327)caG>caC	p.Q109H	ST3GAL2_ENST00000342907.2_Missense_Mutation_p.Q109H|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	109					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.Q109H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TCCACCACCTCTGGACGTCCG	0.592000													6	60					0	0	0.003080	0	0
SLC30A2	7780	broad.mit.edu	37	1	26369043	26369043	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:26369043G>C	ENST00000374278.3	-	4	798	c.582C>G	c.(580-582)ttC>ttG	p.F194L	SLC30A2_ENST00000374276.3_Missense_Mutation_p.F243L	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	194					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	p.F243L(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGACCTTGAAGTATAAAA	0.542000													23	86					0	0	0.003954	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323171	61323171	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr18:61323171G>A	ENST00000283752.5	-	8	1036	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.T246M	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	298					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.T298M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GGTTCTCAACGTGTCCTTGAG	0.488000													25	79					0	0	0.003954	0	0
DGKE	8526	broad.mit.edu	37	17	54926178	54926178	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:54926178G>A	ENST00000284061.3	+	6	1190	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	337	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	p.R337Q(1)		breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CAGGTTTTGCGAAATGTAATG	0.408000													9	195					0	0	0.006214	0	0
SALL4	57167	broad.mit.edu	37	20	50407847	50407847	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr20:50407847C>A	ENST00000217086.4	-	2	1286	c.1175G>T	c.(1174-1176)gGg>gTg	p.G392V	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	392					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G392V(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTATCAGTCCCAAAAACCTT	0.562000													17	115					1.01871e-10	1.22821e-10	0.008871	1	0
UBBP4	23666	broad.mit.edu	37	17	21730835	21730835	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:21730835C>A	ENST00000584755.1	+	2	534	c.137C>A	c.(136-138)gCa>gAa	p.A46E	UBBP4_ENST00000578713.1_Missense_Mutation_p.A46E|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron														p.A46E(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CTCATCTTTGCAGGCAAGCAG	0.517000													14	30					7.93312e-07	8.81786e-07	0.002450	1	0
CSE1L	1434	broad.mit.edu	37	20	47682795	47682795	+	Silent	SNP	T	T	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr20:47682795T>C	ENST00000262982.2	+	4	418	c.295T>C	c.(295-297)Ttg>Ctg	p.L99L	CSE1L_ENST00000542325.1_Intron|CSE1L_ENST00000396192.3_Silent_p.L99L	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	99	Importin N-terminal.				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	p.L99L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CATAGTGCACTTGATGCTTAG	0.418000													7	93					0	0	0.010729	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499870	104499870	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr9:104499870G>T	ENST00000361820.3	-	1	992	c.392C>A	c.(391-393)gCc>gAc	p.A131D		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	131					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.A131D(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTTGTCCACGGCAAATAGGAG	0.672000													4	45					8.12818e-05	8.58773e-05	0.001984	1	0
UPRT	139596	broad.mit.edu	37	X	74494131	74494131	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chrX:74494131C>A	ENST00000373379.1	+	1	207	c.42C>A	c.(40-42)caC>caA	p.H14Q	UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373383.4_Missense_Mutation_p.H14Q			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	14					nucleoside metabolic process	cytoplasm|nucleus		p.H14Q(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						TGCCCTGTCACAACCAGCAAG	0.597000													104	29					2.90702e-44	4.17884e-44	0.014410	1	0
UNC79	57578	broad.mit.edu	37	14	94121688	94121688	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr14:94121688T>A	ENST00000553484.1	+	40	6728	c.6574T>A	c.(6574-6576)Tgg>Agg	p.W2192R	UNC79_ENST00000555664.1_Missense_Mutation_p.W2131R|UNC79_ENST00000256339.4_Missense_Mutation_p.W1993R|UNC79_ENST00000393151.2_Missense_Mutation_p.W2170R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2170						integral to membrane		p.W1993R(1)|p.W2192R(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAGTAGCCTCTGGACCACAAT	0.413000													44	172					0	0	0.014410	0	0
GJB1	2705	broad.mit.edu	37	X	70443955	70443955	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chrX:70443955G>A	ENST00000374022.3	+	2	493	c.398G>A	c.(397-399)tGg>tAg	p.W133*	GJB1_ENST00000374029.1_Nonsense_Mutation_p.W133*|GJB1_ENST00000361726.6_Nonsense_Mutation_p.W133*	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	133			W -> C (in CMTX1; moderate).|W -> R (in CMTX1).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity	p.W133*(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					ACACTGTGGTGGACCTATGTC	0.547000													9	97					0	0	0.004482	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864110	31864110	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr21:31864110C>A	ENST00000334063.4	-	1	165	c.166G>T	c.(166-168)Ggc>Tgc	p.G56C		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	56						intermediate filament		p.G56C(1)		large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AAGCCAGAGCCATATCCATAG	0.527000													53	139					3.41413e-29	4.81521e-29	0.014410	1	0
ROCK2	9475	broad.mit.edu	37	2	11484135	11484135	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:11484135A>T	ENST00000315872.6	-	1	576	c.128T>A	c.(127-129)gTg>gAg	p.V43E	ROCK2_ENST00000462366.1_Intron	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	43					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.V43E(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAAGCTCTCCACGTTGATGGG	0.726000													13	23					0	0	0.004007	0	0
DIO3	1735	broad.mit.edu	37	14	102028628	102028628	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr14:102028628G>T	ENST00000510508.4	+	1	941	c.795G>T	c.(793-795)caG>caT	p.Q265H	DIO3_ENST00000359323.3_Missense_Mutation_p.Q239H			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	239					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	p.Q239H(1)|p.Q265H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ATGTCATCCAGAGTGGCACTA	0.617000													9	70					2.74318e-10	3.28084e-10	0.006214	1	0
IGBP1	3476	broad.mit.edu	37	X	69366622	69366622	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chrX:69366622A>T	ENST00000342206.6	+	3	1121	c.622A>T	c.(622-624)Att>Ttt	p.I208F	IGBP1_ENST00000356413.4_Missense_Mutation_p.I208F			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	208					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	p.I208F(1)		kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CTTAGAAGAGATTGAGAGCAT	0.418000													16	156					0	0	0.006122	0	0
ACSS3	79611	broad.mit.edu	37	12	81593168	81593168	+	Silent	SNP	G	G	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr12:81593168G>C	ENST00000548058.1	+	9	2209	c.1299G>C	c.(1297-1299)ctG>ctC	p.L433L	ACSS3_ENST00000261206.3_Silent_p.L432L|ACSS3_ENST00000548324.1_Silent_p.L115L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	433						mitochondrion	acetate-CoA ligase activity|ATP binding	p.L433L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TAGAGACCCTGGAATGGTCCA	0.358000													9	42					0	0	0.006214	0	0
SNTG2	54221	broad.mit.edu	37	2	1093936	1093936	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:1093936A>G	ENST00000308624.5	+	3	394	c.265A>G	c.(265-267)Aag>Gag	p.K89E	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	89	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.K89E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCTGAGTATAAAGGTATGGAA	0.388000													76	242					0	0	0.014410	0	0
HSPA1L	3305	broad.mit.edu	37	6	31777944	31777944	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr6:31777944C>G	ENST00000375654.4	-	2	1995	c.1806G>C	c.(1804-1806)gaG>gaC	p.E602D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E602D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	602			E -> K (in dbSNP:rs2075800).		response to unfolded protein		ATP binding	p.E602D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TACACATCTGCTCCAATTCCT	0.478000													13	109					0	0	0.003163	0	0
CHID1	66005	broad.mit.edu	37	11	903105	903105	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr11:903105A>T	ENST00000449825.1	-	3	474	c.118T>A	c.(118-120)Ttt>Att	p.F40I	CHID1_ENST00000323541.7_Missense_Mutation_p.F70I|CHID1_ENST00000323578.8_Missense_Mutation_p.F40I|CHID1_ENST00000454838.2_Missense_Mutation_p.F65I|CHID1_ENST00000436108.2_Missense_Mutation_p.F40I|CHID1_ENST00000429789.2_Missense_Mutation_p.F40I|CHID1_ENST00000528581.1_Missense_Mutation_p.F65I|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000336845.5_Missense_Mutation_p.F65I	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	40					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	p.F40I(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TTATCTGAAAACTGACTCTGA	0.537000													13	29					0	0	0.004007	0	0
ZP4	57829	broad.mit.edu	37	1	238048822	238048822	+	Silent	SNP	C	C	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:238048822C>G	ENST00000366570.4	-	8	1187	c.1029G>C	c.(1027-1029)cgG>cgC	p.R343R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	343	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R343R(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAATGGGATCCCGAAGCAACT	0.498000													34	64					0	0	0.004289	0	0
TRMT10C	54931	broad.mit.edu	37	3	101283774	101283774	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:101283774C>T	ENST00000309922.6	+	2	303	c.149C>T	c.(148-150)cCt>cTt	p.P50L		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)									p.P50L(1)									GTTACTTATCCTAAAAATGAG	0.373000													66	207					0	0	0.014410	0	0
MMS22L	253714	broad.mit.edu	37	6	97679434	97679434	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr6:97679434C>A	ENST00000275053.4	-	13	1662	c.1397G>T	c.(1396-1398)tGt>tTt	p.C466F	MMS22L_ENST00000369251.2_Missense_Mutation_p.C426F	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	466					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	p.C466F(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTATCGCAACAGCAAGTCTT	0.343000													8	66					5.16669e-11	6.27983e-11	0.010729	1	0
CLCA3P	9629	broad.mit.edu	37	1	87101784	87101784	+	RNA	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:87101784G>A	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA														p.R149Q(1)									TATGGGCCTCGAGGTAGAGAT	0.328000													51	96					0	0	0.014410	0	0
MUC3A	4584	broad.mit.edu	37	7	100607778	100607778	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:100607778T>A	ENST00000319509.7	+	5	1925	c.1925T>A	c.(1924-1926)cTg>cAg	p.L642Q	RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated									p.L642Q(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TACCTGGTCCTGCTGGAGATG	0.617000													11	188					0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9071203	9071203	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:9071203C>T	ENST00000397910.4	-	3	16446	c.16243G>A	c.(16243-16245)Gcc>Acc	p.A5415T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5417	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A5415T(4)|p.A1048T(2)		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						TGATGCATGGCGGCTTCTGTG	0.498000													181	389					0	0	0.014410	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914548	147914548	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:147914548C>A	ENST00000361727.3	+	19	3695	c.3179C>A	c.(3178-3180)gCg>gAg	p.A1060E	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.A119E	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1060	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.A1060E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACCACCAAGGCGCCCTGCATT	0.572000										HNSCC(39;0.1)			46	133					2.51966e-14	3.24732e-14	0.014410	1	0
CLDN18	51208	broad.mit.edu	37	3	137717893	137717893	+	Silent	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:137717893C>A	ENST00000343735.4	+	1	317	c.183C>A	c.(181-183)acC>acA	p.T61T		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	61					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CTGGCTTCACCGAGTGCCGGG	0.602000													14	98					3.41278e-10	4.06543e-10	0.004990	1	0
CYP4F24P	388514	broad.mit.edu	37	19	15882884	15882884	+	RNA	SNP	C	C	T	rs3752144	by1000genomes	TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:15882884C>T	ENST00000587443.2	-	0	793					NR_033864.1																						TGCATTTCTGCAGACTGTCCA	0.537000													4	101					0	0	0.004482	0	0
THSD1	55901	broad.mit.edu	37	13	52952787	52952787	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr13:52952787C>T	ENST00000349258.4	-	4	1703	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	THSD1_ENST00000544466.1_Missense_Mutation_p.G61S|THSD1_ENST00000258613.4_Missense_Mutation_p.G440S	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	440	TSP type-1.					extracellular region|integral to membrane|intracellular membrane-bounded organelle		p.G440S(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GCTGGCCGGCCGAACCTCCTC	0.557000													8	40					0	0	0.006214	0	0
CENPL	91687	broad.mit.edu	37	1	173772116	173772116	+	Silent	SNP	A	A	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:173772116A>C	ENST00000356198.2	-	6	1371	c.1086T>G	c.(1084-1086)acT>acG	p.T362T	CENPL_ENST00000367710.3_Silent_p.T316T|CENPL_ENST00000345664.6_Silent_p.T316T	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	316					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus		p.T316T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						TTTTTCCATCAGTATGTGCTG	0.303000													3	77					0	0	0.004672	0	0
PCSK5	5125	broad.mit.edu	37	9	78686660	78686660	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr9:78686660G>A	ENST00000545128.1	+	7	1278	c.740G>A	c.(739-741)gGa>gAa	p.G247E	PCSK5_ENST00000376752.4_Missense_Mutation_p.G247E|PCSK5_ENST00000376767.3_Missense_Mutation_p.G247E	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	247	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.G247E(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ATGCTGGACGGAGATGTCACG	0.522000													39	213					0	0	0.006999	0	0
PCLO	27445	broad.mit.edu	37	7	82784916	82784916	+	Silent	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:82784916C>A	ENST00000423517.2	-	2	1378	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G	PCLO_ENST00000333891.8_Silent_p.G347G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	320	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G347G(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTTCACTGTCCCTGGTTGTT	0.587000													6	43					8.12818e-05	8.58773e-05	0.001984	1	0
PCSK5	5125	broad.mit.edu	37	9	78749075	78749075	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr9:78749075G>T	ENST00000545128.1	+	10	1797	c.1259G>T	c.(1258-1260)cGt>cTt	p.R420L	PCSK5_ENST00000376752.4_Missense_Mutation_p.R420L|PCSK5_ENST00000376767.3_Missense_Mutation_p.R420L	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	420	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.R420L(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGGACTTCCCGTGCGGGACAT	0.403000													19	75					2.89027e-11	3.54176e-11	0.014323	1	0
FCGR3A	2214	broad.mit.edu	37	1	161518298	161518298	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:161518298C>A	ENST00000367969.3	-	3	523	c.340G>T	c.(340-342)Gct>Tct	p.A114S	FCGR3A_ENST00000436743.1_Missense_Mutation_p.A78S|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000540048.1_Missense_Mutation_p.A78S|FCGR3A_ENST00000443193.1_Missense_Mutation_p.A113S	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	78	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	p.A114S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTGTGGCAGCGTCAATGAAG	0.542000													7	351					9.31168e-06	1.00512e-05	0.001855	1	0
SLC16A9	220963	broad.mit.edu	37	10	61413507	61413507	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:61413507T>C	ENST00000395348.3	-	5	1913	c.1277A>G	c.(1276-1278)gAa>gGa	p.E426G	SLC16A9_ENST00000395347.1_Missense_Mutation_p.E426G	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	426					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.E426G(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GGCTAATTTTTCAATTCCCAC	0.408000													4	161					0	0	0.001168	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998579	27998579	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chrX:27998579C>A	ENST00000441525.1	-	1	987	c.873G>T	c.(871-873)gaG>gaT	p.E291D		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	291								p.E291D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCAGAGCCAACTCGTGGGCAG	0.512000													13	70					4.93089e-13	6.24719e-13	0.002450	1	0
APC	324	broad.mit.edu	37	5	112178162	112178162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr5:112178162C>T	ENST00000457016.1	+	16	7251	c.6871C>T	c.(6871-6873)Caa>Taa	p.Q2291*	APC_ENST00000508376.2_Nonsense_Mutation_p.Q2291*|APC_ENST00000257430.4_Nonsense_Mutation_p.Q2291*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2291	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Q2291*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCAGACATCCCAAATAGGTGG	0.488000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			7	60					0	0	0.003080	0	0
CDC123	8872	broad.mit.edu	37	10	12272994	12272994	+	Splice_Site	SNP	A	A	G			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:12272994A>G	ENST00000281141.4	+	7	768	c.489_splice	c.e7+1	p.E163_splice	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Splice_Site_p.E163_splice	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	163					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		p.E163G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						ATAGAATATGAGGTAAGAAGC	0.308000													14	46					0	0	0.004990	0	0
ACAD9	28976	broad.mit.edu	37	3	128623262	128623262	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr3:128623262G>A	ENST00000308982.7	+	11	1144	c.1063G>A	c.(1063-1065)Gtc>Atc	p.V355I	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	355						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	p.V355I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GAAGGCTTACGTCATGGAGAG	0.493000													24	122					0	0	0.004656	0	0
ZNF511	118472	broad.mit.edu	37	10	135163597	135163597	+	Splice_Site	SNP	A	A	C			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:135163597A>C	ENST00000368554.4	+	5	507		c.e5-1		PRAP1_ENST00000458230.1_Splice_Site|RP11-122K13.7_ENST00000452591.1_RNA|PRAP1_ENST00000433452.2_Splice_Site|PRAP1_ENST00000423766.1_Splice_Site			Q8NB15	ZN511_HUMAN	zinc finger protein 511						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		GCCCCCCCTCAGGCTCCTCCT	0.662000													3	24					0	0	0.003080	0	0
C1orf116	79098	broad.mit.edu	37	1	207196009	207196010	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:207196009_207196010insAC	ENST00000359470.5	-	4	1348_1349	c.1099_1100insGT	c.(1099-1101)aagfs	p.K367fs	C1orf116_ENST00000461135.2_Frame_Shift_Ins_p.K121fs	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	367						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GGGCTTACTTAAGTGGAGTCCA	0.579													20	183	---	---	---	---					
PSEN2	5664	broad.mit.edu	37	1	227071533	227071534	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr1:227071533_227071534insCA	ENST00000366782.1	+	5	868_869	c.368_369insCA	c.(367-369)actfs	p.T123fs	PSEN2_ENST00000340188.4_Frame_Shift_Ins_p.T90fs|PSEN2_ENST00000422240.2_Frame_Shift_Ins_p.T90fs|PSEN2_ENST00000391872.2_Frame_Shift_Ins_p.T123fs|PSEN2_ENST00000366783.3_Frame_Shift_Ins_p.T90fs			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	90				P -> T (in Ref. 1 and 9).	amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CACGTGATCATGCTGTTTGTGC	0.584													62	162	---	---	---	---					
TNS1	7145	broad.mit.edu	37	2	218682516	218682516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr2:218682516delC	ENST00000171887.4	-	24	4679	c.4227delG	c.(4225-4227)ggfs	p.G1409fs	TNS1_ENST00000430930.1_Frame_Shift_Del_p.G1388fs|TNS1_ENST00000419504.1_Frame_Shift_Del_p.G1396fs	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1409						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)		AAGACACCTTCCCATTGATGG	0.622													30	128	---	---	---	---					
AZGP1P1	646282	broad.mit.edu	37	7	99581179	99581179	+	RNA	DEL	C	C	-			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr7:99581179delC	ENST00000425474.1	+	0	500					NR_036679.1																						CCGCATCCCACCCCCCCCACA	0.577													3	5	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89498121	89498122	+	RNA	INS	-	-	A			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr8:89498121_89498122insA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							gaacagctatgaaaaaaaaaac	0.386													3	6	---	---	---	---					
DDX31	64794	broad.mit.edu	37	9	135522364	135522364	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr9:135522364delG	ENST00000372159.3	-	12	1515	c.1364delC	c.(1363-1365)cafs	p.P455fs	DDX31_ENST00000372153.1_Frame_Shift_Del_p.P455fs|DDX31_ENST00000310532.2_Frame_Shift_Del_p.P455fs|DDX31_ENST00000438527.3_Frame_Shift_Del_p.P326fs	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	455						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TTTGTCCTTTGGGTTCAACTG	0.498													41	110	---	---	---	---					
AKR1C1	1645	broad.mit.edu	37	10	5014908	5014909	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr10:5014908_5014909insT	ENST00000380872.4	+	7	1005_1006	c.813_814insT	c.(811-816)agacaafs	p.RQ271fs	AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Frame_Shift_Ins_p.RQ271fs	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						TGGCCAAGAGCTACAATGAGCA	0.584													12	94	---	---	---	---					
SNORD3A	780851	broad.mit.edu	37	17	19091391	19091392	+	RNA	DEL	AG	AG	-			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:19091391_19091392delAG	ENST00000365494.1	+	0	63_64																											ctgaacgtgtagagcaccgaaa	0.490													20	295	---	---	---	---					
OTOP2	92736	broad.mit.edu	37	17	72920942	72920944	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr17:72920942_72920944delTGG	ENST00000331427.4	+	2	307_309	c.215_217delTGG	c.(214-219)cca>c	p.LA72del	OTOP2_ENST00000580223.1_In_Frame_Del_p.LA72del	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	72						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATGATGCTGCTGGCAACGCTCTG	0.665													7	23	---	---	---	---					
ZNF98	148198	broad.mit.edu	37	19	22575752	22575752	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chr19:22575752delC	ENST00000357774.5	-	4	406	c.285delG	c.(283-285)tgfs	p.W95fs		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CCTGCTTTGGCCAAAGGTCTT	0.284													6	12	---	---	---	---					
RP11-1007I13.4	0	broad.mit.edu	37	X	151295845	151295845	+	RNA	DEL	C	C	-			TCGA-49-4507-01A-01D-1265-08	TCGA-49-4507-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	562a09a1-b491-45c8-a87d-3c2471353c0d	0629ddb0-d7ba-441d-b3ed-c2822cde4332	g.chrX:151295845delC	ENST00000509345.2	-	0	172																											AAGCCCCTCACCCCTCAGAGC	0.527													5	10	---	---	---	---